ELENCO PUBBLICAZIONI 2012 (i nomi indicati per esteso si

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ELENCO PUBBLICAZIONI 2012 (i nomi indicati per esteso si
ELENCO PUBBLICAZIONI 2012 (i nomi indicati per esteso si riferiscono agli autori dell’OPBG) Adorisio Ottavio Domenico, Silveri Massimiliano, Rivosecchi Massimo, Tozzi Alberto Eugenio, Scottoni
Federico, Buonuomo Paola Sabrina. Analysis of readability and quality of web pages addressing both
common and uncommon topics in pediatric surgery. European Journal of Pediatric Surgery 2012 (22):228233.
Aiuti Alessandro, Bacchetta R, Seger R, Villa A, Cavazzana-Calvo M. Gene therapy for primary
immunodeficiencies: Part 2. Current Opinion in Immunology 2012 (24):585-591.
Alisi Anna, Arciello M, Petrini Stefania, Conti B, Missale G, Balsano C. Focal adhesion kinase (FAK)
mediates the induction of pro-oncogenic and fibrogenic phenotypes in hepatitis C virus (HCV)-infected cells.
Plos One 2012 (7):e44147.
Alisi Anna, Baffet G. Self-renewal of tumor-initiating cells: what's new about hepatocellular carcinoma?
Gastroenterology 2012 (142):1414-1416.
Alisi Anna, Ceccarelli Sara, Panera Nadia, Nobili Valerio. Causative role of gut microbiota in non-alcoholic
fatty liver disease pathogenesis. Frontiers in Cellular and Infection Microbiology 2012 (2):132.
Alisi Anna, Feldstein AE, Villani Alberto, Raponi Massimiliano, Nobili Valerio. Pediatric nonalcoholic fatty
liver disease: a multidisciplinary approach. Nature Reviews Gastroenterology & Hepatology 2012 (9):152161.
Alisi Anna, Nobili Valerio. Non-alcoholic fatty liver disease in children now: Lifestyle changes and
pharmacologic treatments. Nutrition 2012 (28):722-726.
Alisi Anna, Nobili Valerio. Sensitive non-invasive circulating markers in paediatric non-alcoholic fatty liver
disease. International Journal of Pediatric Obesity 2012 (7):89-91.
Alisi Anna, Pastore Anna, Ceccarelli Sara, Panera Nadia, Gnani Daniela, Bruscalupi G, Massimi M, Tozzi
Giulia, Piemonte Fiorella, Nobili Valerio. Emodin prevents intrahepatic fat accumulation, inflammation and
redox status imbalance during diet-induced hepatosteatosis in rats. International Journal of Molecular
Sciences 2012 (13):2276-2289.
Alkhouri N, De Vito Rita, Alisi Anna, Yerian L, Lopez R, Feldstein AE, Nobili Valerio. Development and
validation of a new histological score for pediatric non-alcoholic fatty liver disease. Journal of Hepatology
2012 (Epub, DOI 10.1016/j.jhep.2012.07.027).
Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola Bruno, Donti E, Fitzpatrick D, Isidor B,
Lachlan K, Le Caignec C, Prontera P, Raas Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF,
Jarinova O, McGowan Jordan J, Boycott K, Bulman D, Fagerberg CR. Nablus mask-like facial syndrome:
deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. American Journal of
Medical Genetics Part A 2012 (158A):2091-2099.
Alon S, Mor E, Vigneault F, Church GM, Locatelli Franco, Galeano Federica, Gallo Angela, Shomron N,
Eisenberg E. Systematic identification of edited microRNAs in the human brain. Genome Research 2012
(22):1533-1540.
Al-Serri A, Anstee QM, Valenti L, Nobili Valerio, Leathart JB, Dongiovanni P, Patch J, Fracanzani A,
Fargion S, Day CP, Daly AK. The SOD2 C47T polymorphism influences NAFLD fibrosis severity:
Evidence from case-control and intra-familial allele association studies. Journal of Hepatology 2012
(56):448-454.
Ammirati Antonio, Silvetti Massimo Stefano, Di Carlo Duccio, Saputo Fabio Anselmo, Longoni Antonio,
Drago Fabrizio. De novo biventricular pacing in two children with complete atrio-ventricular block and
severe ventricular dilatation: early reverse remodeling. International Journal of Cardiology 2012 (160):e523.
Amodeo Antonio, Adorisio Rachele. Left ventricular assist device in Duchenne Cardiomyopathy: can we
change the natural history of cardiac disease? International Journal of Cardiology 2012 (161):e43-E43.
Amodeo Antonio, Oliverio M, Versacci P, Marino B. Spiral shapes in heart and shells: when form and
function do matter. European Journal of Cardio-Thoracic Surgery 2012 (41):473-475.
Masotti Andrea. The role of liver fructose-1,6-bisphosphatase in regulating appetite and adiposity. Diabetes
2012 (61):E20.
Angelino G, Cantarutti N, Chiurchiu S, Amodio D, De Luca Maia, Lancella Laura, Coltella Luana, Russo
Cristina, Finocchi Andrea. Fulminant Fusobacterium necrophorum meningitis in an immunocompetent
adolescent. Pediatric Emergency Care 2012 (28):703-704.
Armando Marco, Girardi P, Vicari Stefano, Menghini Deny, Digilio Maria Cristina, Pontillo Maria, Saba R,
Mazzone Luigi, Lin A, Klier CM, Schafer MR, Amminger G.P. Adolescents at ultra-high risk for psychosis
with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general
functioning. Schizophrenia Research 2012 (139):151-156.
Armando Marco, Nelson B, Yung AR, Saba R, Monducci E, Dario C, Righetti V, Birchwood M, Fiori
Nastro P, Girardi P. Psychotic experience subtypes, poor mental health status and help-seeking behaviour in
a community sample of young adults. Early intervention in Psychiatry 2012 (6):300-308.
Armando Marco, Papaleo F, Vicari Stefano. COMT implication in cognitive and psychiatric symptoms in
chromosome 22q11 microdeletion syndrome: a selective review. Cns & Neurological Disorders Drug
Targets 2012 (11):273-281.
Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella Laura, Epistolato M.C, Mancini
R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M. Advances in Alport syndrome diagnosis using nextgeneration sequencing. European Journal of Human Genetics 2012 (20):50-57.
Aulisa Angelo Gabriele, Falciglia Francesco, Giordano Marco, Savignoni Pietro, Guzzanti Vincenzo.
Galeazzi's modified technique for recurrent patella dislocation in skeletally immature patients. Journal of
Orthopaedic Science 2012 (17):148-155.
Aulisa Angelo Gabriele, Guzzanti Vincenzo, Mastantuoni Giuseppe, Giordano Marco, Poggiaroni A, Aulisa
L. The familiarity of idiopathic scoliosis: statistical analysis and clinical considerations. European Journal of
Orthopaedic Surgery and Traumatology 2012 (7 Suppl 1):O73.
Aulisa Angelo Gabriele, Guzzanti Vincenzo, Perisano C, Marzetti E, Falciglia Francesco, Aulisa L.
Treatment of lumbar curves in scoliotic adolescent females with progressive action short brace: a case series
based on the scoliosis research society committee criteria. Spine 2012 (37):E786-E791.
Aulisa Angelo Gabriele, Mastantuoni Giuseppe, Laineri M, Falciglia Francesco, Giordano Marco, Marzetti
E, Guzzanti Vincenzo. Brace technology thematic series: the progressive action short brace (PASB).
Scoliosis 2012 (7):6.
Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli Franco, Notarangelo LD, Bertrand Y,
Bachelerie F, Donadieu J. Tetralogy of Fallot is an uncommon manifestation of warts,
hypogammaglobulinemia, infections, and myelokathexis syndrome. The Journal of Pediatrics 2012
(161):763-765.
Baldassarre Antonella, Masotti Andrea. Long non-coding RNAs and p53 regulation. International Journal of
Molecular Sciences 2012 (13):16708-16717.
Barca L, Frascarelli Flaminia, Pezzulo G. Working memory and mental imagery in cerebral palsy: a single
case investigation. Neurocase 2012 (18):298-304.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J,
Abhyankar A, Cilio Maria Roberta, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I,
Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. De novo gain-of-function KCNT1 channel
mutations cause malignant migrating partial seizures of infancy. Nature Genetics 2012 (44):1255-1259.
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola G.C, Gatti R, Dionisi Vici Carlo, Martinelli Diego,
Goffredo Bianca Maria, Font-Llitjós M, Mariani F, Luisetti M, Dall'asta V. Impaired phagocytosis in
macrophages from patients affected by lysinuric protein intolerance. Molecular Genetics and Metabolism
2012 (105):585-589.
Barone R, Aiello Chiara, Race V, Morava E, Foulquier F, Riemersma M, Passarelli Chiara, Concolino D,
Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A,
Wevers R.A, Bertini Enrico Silvio, Matthijs G, Lefeber DJ. DPM2-CDG: A muscular dystrophydystroglycanopathy syndrome with severe epilepsy. Annals of Neurology 2012 (72):550-558.
Barroeta Seijas AB, Graziani S, Cancrini Caterina, Finocchi Andrea, Ferrari S, Miniero R, Conti F, Zuntini
R, Chini L, Chiarello P, Bengala M, Rossi Paolo, Moschese V, Di Matteo G. The impact of TACI mutations:
from hypogammaglobulinemia in infancy to autoimmunity in adulthood. International Journal of
Immunopathology and Pharmacology 2012 (25):407-414.
Barzaghi F, Passerini L, Gambineri E, Ciullini Mannurita S, Cornu T, Kang ES, Choe YH, Cancrini
Caterina, Corrente Stefania, Ciccocioppo R, Cecconi M, Zuin G, Discepolo V, Sartirana C, Schmidtko J,
Ikinciogullari A, Ambrosi A, Roncarolo MG, Olek S, Bacchetta R. Demethylation analysis of the FOXP3
locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. Journal of Autoimmunity 2012
(38):49-58.
Basel-Vanagaite L, Dallapiccola Bruno, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro
X, White JK, Desir J, Abramowicz M, Dentici Maria Lisa, Lepri Francesca Romana, Hofmann K, Har-Zahav
A, Ryder E, Karp N.A, Estabel J, Gerdin A.K, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P,
Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T,
Kubisch C, Adams D.J, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosisintellectual-disability syndrome. American Journal of Human Genetics 2012 (91):998-1010.
Bassani Francesca, Silveri Massimiliano, Grossi Armando, Orazi Cinzia, Adorisio Ottavio Domenico.
Updating on the management of germ-cell tumors in disorders of sex development: intratubular germ-cell
neoplasia, unclassified type in a 46,XY DSD patient with persistent Müllerian duct syndrome. European
Journal of Pediatric Surgery 2012 (22):257-259.
Basso Maria Sole, Luciano Rosa, Ferretti Francesca, Muraca Maurizio, Panetta Fabio, Bracci Fiammetta,
Ottino Simonetta, Diamanti Antonella. Association between celiac disease and primary lactase deficiency.
European Journal of Clinical Nutrition 2012 (66):1364-1365.
Basso Maria Sole, Zanna Valeria, Panetta Fabio, Caramadre Anna Maria, Ferretti Francesca, Ottino
Simonetta, Diamanti Antonella. Is the screening for celiac disease useful in anorexia nervosa? European
Journal of Pediatrics 2012 (Epub, DOI 10.1007/s00431-012-1864-8).
Battaglia D, Lin YW, Brogna C, Crinò Antonino, Grasso Valeria, Mozzi AF, Russo Lucia, Spera Sabrina,
Colombo Carlo, Ricci S, Nichols C.G, Mercuri E, Barbetti Fabrizio. Glyburide ameliorates motor
coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226232 mutation. Pediatric Diabetes 2012 (13):656-660.
Bedogni G, Gastaldelli A, Manco Melania, De Col A, Agosti F, Tiribelli C, Sartorio A. Relationship between
fatty liver and glucose metabolism: a cross-sectional study in 571 obese children. Nutrition Metabolism and
Cardiovascular Diseases 2012 (22):120-126.
Bedogni G, Giannone Germana, Maghnie M, Giacomozzi C, Di Iorgi N, Pedicelli S, Peschiaroli E, Melioli
G, Muraca Maurizio, Cappa Marco, Cianfarani Stefano. Serum insulin-like growth factor-I (IGF-I) reference
ranges for chemiluminescence assay in childhood and adolescence. Data from a population of in- and outpatients. Growth Hormone & IGF Research 2012 (22):134-138.
Bellacchio Emanuele, Paggi MG. Understanding the targeting of the RB family proteins by viral
oncoproteins to defeat their oncogenic machinery. Journal of Cellular Physiology 2012 (Epub, DOI
10.1002/jcp.24137).
Bellacchio Emanuele. In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints
on the homodimerization of the protein. Journal of Cellular Physiology 2012 (227):3566-3574.
Bello L, Melacini P, Pezzani R, D'Amico Adele, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A,
Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini Enrico Silvio, Angelini C, Tosatto S.C, Pegoraro
E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
European Journal of Human Genetics 2012 (Epub, DOI 10.1038/ejhg.2012.71).
Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta
MC, Grieco GS, Napolitano S, Magri F, D'Amico Adele, Astrea G, Messina S, Sframeli M, Vita GL, Boffi
P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini Enrico Silvio, Comi
GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E.
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology
2012 (79):159-162.
Benedetti S, Bernasconi P, Bertini Enrico Silvio, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G,
Columbaro M, D'Adamo M, D'Amico Adele, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R,
Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M,
Pasquali R, Pini A, Petrini Stefania, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C,
Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. The empowerment of
translational research: lessons from laminopathies. Orphanet Journal of Rare Diseases 2012 (7):37.
Benevento Danila, Bizzarri Carla, Patera Ippolita Patrizia, Ravà Lucilla, Schiaffini Riccardo, Ciampalini
Paolo, Cianfarani Stefano, Cappa Marco. Birth weight influences the clinical phenotype and the metabolic
control of patients with type 1 diabetes (T1D). Diabetes/Metabolism Research and Reviews 2012 (Epub,
DOI 10.1002/dmrr.2361).
Bereman MS, Tomazela DM, Heins HS, Simonato M, Cogo Paola, Hamvas A, Patterson BW, Cole FS,
Maccoss MJ. A method to determine the kinetics of multiple proteins in human infants with respiratory
distress syndrome. Analytical and Bioanalytical Chemistry 2012 (403):2397-2402.
Bernardo Maria Ester, Fibbe WE. Safety and efficacy of mesenchymal stromal cell therapy in autoimmune
disorders. Annals of the New York Academy of Sciences 2012 (1266):107-117.
Bernardo Maria Ester, Piras E, Vacca A, Giorgiani G, Zecca M, Bertaina Alice, Pagliara Daria, Contoli
Benedetta, Pinto Rita Maria, Caocci G, Mastronuzzi Angela, La Nasa G, Locatelli Franco. Allogeneic
hematopoietic stem cell transplantation in thalassemia major: results of a reduced-toxicity conditioning
regimen based on the use of treosulfan. Blood 2012 (120):473-476.
Besouw MT, van Pelt AM, Gaide Chevronnay HP, Courtoy PJ, Pastore Anna, Goossens E, Devuyst O,
Antignac C, Levtchenko EN. Studying nonobstructive azoospermia in cystinosis: histologic examination of
testes and epididymis and sperm analysis in a Ctns(-/-) mouse model. Fertility and Sterility 2012 (Epub, DOI
10.1016/j.fertnstert.2012.03.050).
Bianchi E, Scarinci F, Grande C, Plateroti R, Plateroti P, Plateroti A M, Fumagalli L, Capozzi Paolo, Feher J,
Artico M. Immunohistochemical profile of VEGF, TGF-β and PGE in human pterygium and normal
conjunctiva: experimental study and review of the literature. International Journal of Immunopathology and
Pharmacology 2012 (25):607-615.
Bianciotto M, Chiappini E, Raffaldi I, Gabiano C, Tovo P, Sollai S, De Martino M, Mannelli F, Vincenzo
Tipo V, Da Cas R, Traversa G, Mennitiippolito F, Mennitiippolito F, Da Cas R, Sagliocca L, Traversa G,
Ferrazin F, Santuccio C, Tartaglia L, Trotta F, Di Pietro P, Renna S, Rossi Rossella, Tovo P, Bianciotto M,
Calitri C, Gabiano C, Raffaldi I, Urbino A, Da Dalt L, Favero V, Giordano L, Baraldi M, Bertuola F,
Lorenzon E, Parata F, Perilongo G, Vendramin S, Frassineti M, Calvani A, Chiappini E, De Martino M,
Fancelli C, Mannelli F, Mazzantini R, Sollai S, Venturini E, Pirozzi Nicola, Raucci Umberto, Reale
Antonino, Rossi R, Mores N, Bersani G, De Nisco A, Chiaretti A, Riccardi R, Romagnoli C, Tipo V,
Dinardo M, Pisapia T, Capuano A, Parretta E, Rafaniello C, Fuca F, Di Rosa E. Drug use and upper
gastrointestinal complications in children: a case-control study. Archives of Disease in Childhood 2012
(Epub, DOI 10.1136/archdischild-2012-302100).
Biscetti F, Pecorini G, Straface G, Arena V, Stigliano E, Rutella Sergio, Locatelli Franco, Angelini F,
Ghirlanda G, Flex A. Cilostazol promotes angiogenesis after peripheral ischemia through a VEGF-dependent
mechanism. International Journal of Cardiology 2012 (Epub, DOI 10.1016/j.ijcard.2012.03.103).
Bisogno G, Compostella A, Ferrari A, Pastore G, Cecchetto G, Garaventa A, Indolfi P, De Sio Luigi, Carli
M. Rhabdomyosarcoma in adolescents. Cancer 2012 (118):821-827.
Bizzarri Carla, Crea Francesca, Marini Romana, Benevento Danila, Porzio O, Ravà Lucilla, Cappa Marco.
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with
precocious pubarche. Journal of Pediatric Endocrinology & Metabolism 2012 (25):1059-1064.
Bizzarri Carla, Pinto Rita Maria, Pitocco D, Astorri E, Cappa Marco, Hawa M, Giannone Germana, Palermo
A, Maddaloni E, Leslie DR, Pozzilli P, on behalf of the IMDIAB Group. Diabetes-related autoantibodies in
children with acute lymphoblastic leukemia. Diabetes Care 2012 (35):e23-1946.
Boenzi Sara, Pastore Anna, Martinelli Diego, Goffredo Bianca Maria, Boiani Arianna, Rizzo Cristiano,
Dionisi Vici Carlo. Creatine metabolism in urea cycle defects. Journal of Inherited Metabolic Disease 2012
(35):647-653.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey M.A, Klein F,
Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang
PB, Zanoteli E, Vissing J, Witting N, Echaniz Laguna A, Wallgren Pettersson C, Dowling J, Merlini L,
Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A,
Mowat D, Leheup B, Cristofano M, Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini Enrico
Silvio, Urtizberea JA, Drouin Garraud V, Béroud C, Prudhon B, Bedford HM, Mathews K, Erby L.A, Smith
SA, Roggenbruck J, Crowe CA, Spitale AB, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird
TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Mutation
spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant
centronuclear myopathy. Human Mutation 2012 (33):949-959.
Bonanno G, Mariotti A, Procoli A, Folgiero Valentina, Natale D, De Rosa L, Majolino I, Novarese L, Rocci
A, Gambella M, Ciciarello M, Scambia G, Palumbo A, Locatelli Franco, De Cristofaro R, Rutella Sergio.
Indoleamine 2,3-dioxygenase 1 (IDO1) activity correlates with immune system abnormalities in multiple
myeloma. Journal of Translational Medicine 2012 (10):247.
Bozza Patrizia, Morini Francesco, Conforti Andrea, Sgrò Stefania, Laviani Mancinelli Raoul, Ottino
Simonetta, Bagolan Pietro, Picardo Sergio. Stress and ano-colorectal surgery in newborn/infant: role of
anesthesia. Pediatric Surgery International 2012 (28):821-824.
Bozzola Elena, Krzysztofiak Andrzej, Bozzola M, Calcaterra V, Quondamcarlo Anna, Lancella Laura,
Villani Alberto. HHV6 meningoencephalitis sequelae in previously healthy children. Infection 2012
(40):563-566.
Bozzola Elena, Pagani S, Meazza C, Cortis Elisabetta, Lisini D, Laarej K, Bozzola M. Changes in growth
hormone receptor gene expression during therapy in children with juvenile idiopathic arthritis. Hormone
Research in Padiatrics 2012 (77):52-58.
Bozzola Elena, Tozzi Alberto Eugenio, Bozzola M, Krzysztofiak Andrzej, Valentini Diletta, Grandin
Annalisa, Villani Alberto. Neurological complications of varicella in childhood: a case series and a
systematic review of the literature. Vaccine 2012 (30):5785-5790.
Bracaglia Claudia, Buonuomo Paola Sabrina, Tozzi Alberto Eugenio, Pardeo Manuela, Nicolai Rebecca,
Campana Andrea, Insalaco Antonella, Cortis Elisabetta, De Benedetti Fabrizio. Safety and efficacy of
etanercept in a cohort of patients with juvenile idiopathic arthritis under 4 years of age. The Journal of
Rheumatology 2012 (39):1287-1290.
Brancaccio Gianluca, Filippelli Sergio, Michielon Guido, Iacobelli Roberta, Alfieri Sara, Gandolfo Fabrizio,
Pongiglione Giacomo, Albanese Sonia Bernadette, Perri Gianluigi, Parisi Francesco, Carotti Adriano,
Amodeo Antonio. Ventricular assist devices as a bridge to heart transplantation or as destination therapy in
pediatric patients. Transplantation Proceedings 2012 (44):2007-2012.
Bresolin S, Trentin L, Zecca M, Giordan M, Sainati L, Locatelli Franco, Basso G, te Kronnie G. Gene
expression signatures of pediatric myelodysplastic syndromes are associated with risk of evolution into acute
myeloid leukemia. Leukemia 2012 (26):1717-1719.
Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano M.S, Sabatelli P, Selvatici R,
D'Amico Adele, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E,
Bertini Enrico Silvio, Merlini L, Mongini T, Ferlini A. Genetic characterization in symptomatic female
DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and
phenotype. BMC Medical Genetics 2012 (13):73.
Brufani Claudia, Manco Melania, Nobili Valerio, Fintini Danilo, Barbetti Fabrizio, Cappa Marco. Thyroid
function tests in obese prepubertal children: correlations with insulin sensitivity and body fat distribution.
Hormone Research in Paediatrics 2012 (Epub, DOI 10.1159/000341363).
Budoni Manuela, Fierabracci Alessandra, Luciano Rosa, Petrini Stefania, Di Ciommo Vincenzo Maria,
Muraca Maurizio. The immunosuppressive effect of mesenchymal stromal cells on B lymphocytes is
mediated by membrane vesicles. Cell Transplantation 2012 (Epub, DOI 10.3727/096368911X582769).
Bunupuradah T, Duong T, Compagnucci A, McMaster P, Bernardi Stefania, Kanjanavanit S, Rampon O,
Faye A, Saidi Y, Riault Y,,de Rossi A, Klein N, Ananworanich J, Gibb D, on behalf of the PENTA 11
Extension Study Group. Outcomes after reinitiating antiretroviral therapy in children randomized to planned
treatment interruptions in the PENTA 11 Study. AIDS 2012 (Epub, DOI 10.1097/QAD.0b013e32835c1181).
Buonsenso D, Lancella Laura, Delogu G, Krzysztofiak Andrzej, Testa A, Ranno O, D'Alfonso P, Valentini
P. A twenty-year retrospective study of pediatric tuberculosis in two tertiary hospitals in Rome. The
Pediatric Infectious Disease Journal 2012 (31):1022-1026.
Buonsenso D, Lancella Laura, Gargiullo L, Ceccarelli M, Ranno O, Valentini P. Evaluation of a
mathematical model proposed to predict the diagnosis of tuberculosis in children with cervical lymph node
enlargement. International Journal of Pediatric Otorhinolaryngology 2012 (76):1068-1070.
Buonuomo Paola Sabrina, Macchiaiolo Marina, Toscano Alessandra, De Benedetti Fabrizio, Villani Alberto,
Bartuli Andrea. Acute rheumatic fever with Chorea. Archives of Disease in Childhood 2012 (Epub, DOI
10.1136/archdischild-2012-302732).
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni Ginevra, Petit F, Afenjar A, Goizet C,
Barresi Sabina, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini
Enrico Silvio, Siffroi JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls
and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male
mosaic patient. Orphanet Journal of Rare Diseases 2012 (7):18.
Buzzetti R, Alicandro G, Minicucci L, Notarnicola S, Furnari ML, Giordano G, Lucidi Vincenzina,
Montemitro Enza, Raia V, Magazzù G, Vieni G, Quattrucci S, Ferrazza A, Gagliardini R, Cirilli N, Salvatore
D, Colombo C. Validation of a predictive survival model in Italian patients with cystic fibrosis. Journal of
Cystic Fibrosis 2012 (11):24-29.
Buzzonetti Luca, Petrocelli Giuseppe, Valente Paola. Femtosecond laser and big-bubble deep anterior
lamellar keratoplasty: a new chance. Journal of Ophthalmology 2012 (2012):264590.
Buzzonetti Luca, Petrocelli Giuseppe, Valente Paola. Big-bubble deep anterior lamellar keratoplasty assisted
by femtosecond laser in children. Cornea 2012 (31):1083-1086.
Buzzonetti Luca. Transepithelial corneal cross-linking in pediatric patients: Early results. Journal of
Refractive Surgery 2012 (28):763-767.
Cagigi A, Cotugno N, Giaquinto C, Nicolosi L, Bernardi Stefania, Rossi Paolo, Douagi I, Palma Paolo.
Immune reconstitution and vaccination outcome in HIV-1 infected children: present knowledge and future
directions. Human Vaccines & Immunotherapeutics 2012 (8): .
Caione Paolo, Boldrini Renata, Salerno Annamaria, Gerocarni Nappo Simona. Bladder augmentation using
acellular collagen biomatrix: a pilot experience in exstrophic patients. Pediatric Surgery International 2012
(28):421-428.
Caione Paolo, Gerocarni Nappo Simona, Matarazzo Ennio, Aloi Ivan, Lais Alberto. Penile repair in patients
with epispadias-exstrophy complex-can we prevent resultant hypospadias? The Journal of Urology 2012
(Epub, DOI 10.1016/j.juro.2012.09.093).
Caldaro Tamara, Romeo Erminia Francesca, De Angelis Paola, Gambitta Rosa Alba, Rea Francesca, Torroni
Filippo, Foschia Francesca, Federici di Abriola Giovanni, Dall'Oglio Luigi. Three-dimensional endoanal
ultrasound and anorectal manometry in children with anorectal malformations: new discoveries. Journal of
Pediatric Surgery 2012 (47):956-963.
Callea Francesco, Giovannoni Isabella, Stefanelli Marta, Villanacci V, Lorini G, Francalanci Paola.
Glycogenotic hepatocellular carcinoma with glycogen-ground-glass hepatocytes: histological, histochemical
and microbiochemical characterization of the novel variant. Histopathology 2012 (60):1010-1012.
Callea M, Fattori Fabiana, Yavuz I, Bertini Enrico Silvio. A new phenotypic variant in cleidocranial
dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene. BMJ Case Reports 2012 (Epub,
DOI 10.1136/bcr-12-2011-5422).
Cambiaso Paola, Schiaffini Riccardo, Pontrelli Giuseppe, Carducci Chiara, Ubertini Graziamaria, Crea
Francesca, Cappa Marco. Nocturnal hypoglycemia in ACTH and GH deficient children: role of continuous
glucose monitoring. Clinical Endocrinology 2012 (Epub, DOI 10.1111/cen.12123, 10.1111/cen.12123).
Capasso F, Di Matteo G, Rossi Paolo, Angelini F. A variable degree of autoimmunity in the pedigree of a
patient with type 1 diabetes homozygous for the PTPN22 1858T variant. Pediatric Diabetes 2012 (Epub,
DOI 10.1111/j.1399-5448.2012.00891.x).
Capitanucci Maria Luisa, Marciano Armando, Zaccara Antonio, La Sala E, Mosiello Giovanni, De Gennaro
Mario. Long-term bladder function followup in boys with posterior urethral valves: comparison of
noninvasive vs invasive urodynamic studies. The Journal of Urology 2012 (188):953-957.
Capulli M, Angelucci A, Driouch K, Garcia T, Clement-Lacroix P, Martella F, Ventura L, Bologna M,
Flamini S, Moreschini O, Lidereau R, Ricevuto E, Muraca Maurizio, Teti A, Rucci N. Increased expression
of a set of genes enriched in oxygen binding function discloses a predisposition of breast cancer bone
metastases to generate metastasis spread in multiple organs. Journal of Bone and Mineral Research 2012
(27):2387-2398.
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici Maria Lisa, Biamino
E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola
Bruno, Tartaglia M. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies
Myhre syndrome. American Journal of Human Genetics 2012 (90):161-169.
Carollo M, Palazzo R, Bianco M, Pandolfi Elisabetta, Chionne P, Fedele G, Tozzi Alberto Eugenio, Carsetti
Rita, Romano L, Ausiello CM. Hepatitis B specific T cell immunity induced by primary vaccination persists
independently of the protective serum antibody level. Vaccine 2012 (Epub, DOI
10.1016/j.vaccine.2012.11.029).
Carotti Adriano. Postoperative neurodevelopmental outcome of patients with hypoplastic left heart complex:
hybrid versus Norwood strategy. European Journal of Cardio-Thoracic Surgery 2012 (42):40-41.
Caselli D, Cesaro S, Ziino O, Ragusa P, Pontillo A, Pegoraro A, Santoro N, Zanazzo G, Poggi V, Giacchino
M, Livadiotti Susanna, Melchionda F, Chiodi M, Arico M. A prospective, randomized study of empirical
antifungal therapy for the treatment of chemotherapy-induced febrile neutropenia in children. British Journal
of Haematology 2012 (158):249-255.
Caselli MC, Rinaldi P, Varuzza Cristiana, Giuliani A, Burdo S. Cochlear implant in the second year of life:
lexical and grammatical outcomes. Journal of Speech Language and Hearing Research 2012 (55):382-394.
Cassandrini D, Cilio Maria Roberta, Bianchi Marzia, Doimo M, Balestri Martina, Tessa A, Rizza Teresa,
Sartori G, Meschini Maria Chiara, Nesti C, Tozzi Giulia, Petruzzella V, Piemonte Fiorella, Bisceglia L,
Bruno C, Dionisi Vici Carlo, D'Amico Adele, Fattori Fabiana, Carrozzo Rosalba, Salviati L, Santorelli FM,
Bertini Enrico Silvio. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the
clinical spectrum and molecular findings in five patients. Journal of Inherited Metabolic Disease 2012
(Epub, DOI 10.1007/s10545-012-9487-9).
Castiglioni C, Lopez I, Riant F, Bertini Enrico Silvio, Terracciano Alessandra. PRRT2 mutation causes
paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. European Journal of
Paediatric Neurology 2012 (Epub, DOI 10.1016/j.ejpn.2012.10.010).
Cattelani S, Ferrari-Amorotti G, Galavotti S, Defferrari R, Tanno B, Cialfi S, Vergalli J, Fragliasso V,
Guerzoni C, Manzotti G, Soliera AR, Menin C, Bertorelle R, McDowell HP, Inserra Alessandro, Belli ML,
Varesio L, Tweddle D, Tonini GP, Altavista P, Dominici C, Raschellà G, Calabretta B. The p53 codon 72
Pro/Pro genotype identifies poor-prognosis neuroblastoma patients: correlation with reduced apoptosis and
enhanced senescence by the p53-72P isoform. Neoplasia 2012 (14):634-U108.
Cazzella V, Martone J, Pinnaro C, Santini T, Twayana SS, Sthandier O, D'Amico Adele, Ricotti V, Bertini
Enrico Silvio, Muntoni F, Bozzoni I. Exon 45 skipping through U1-snRNA antisense molecules recovers the
Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Molecular Therapy 2012
(20):2134-2142.
Cesaro S, Pagano L, Caira M, Carraro F, Luciani Matteo, Russo D, Colombini A, Morello W, Viale P, Rossi
G, Tridello G, Pegoraro A, Nosari A, Aversa F, on behalf of Hema-e-chart Group. A prospective, multicentre
survey on antifungal therapy in neutropenic paediatric haematology patients. Mycoses 2012 (Epub, DOI
10.1111/j.1439-0507.2012.02187.x).
Cetrano Enrico, Carotti Adriano. Surgical treatment of transposition of the great arteries with bilateral
intramural coronary arteries. The Annals of Thoracic Surgery 2012 (93):986-987.
Chiappini E, Galli L, Tovo PA, Gabiano C, Lisi C, Giacomet V, Bernardi Stefania, Esposito S, Rosso R,
Giaquinto C, Badolato R, Guarino A, Maccabruni A, Masi M, Cellini M, Salvini F, Di Bari C, Dedoni M,
DodiI, de Martino M, for the Italian Register for HIV infection in children. Antiretroviral use in Italian
children with perinatal HIV infection over a 14-year period. Acta Paediatrica 2012 (101):e287-e295.
Chiari P, Poli M, Magli C, Bascelli E, Rocchi R, Bolognini S, Tartari P, Armuzzi R, Rossi G, Peghetti A,
Biavati C, Fontana M, Gazineo D, Cordella S, Tiozzo Emanuela, Ciliento Gaetano, Carta Giovanna, Taddia
P. Multicentre, prospective cohort study, to validate the italian version of the Braden Q scale for the risk of
pressure sores in newborns and up to 8 years old children. Assistenza Infermieristica e Ricerca 2012 (31):8390.
Chiocca E, Dati E, BaroncelliG I, Cassio A, Wasniewska M, Galluzzi F, Einaudi S, Cappa Marco, Russo G,
Bertelloni S. Central precocious puberty: treatment with triptorelin 11.25 mg. The Scientific World Journal
2012 (2012):583751.
Cianfarani Stefano, Agostoni C, Bedogni G, Berni Canani R, Brambilla P, Nobili Valerio, Pietrobelli A.
Effect of intrauterine growth retardation on liver and long-term metabolic risk. International Journal of
Obesity 2012 (36):1270-1277.
Cianfarani Stefano. Insulin-like growth factor-II: new roles for an old actor. Frontiers in Endocrinology
2012 (3):118.
Cianfarani Stefano. Long-term safety of growth hormone therapy: still a controversial issue. Frontiers in
Endocrinology 2012 (3):115.
Ciccocioppo R, Russo ML, Bernardo Maria Ester, Biagi F, Catenacci L, Avanzini MA, Alvisi C, Vanoli A,
Manca R, Luinetti O, Locatelli Franco, Corazza GR. Mesenchymal stromal cell infusions as rescue therapy
for corticosteroid-refractory adult autoimmune enteropathy. Mayo Clinic Proceedings 2012 (87):909-914.
Ciccolella Marianna, Catteruccia Michela, Benedetti S, Moroni I, Uziel G, Pantaleoni C, Chiapparini L,
Bizzi A, D'Amico Adele, Fattori Fabiana, Salsano Maria Letizia, Pastore Anna, Tozzi Giulia, Piemonte
Fiorella, Bertini Enrico Silvio. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical,
biochemical and genetic study. Neuromuscular Disorders 2012 (22):1075-1082.
Ciccolella Marianna, Corti S, Catteruccia Michela, Petrini Stefania, Tozzi Giulia, Rizza Teresa, Carrozzo
Rosalba, Nizzardo M, Bordoni A, Ronchi D, D'Amico Adele, Rizzo Cristiano, Comi G.P, Bertini Enrico
Silvio. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel
mutations. Journal of Medical Genetics 2012 (Epub, DOI 10.1136/jmedgenet-2012-101204).
Cifaldi Loredana, Romania Paolo, Lorenzi Silvia, Locatelli Franco, Fruci Doriana. Role of endoplasmic
reticulum aminopeptidases in health and disease: from infection to cancer. International Journal of
Molecular Sciences 2012 (13):8338-8352.
Cioffi I, Piccolo A, Tagliaferri R, Paduano S, Galeotti Angela, Martina R. Pain perception following first
orthodontic archwire placement-thermoelastic vs superelastic alloys: a randomized controlled trial.
Quintessence International 2012 (43):61-69.
Cirillo G, Marini Romana, Ito S, Wakamatsu K, Scianguetta S, Bizzarri Carla, Romano A, Grandone A,
Perrone L, Cappa Marco, Miraglia Del Giudice E. Lack of red hair phenotype in a North-African obese child
homozygous for a novel POMC-null mutation: nonsense-mediated decay RNA evaluation and hair pigment
chemical analysis. The British Journal of Dermatology 2012 (167):1393-1395.
Citti Arianna, Boldrini Renata, Inserra Alessandro, Alisi Anna, Pessolano Rosanna, Mastronuzzi Angela, Zin
A, De Sio Luigi, Rosolen A, Locatelli Franco, Fruci Doriana. Expression of multidrug resistance-associated
proteins in paediatric soft tissue sarcomas before and after chemotherapy. International Journal of Oncology
2012 (41):117-124.
Clave E, Lisini D, Douay C, Giorgiani G, Busson M, Zecca M, Charron D, Bernardo Maria Ester, Toubert
A, Locatelli Franco. A low thymic function is associated with leukemia relapse in children given T-celldepleted HLA-haploidentical stem cell transplantation. Leukemia 2012 (26):1886-1888.
Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J,
Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca Stefano, Rumsby G,
Salido E, Straub M, van Woerden CS, OxalEurope Http Www Oxaleurope Com. Primary hyperoxaluria
Type 1: indications for screening and guidance for diagnosis and treatment. Nephrology Dialysis
Transplantation 2012 (27):1729-1736.
Cogo Paola, Simonato M, Danhaive Olivier, Verlato G, Cobellis G, Savignoni F, Peca Donatella, Baritussio
A, Carnielli VP. Impaired surfactant protein b synthesis in infants with congenital diaphragmatic hernia. The
European Respiratory Journal 2012 (Epub, DOI 10.1183/09031936.00032212).
Cohen MI, Triedman JK, Cannon BC, Davis AM, Drago Fabrizio, Janousek J, Klein GJ, Law IH, Morady
FJ, Paul T, Perry JC, Sanatani S, Tanel RE, Writing Comm Members. PACES/HRS expert consensus
statement on the management of the asymptomatic young patient with a Wolff-Parkinson-White (WPW,
ventricular preexcitation) electrocardiographic pattern: developed in partnership between the Pediatric and
Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Heart Rhythm 2012
(9):1006-U192.
Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I, Cetincelik U, Teti A,
Del Fattore Andrea, Luciani Matteo, Sullivan SK, Yan AC, Volpi L, Larizza L. Novel C16orf57 mutations in
patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of
all reported mutations. Orphanet Journal of Rare Diseases 2012 (7):7-7.
Comelli M, Falorni A, Iannilli A, D'annunzio G, Songini M, Cherubini V, Cerutti F, Novelli G, Bianchi L,
Piffer S, Lorini R, Roncarolo F, Tenconi M, Predieri B, Reali M, Medici A, Biagioni M, Gesuita R, Visalli
N, Bizzarri Carla, Chiarelli F, Tumini S, Prisco F, Confetto S, Frongia P, Marinaro A. Type 1 diabetes and
measles, mumps and rubella childhood infections within the Italian Insulin-dependent Diabetes Registry.
Diabetic Medicine 2012 (29):761-766.
Conte A, Brancati F, Garaci F, Toschi N, Bologna M, Fabbrini G, Falla M, Dallapiccola Bruno, Bollero P,
Floris R, Berardelli A. Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jawwinking synkinesis. Plos One 2012 (7):e51749-e51749.
Corrigan-Curay J, Cohen-Haguenauer O, O'Reilly M, Ross SR, Fan H, Rosenberg N, Somia N, King N,
Friedmann T, Dunbar C, Aiuti Alessandro, Naldini L, Baum C, von Kalle C, Kiem H.P, Montini E, Bushman
F, Sorrentino BP, Carrondo M, Malech H, Gahrton G, Shapiro R, Wolff L, Rosenthal E, Jambou R, Zaia J,
Kohn DB. Challenges in vector and trial design using retroviral vectors for long-term gene correction in
hematopoietic stem cell gene therapy. Molecular Therapy 2012 (20):1084-1094.
Costanzo Floriana, Menghini Deny, Caltagirone C, Oliveri M, Vicari Stefano. High frequency rTMS over
the left parietal lobule increases non-word reading accuracy. Neuropsychologia 2012 (50):2645-2651.
Cotugno N, Douagi I, Rossi Paolo, Palma Paolo. Suboptimal immune reconstitution in vertically HIV
infected children: a view on how HIV replication and timing of HAART initiation can impact on T and Bcell compartment. Clinical & Developmental Immunology 2012 ( ):805151-805151.
Crocoli Alessandro, Bagolan Pietro, Boldrini Renata, Natali Gian Luigi, De Ioris Maria Antonietta, Morini
Francesco. Congenital Askin tumor with favorable outcome: case report and review of the literature. Journal
of Pediatric Surgery 2012 (47):1440-1444.
Crostelli Marco, Mazza Osvaldo, Mariani Massimo. Free-hand pedicle screws insertion technique in the
treatment of 120 consecutive scoliosis cases operated without use of intraoperative neurophysiological
monitoring. European Spine Journal 2012 (21 Suppl 1):43-49.
Crostelli Marco, Mazza Osvaldo. AIS and spondylolisthesis. European Spine Journal 2012 (Epub, DOI
10.1007/s00586-012-2326-8).
Cullup T, Kho A.L, Dionisi Vici Carlo, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini Enrico
Silvio, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, Hoedt AE, Rogers
RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, AlKaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova
D, Gautel M, Jungbluth H. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with
defective autophagy. Nature Genetics 2012 (45):83-87.
Cusmai Raffaella, Martinelli Diego, Moavero R, Dionisi Vici Carlo, Vigevano Federico, Castana C, Elia
Mirella, Bernabei Silvia, Bevivino Elsa. Ketogenic diet in early myoclonic encephalopathy due to non
ketotic hyperglycinemia. European Journal of Paediatric Neurology 2012 (16):509-513.
Da Sacco Letizia, Masotti Andrea. Children do not like arsenic in their food. Journal of Exposure Science &
Environmental Epidemiology 2012 (22):424-425.
Da Sacco Letizia, Masotti Andrea. Diet's role in the toxicity of inorganic arsenic (iAs): A journey from soil
to children's mouth. Journal of Geochemical Exploration 2012 (Epub, DOI 10.1016/j.gexplo.2012.11.014).
Da Sacco Letizia, Masotti Andrea. Recent insights and novel bioinformatics tools to understand the role of
microRNAs binding to 5' untranslated region. International Journal of Molecular Sciences 2012 (14):480495.
Dal Molin A, Di Massimo DS, Braggion C, Bisogni S, Rizzi E, D'Orazio C, Di Toppa MV, Alghisi Federico,
Cristadoro S, Carnovale V, Festa G, Rampini S, Colombo C, Oneta A, Furnari ML, Calamia MA, Zunino
ML, Tuccio G, Spadea V, Messore B, Grosso B, Festini F. Totally implantable central venous access ports in
patients with cystic fibrosis: a multicenter prospective cohort study. Journal of Vascular Access 2012
(13):290-295.
D'Alessandro A, D'Aguanno S, Cencioni MT, Pieroni L, Diamantini A, Battistini L, Longone P, Spalloni A,
De Laurenzi V, Bernardini S, Federici Giorgio, Urbani A. Protein repertoire impact of Ubiquitin-Proteasome
System impairment: insight into the protective role of beta-estradiol. Journal of Proteomics 2012 (75):14401453.
Dall'Oglio Luigi, De Angelis Paola. Commentary on "esophageal endoscopic dilations". Journal of Pediatric
Gastroenterology and Nutrition 2012 (54):716-717.
Damasio M.B, Malattia C, Tanturri de Horatio Laura, Mattiuz C, Pistorio A, Bracaglia Claudia, Barbuti
Domenico, Boavida P, Lambot Juhan K, Mueller Ording L.S, Rosendahl K, Martini A, Magnano GM, Toma
Paolo. MRI of the wrist in juvenile idiopathic arthritis: proposal of a paediatric synovitis score by a
consensus of an international working group. Results of a multicentre reliability study. Pediatric Radiology
2012 (42):1047-1055.
D'Amico Adele, Bertini Enrico Silvio, Bianco F, Papacci P, Jacobson L, Vincent A, Mercuri E. Fetal
acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report. Neuromuscular
Disorders 2012 (22):546-548.
Danerek M, Marsal K, Cuttini Marina, Lingman G, Nilstun T, Dykes AK. Attitudes of Swedish midwives
towards management of extremely preterm labour and birth. Midwifery 2012 (28):E857-E864.
Danese S, Fiorino G, Rutella Sergio. Regulatory T-cell therapy for Crohn's disease: un vivo veritas.
Gastroenterology 2012 (143):1135-1138.
Danese S, Rutella Sergio, Vetrano S. Mesenchymal stromal cells in inflammatory bowel disease:
conspirators within the 'colitogenic niche'? Gut 2012 (Epub, DOI 10.1136/gutjnl-2012-303903).
Daniele Nicola, Scerpa Maria Cristina, Caniglia Maurizio, Ciammetti Chiara, Rossi Cecilia, Bernardo Maria
Ester, Locatelli Franco, Isacchi Giancarlo, Zinno Francesco. Overview of T-cell depletion in haploidentical
stem cell transplantation. Blood Transfusion 2012 (10):264-272.
D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio Maria Cristina,
Marino B, Dallapiccola Bruno, De Luca A. Novel and recurrent EVC and EVC2 mutations in Ellis-van
Creveld syndrome and Weyers acrofacial dyostosis. European Journal of Medical Genetics 2012 (Epub,
DOI 10.1016/j.ejmg.2012.11.005).
De Angelis Paola, Foschia Francesca, Romeo Erminia Francesca, Caldaro Tamara, Rea Francesca, Federici
di Abriola Giovanni, Caccamo Romina, Santi Maria Rita, Torroni Filippo, Monti Lidia, Dall'Oglio Luigi.
Role of endoscopic retrograde cholangiopancreatography in diagnosis and management of congenital
choledochal cysts: 28 pediatric cases. Journal of Pediatric Surgery 2012 (47):885-888.
De Benedetti Fabrizio, Brunner HI, Ruperto N, Kenwright A, Wright S, Calvo I, Cuttica R, Ravelli A,
Schneider R, Woo P, Wouters C, Xavier R, Zemel L, Baildam E, Burgos-Vargas R, Dolezalova P, Garay
SM, Merino R, Joos R, Grom A, Wulffraat N, Zuber Z, Zulian F, Lovell D, Martini A, PRINTO, PRCSG.
Randomized trial of tocilizumab in systemic juvenile idiopathic arthritis. The New England Journal of
Medicine 2012 (367):2385-2395.
De Benedictis Alessandro, Sarubbo S, Duffau H. Subcortical surgical anatomy of the lateral frontal region:
human white matter dissection and correlations with functional insights provided by intraoperative direct
brain stimulation. Journal of Neurosurgery 2012 (117):1053-1069.
De Ioris Maria Antonietta, Contoli Benedetta, Jenkner Alessandro, De Pasquale Maria Debora, Serra
Annalisa, De Sio Luigi, Pessolano Rosanna, Garganese Maria Carmen, Crocoli Alessandro, Corneli Teresa,
Boldrini Renata, Castellano Aurora. Comparison of two different conditioning regimens before autologous
transplantation for children with high-risk neuroblastoma. Anticancer Research 2012 (32):5527-5533.
De Luca A, Pellizzari Tregno F, Sau A, Pastore Anna, Palumbo C, Alama A, Cicconi R, Federici Giorgio,
Caccuri AM. Glutathione S-transferase P1-1 as a target for mesothelioma treatment. Cancer Science 2012
(Epub, DOI 10.1111/cas.12061).
De Pasquale Loredana, D'Amico Adele, Verardo Margherita, Petrini Stefania, Bertini Enrico Silvio, De
Benedetti Fabrizio. Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.
Neurology 2012 (78):1309-1314.
De Pasquale Valentina, Natali Gian Luigi, Falappa Piergiorgio, Gerocarni Nappo Simona, Salerno
Annamaria, Caione Paolo. Selective arterial embolization of giant renal tuberous sclerosis. Indian Journal of
Pediatrics 2012 (Epub, DOI 10.1007/s12098-012-0716-x).
De Santis E, Di Vito M, Perrone G.A, Mari E, Osti Maria, De Antoni E, Coppola L, Tafani M, Carpi A,
Russo MA. Overexpression of pro-inflammatory genes and down-regulation of SOCS-1 in human PTC and
in
hypoxic
BCPAP
cells.
Biomedicine
&
Pharmacotherapy
2012
(Epub,
DOI
10.1016/j.biopha.2012.08.003).
De Ville de Goyet Jean, D'Ambrosio Giuseppe, Grimaldi Chiara. Surgical management of portal
hypertension in children. Seminars in Pediatric Surgery 2012 (21):219-232.
De Ville de Goyet Jean, Lo Zupone Cristina, Grimaldi Chiara, D'Ambrosio Giuseppe, Candusso Manila,
Torre Giuliano, Monti Lidia. Meso-Rex bypass as an alternative technique for portal vein reconstruction at or
after liver transplantation in children: review and perspectives. Pediatric Transplantation 2012 (Epub, DOI
10.1111/j.1399-3046.2012.01784.x).
De Vito Rita, Alisi Anna, Masotti Andrea, Ceccarelli Sara, Panera Nadia, Citti Arianna, Salata M, Valenti L,
Feldstein AE, Nobili Valerio. Markers of activated inflammatory cells correlate with severity of liver
damage in children with nonalcoholic fatty liver disease. International Journal of Molecular Medicine 2012
(30):49-56.
del Castillo J, Lopez-Herce J, Matamoros M, Canadas S, Rodriguez-Calvo A, Cecchetti Corrado, RodriguezNunez A, Carrillo Alvarez A, Iberoamerican Pediat Cardiac. Hyperoxia, hypocapnia and hypercapnia as
outcome factors after cardiac arrest in children. Resuscitation 2012 (83):1456-1461.
Del Chierico Federica, Masotti Andrea, Onori Manuela, Fiscarelli Ersilia, Mancinelli Livia, Ricciotti
Gabriela, Alghisi Federico, Dimiziani L, Manetti C, Urbani A, Muraca Maurizio, Putignani Lorenza.
MALDI-TOF MS proteomic phenotyping of filamentous and other fungi from clinical origin. Journal of
Proteomics 2012 (75):3314-3330.
Del Chierico Federica, Vernocchi Pamela, Bonizzi L, Carsetti Rita, Castellazzi AM, Dallapiccola Bruno, de
Vos W, Guerzoni ME, Manco Melania, Marseglia GL, Muraca Maurizio, Roncada P, Salvatori Guglielmo,
Signore F, Urbani A, Putignani Lorenza. Early-life gut microbiota under physiological and pathological
conditions: the central role of combined meta-omics-based approaches. Journal of Proteomics 2012
(75):4580-4587.
Del Fattore Andrea, Teti A. The tight relationship between osteoclasts and the immune system. Inflammation
& Allergy Drug Targets 2012 (11):181-187.
Del Fattore Andrea,Teti A, Rucci N. Bone cells and the mechanisms of bone remodelling. Frontiers in
Bioscience 2012 (4):2302-21.
Del Gaudio C, Carotti Adriano, Grigioni M, Morbiducci U. Nonlinear analysis of heart rate variability to
assess the reaction of ewe fetuses undergoing fetal cardiac surgery. International Journal of Artificial
Organs 2012 (35):376-384.
Del Proposto G, Cerrone P, Sansone L, Daniele Nicola, Sinopoli S, Lanti A, Ferraro A.S, Adorno G, Isacchi
Giancarlo. Platelet storage and flow cytometry, an interesting couple. Transfusion and Apheresis Science
2012 (47):121-122.
Della Corte Claudia, Alisi Anna, Saccari Alessia, De Vito Rita, Vania A, Nobili Valerio. Nonalcoholic Fatty
liver in children and adolescents: an overview. The Journal of Adolescent Health 2012 (51):305-312.
Della Corte Claudia, Comparcola Donatella, Nobili Valerio. Hepatitis B virus infection in children. Clinics
and Research in Hepatology and Gastroenterology 2012 (36):291-293.
Della Corte Claudia, Fintini Danilo, Giordano Ugo, Cappa Marco, Brufani Claudia, Majo Fabio, Mennini
Chiara, Nobili Valerio. Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the
importance of aetiology. Clinical Endocrinology 2012 (Epub, DOI 10.1111/j.1365-2265.2012.04498.x).
Della Corte Claudia, Sartorelli Maria Rita, Sindoni C D, Girolami Elia, Giovannelli Luigi, Comparcola
Donatella, Nobili Valerio. Autoimmune hepatitis in children: an overview of the disease focusing on current
therapies. European Journal of Gastroenterology & Hepatology 2012 (24):739-746.
Della Marca G, Scarano E, Leoni C, Dittoni S, Losurdo A, Testani E, Colicchio S, Gnoni V, Vollono
Catello, Zampino G. Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy. Sleep
and Breathing 2012 (16):5-10.
Delvecchio M, Ludovico O, Bellacchio Emanuele, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco
M, Trischitta V, Carella M. MODY Type 2 P59S GCK mutant: founder effect in South of Italy. Clinical
Genetics 2012 (Epub, DOI 10.1111/j.1399-0004.2012.01856.x).
Dentici Maria Lisa, Placidi S, Francalanci Paola, Capolino Rossella, Rinelli Gabriele, Marino B, Digilio
Maria Cristina, Dallapiccola Bruno. Association of DiGeorge anomaly and caudal dysplasia sequence in a
neonate born to a diabetic mother. Cardiology in the Young 2012 ( ):1-4.
Dessi M, Noce A, Dawood KF, Galli F, Taccone Gallucci M, Fabrini R, Bocedi A, Massoud R, Fucci G,
Pastore Anna, Manca di Villahermosa S, Zingaretti V, Federici G, Ricci G. Erythrocyte glutathione
transferase: a potential new biomarker in chronic kidney diseases which correlates with plasma
homocysteine. Amino Acids 2012 (43):347-354.
Devuyst O, Antignac C, Bindels RJ, Chauveau D, Emma Francesco, Gansevoort R, Maxwell PH, Ong AC,
Remuzzi G, Ronco P, Schaefer F. The ERA-EDTA Working Group on inherited kidney disorders.
Nephrology Dialysis Transplantation 2012 (27):67-69.
Di Ciommo Vincenzo Maria, Forcella E, Cotugno Giovanna. Living with phenylketonuria from the point of
view of children, adolescents, and young adults: a qualitative study. Journal of Developmental and
Behavioral Pediatrics 2012 (33):229-235.
Di Girolamo Francesco, Del Chierico Federica, Caenaro G, Lante I, Muraca Maurizio, Putignani Lorenza.
Human serum proteome analysis: new source of markers in metabolic disorders. Biomarkers in Medicine
2012 (6):759-773.
Di Nardo Matteo, Perrotta Daniela, Gesualdo Francesco, Chidini G, Calderini E, Pelosi P. Air-oxygen
helmet delivered continuous positive airway pressure to manage respiratory failure due to bronchiolitis. Acta
Paediatrica 2012 (101):e265-e266.
Diamanti Antonella, Basso Maria Sole, Panetta Fabio, Grimaldi Chiara, Iacobelli Barbara Daniela, Torre
Giuliano. Colon and intestinal adaptation in children with short bowel syndrome. Journal of Parenteral and
Enteral Nutrition 2012 (36):501-501.
Diamanti Antonella, Di Ciommo Vincenzo Maria, Tentolini Andrea, Lezo A, Spagnuolo MI, Campanozzi A,
Panetta Fabio, Basso Maria Sole, Elia Domenica, Gambarara Manuela. Home enteral nutrition in children: a
14-year multicenter survey. European Journal of Clinical Nutrition 2012 (Epub, DOI
10.1038/ejcn.2012.184).
Diamanti Antonella, Panetta Fabio, Basso Maria Sole, Bracci Fiammetta, Knafelz Daniela, Papadatou
Bronislava, Goffredo Bianca Maria, Torre Giuliano. Plasma citrulline in Crohn's disease as a marker of
inflammation or disease localization. Journal of Clinical Gastroenterology 2012 (46):622-623.
Diamanti Antonella, Papa Raffaele Edo, Panetta Fabio. Disappearance of the gallstones under SMOFlipid:
true or coincidental association? Clinical Nutrition 2012 (Epub, DOI 10.1016/j.clnu.2012.11.002).
Diamanti Antonella, Rollo Massimo, Monti Lidia, Candusso Manila, De Ville de Goyet Jean. Surgically
assisted trans-hepatic anterior approach for central venous catheter placement: Safety and efficacy. Journal
of Pediatric Surgery 2012 (47):2353-2356.
Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y,
Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K,
Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt K.D, Aubry Rozier B, Superti Furga A, Dallapiccola
Bruno, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Human Mutation 2012
(33):1175-1181.
Digilio Maria Cristina, Bernardini L, Consoli F, Lepri Francesca Romana, Giuffrida M.G, Baban Anwar,
Surace Cecilia, Ferese R, Angioni Adriano, Novelli A, Marino B, De Luca A, Dallapiccola Bruno.
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association
with pulmonary valve stenosis. European Journal of Medical Genetics 2012 (Epub, DOI
10.1016/j.ejmg.2012.12.004).
Digilio Maria Cristina, Bernardini L, Gagliardi Maria Giulia, Versacci Paolo, Baban Anwar, Capolino
Rossella, Dentici Maria Lisa, Roberti Maria Cristina, Angioni Adriano, Novelli A, Marino B, Dallapiccola
Bruno. Syndromic noncompaction of the left ventricle: associated chromosomal anomalies. Clinical Genetics
2012 (Epub, DOI 10.1111/cge.12069, 10.1111/cge.12069).
Digilio Maria Cristina, Dallapiccola Bruno, Marino B. Atrioventricular canal defect as a sign of laterality
defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction.
Pediatric Cardiology 2012 (33):874-875.
Digilio Maria Cristina, Lepri Francesca Romana, Dentici Maria Lisa, Henderson A, Baban Anwar, Roberti
Maria Cristina, Capolino Rossella, Versacci P, Surace Cecilia, Angioni Adriano, Tartaglia M, Marino B,
Dallapiccola Bruno. Atrioventricular canal defect in patients with RASopathies. European Journal of Human
Genetics 2012 (Epub, DOI 10.1038/ejhg.2012.145).
Diociaiuti Andrea, Castiglia D, Morini Francesco, Boldrini Renata, Fortugno Paola, Zambruno G, El
Hachem May Chebl. Long-term follow-up of a spontaneously improving patient with junctional
epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta DermatoVenereologica 2012 (Epub, DOI 10.2340/00015555-1381).
Donati S, Giambi C, Declich S, Salmaso S, Filia A, Ciofi degli Atti Marta Luisa, Alibrandi M.P, Brezzi S,
Carozzi F, Collina N, Franchi D, Lattanzi A, Meda M, Minna MC, Nannini R, Gallicchio G, Bella A, PreGio
Working Grp. Knowledge, attitude and practice in primary and secondary cervical cancer prevention among
young adult Italian women. Vaccine 2012 (30):2075-2082.
Dotta Andrea, Chukhlantseva Natalia. Ontogeny and drug metabolism in newborns. The Journal of
Maternal-Fetal & Neonatal Medicine 2012 (25 Suppl 4):83-84.
Draisci G, Catarci S, Vollono Catello, Zanfini B A, Pazzaglia C, Cadeddu C, Virdis D, Valeriani
Massimiliano. Pregnancy-induced analgesia: a combined psychophysical and neurophysiological study.
European Journal of Pain 2012 (16):1389-1397.
Esposito S, Baggi E, Villani Alberto, Norbedo S, Pellegrini G, Bozzola Elena, Palumbo E, Bosis S, Nigro G,
Garazzino S, Principi N. Management of paediatric Lyme disease in non-endemic and endemic areas: data
from the Registry of the Italian Society for Pediatric Infectious Diseases. European Journal of Clinical
Microbiology and Infectious Diseases 2012 (Epub, DOI 10.1007/s10096-012-1768-6).
Esposito S, Marchese Anna, Tozzi Alberto Eugenio, Rossi G.A, Da Dalt L, Bona G, Pelucchi C, Schito GC,
Principi N, the Italian Pneumococcal CAP group. Bacteremic pneumococcal community-acquired
pneumonia in children less than 5 years of age in Italy. The Pediatric Infectious Disease Journal 2012
(31):705-710.
Fabrini R, Bocedi A, Del Grosso E, Morici L, Federici Giorgio, Palleschi A, Ricci G. Erythrocyte
glutathione transferase: a novel biomarker to check environmental pollution hazardous for humans.
Biochemical and Biophysical Research Communications 2012 (426):71-75.
Faggiano Francesco, Ritrovato Matteo, Freda Paola, De Vivo Liliana, D'Alessandro Luigi, Derrico Pietro.
Supporting clinical engineering in Italy: results of a survey conducted by the AIIC. Ieee Pulse 2012 (3):3339.
Faienza M.F, Ventura A, Lauciello R, Crinò Antonino, Ragusa L, Cavallo L, Spera Sabrina, Grugni G.
Analysis of endothelial protein C receptor gene and metabolic profile in Prader-Willi syndrome and obese
subjects. Obesity 2012 (20):1866-1870.
Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi Vici Carlo, Ventura A, Zhou Q,
Stanley CA, Burlina A. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital
hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations. Gene 2012 (Epub,
DOI 10.1016/j.gene.2012.12.055).
Fanciullo L, Iovane B, Gkliati D, Monti G, Sponzilli I, Cangelosi AM, Matrorilli C, Chiari G, Barbetti
Fabrizio, Dall'Aglio E, Vanelli M. Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through
molecular genetics in two children and in one adult after a long period of insulin treatment. Acta Bio-Medica
2012 (83):56-61.
Fascetti-Leon F, Gamba PG, Dall'Oglio Luigi, Pane Alessandro, De Angelis GL, Bizzarri B, Fava G, Maestri
L, Cheli M, Di Nardo G, La Riccia A, Marrello S, Gandullia P, Romano C, D'Antiga L, Betalli P.
Complications of percutaneous endoscopic gastrostomy in children: Results of an Italian multicenter
observational study. Digestive and Liver Disease 2012 (44):655-659.
Fava L, Vicari Stefano, Valeri Giovanni, D'Elia Lidia, Arima S, Strauss K. Intensive Behavioral Intervention
for school-aged children with autism: una Breccia nel Muro (UBM)-A comprehensive behavioral model.
Research in Autism Spectrum Disorders 2012 (6):1273-1288.
Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A, Caroli F, Cattalini M, Caorsi R, Zulian F,
Tommasini A, Insalaco Antonella, Sormani MP, Baldi M, Ceccherini I, Martini A, Gattorno M. Clinical
impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian
population. Annals of the Rheumatic Diseases 2012 (71):1961-1965.
Ferrari A, De Salvo GL, Dall'Igna P, Meazza C, De Leonardis F, Manzitti C, De Ioris Maria Antonietta,
Casanova M, Carli M, Bisogno G. Salvage rates and prognostic factors after relapse in children and
adolescents with initially localised synovial sarcoma. European Journal of Cancer 2012 (48):3448-3455.
Ferrari Fabio,Laviani Mancinelli Raoul. The air-Q (R) intubating laryngeal airway for endotracheal
intubation in children with difficult airway: our experience. Pediatric Anesthesia 2012 (22):500-500.
Ferraro D, Vollono Catello, Miliucci Roberto, Virdis D, De Armas L, Pazzaglia C, Le Pera D, Tarantino
Samuela, Balestri Martina, Di Trapani G, Valeriani Massimiliano. Habituation to pain in "medication
overuse headache": a CO2 laser-evoked potential study. Headache 2012 (52):792-807.
Fierabracci Alessandra, Bizzarri Carla, Palma Alessia, Milillo Annamaria, Bellacchio Emanuele, Cappa
Marco. A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy syndrome (APECED). Gene 2012 (511):113-117.
Fierabracci Alessandra, Cascioli Simona, Ceccarelli Sara, Nobili Valerio. T regulatory cell number and
function: the autoimmune traits in liver diseases. Journal of Hepatology 2012 (57):1398-1399.
Fierabracci Alessandra, Milillo Annamaria, Locatelli Franco, Fruci Doriana. The putative role of
endoplasmic reticulum aminopeptidases in autoimmunity: insights from genomic-wide association studies.
Autoimmunity Reviews 2012 (12):281-288.
Fierabracci Alessandra. Proteasome inhibitors: a new perspective for treating autoimmune diseases. Current
Drug Targets 2012 (13):1665-1675.
Figà Talamanca L, Verdolotti Tommaso, Colafati Giovanna Stefania, Bernardi Bruno. Hemimegalencephaly
associated with congenital infiltrating lipomatosis of the face: a case report. Neuropediatrics 2012 (43):349352.
Filippini P, Cesario A, Fini M, Locatelli Franco, Rutella Sergio. The yin and yang of non-neuronal
nicotinic receptors in inflammation and autoimmunity. Current Drug Targets 2012 (13):644-655.
7-
Filippini P, Papa ND, Sambataro D,Del Bufalo A, Locatelli Franco, Rutella Sergio. Emerging concepts on
inhibitors of indoleamine 2,3-dioxygenase in rheumatic diseases. Current Medicinal Chemistry 2012
(19):5381-5393.
Finistrella Viviana, Manco Melania, Ferrara A, Rustico C, Presaghi F, Morino Giuseppe. Cross-sectional
exploration of maternal reports of food neophobia and pickiness in preschooler-mother dyads. Journal of the
American College of Nutrition 2012 (31):152-159.
Finocchi Andrea, Palma Paolo. A 2-month-old male with pyuria and persistent fever. Pediatric Annals 2012
(Epub, DOI 10.3928/00904481-20120924-06).
Fintini Danilo, Di Giacinto B, Brufani Claudia, Cafiero Giulia, Patera Ippolita Patrizia, Turchetta Attilio,
Giordano Ugo, Nobili Valerio, Pelliccia A, Calzolari Armando, Cappa Marco. Impaired energy expenditure
despite normal cardiovascular capacity in children with type 1 diabetes. Hormone Research in Paediatrics
2012 (78):1-7.
Fintini Danilo, Pietrobattista Andrea, Morino Giuseppe, Cafiero Giulia, Calzolari Armando, Turchetta
Attilio, Brufani Claudia, Alisi Anna, Giordano Ugo, Nobili Valerio. Energy expenditure and insulin
sensitivity evaluation in obese children affected by hepatosteatosis. International Journal of Pediatric
Obesity 2012 (7):e14-E17.
Fiocchi Alessandro, Burks W, Bahna SL, Bielory L, Boyle RJ, Cocco R, Dreborg S, Goodman R, Kuitunen
M, Haahtela T, Heine RG, Lack G, Osborn DA, Sampson H, Tannock GW, Lee BW, on behalf of the WAO
Special Committee on Food Allergy and Nutrition. Clinical Use of Probiotics in Pediatric Allergy (CUPPA):
a world allergy organization position paper. World Allergy Organ Journal 2012 (5):148-167.
Fortugno Paola, Furio L, Teson M, Berretti M, El Hachem May Chebl, Zambruno G, Hovnanian A,
D'Alessio M. The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease
deregulation: implications for atopic dermatitis. Human Molecular Genetics 2012 (21):4187-4200.
Fortugno Paola, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D. A synonymous mutation in
SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. Journal of
Human Genetics 2012 (57):311-315.
Franca R, Rebora P, Basso G, Biondi A, Cazzaniga G, Crovella S, Decorti G, Fagioli F, Giarin E, Locatelli
Franco, Poggi V, Valsecchi MG, Rabusin M. Glutathione S-transferase homozygous deletions and relapse in
childhood acute lymphoblastic leukemia: a novel study design in a large Italian AIEOP cohort.
Pharmacogenomics 2012 (13):1905-1916.
Frasinariu O, Ceccarelli Sara, Alisi Anna, Moraru E, Nobili Valerio. Gut-liver axis and fibrosis in
nonalcoholic fatty liver disease: An input for novel therapies. Digestive and Liver Disease 2012 (Epub, DOI
10.1016/j.dld.2012.11.010).
Fruci Doriana, Benevolo M, Cifaldi Loredana, Lorenzi Silvia, Lo Monaco E, Tremante E, Giacomini P.
Major histocompatibility complex class i and tumour immuno-evasion: how to fool T cells and natural killer
cells at one time. Current Oncology 2012 (19):39-41.
Fruci Doriana, Locatelli Franco, Cifaldi Loredana. ERAAP modulation: a possible novel strategy for cancer
immunotherapy? Oncoimmunology 2012 (1):81-82.
Furst DE, Keystone EC, Braun J, Breedveld FC, Burmester GR, De Benedetti Fabrizio, Dörner T, Emery P,
Fleischmann R, Gibofsky A, Kalden JR, Kavanaugh A, Kirkham B, Mease P, Sieper J, Singer NG, Smolen
JS, Van Riel PL, Weisman MH, Winthrop K. Updated consensus statement on biological agents for the
treatment of rheumatic diseases, 2011. Annals of the Rheumatic Diseases 2012 (71):2-45.
Galeano Federica, Rossetti Claudia, Tomaselli Sara, Cifaldi Loredana, Lezzerini Marco, Pezzullo Marco,
Boldrini Renata, Massimi L, Di Rocco C.M, Locatelli Franco, Gallo Angela. ADAR2-editing activity
inhibits glioblastoma growth through the modulation of the CDC14B/Skp2/p21/p27 axis. Oncogene 2012
(Epub, DOI 10.1038/onc.2012.125).
Gallelli L, Paparazzo R, Maximova N, Lazzerini M, Reale Antonino, Renna S, Mannelli F, Manteghetti F,
Da Dalt L, Palleria C, Banchieri N, Urbino A, Miglietta M, Cardoni G, Pompilio A, Arrighini A, Lazzari C,
Messi G. Off-label prescribing patterns of antiemetics in children: a multicenter study in Italy. European
Journal of Pediatrics 2012 (Epub, DOI 10.1007/s00431-012-1894-2).
Gandolfo Fabrizio, Brancaccio Gianluca, Secinaro Aurelio, Amodeo Antonio. Perigraft seroma mimicking
cardiac tamponade after implantation of Berlin Heart EXCOR device in an infant. The Journal of Thoracic
and Cardiovascular Surgery 2012 (Epub, DOI 10.1016/j.jtcvs.2012.09.016).
Gaudio E, Nobili Valerio, Franchitto A, Onori P, Carpino G. Nonalcoholic fatty liver disease and
atherosclerosis. Internal and Emergency Medicine 2012 (7):297-305.
Gazzellini Simone, Strazzer S, Stortini Massimo, Veredice Chiara, Beretta E, Lispi Maria Luisa, Petacchi
M.E, Menna M, Cipriani P, Zampolini M, Castelli Enrico. Pediatric rehabilitation of severe acquired brain
injury: a multicenter survey. European Journal of Physical and Rehabilitation Medicine 2012 (48):423-431.
Giampaoli S, Chillemi G, Valeriani F, Lazzaro D, Borro M, Gentile G, Simmaco M, Zanni Ginevra, Berti A,
Romano Spica V. The SNPs in the human genetic blueprint era. New Biotechnology 2012 (Epub, DOI
10.1016/j.nbt.2012.11.015).
Giancane G, Tanturri de Horatio Laura, Buonuomo Paola Sabrina, Barbuti Domenico, Lais G,Cortis E.
Swollen knee due to primary synovial chondromatosis in pediatrics: a rare and possibly misdiagnosed
condition. Rheumatology International 2012 (Epub, DOI 10.1007/s00296-012-2382-8).
Gianchecchi Elena, Palombi Melania, Fierabracci Alessandra. The putative role of the C1858T
polymorphism of protein tyrosine phosphatase PTPN22 gene in autoimmunity. Autoimmunity Reviews 2012
(Epub, DOI 10.1016/j.autrev.2012.12.003).
Giantin M, Zancanella V, Lopparelli RM, Granato A, Carletti M, Vilei MT, Muraca Maurizio, Baratto C,
Dacasto M. Effects of Time Culture and Prototypical Cytochrome P450 3A (CYP3A) Inducers on
CYP2B22, CYP2C, CYP3A and Nuclear Receptor (NR) mRNAs in Long-term Cryopreserved Pig
Hepatocytes (CPHs). Drug Metabolism and Pharmacokinetics 2012 (27):495-505.
Giovannetti A M, Pagani M, Sattin D, Covelli V, Raggi A, Strazzer S, Castelli Enrico, Trabacca A,
Martinuzzi A, Leonardi M. Children in vegetative state and minimally conscious state: patients' condition
and caregivers' burden. Scientific World Journal 2012 ( ):232149-232149.
Giovanniello T, Claps Daniela, Carducci C, Carducci C, Blau N, Vigevano Federico, Antonozzi I, Leuzzi V.
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. Journal of Child
Neurology 2012 (27):523-525.
Giovannoni Isabella, Terracciano Alessandra, Gennari Fabrizio, David E, Francalanci Paola, Santorelli FM.
Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency. Hepatology Research
2012 (42):327-331.
Gregori D, Foltran F, Ballali S, Berchialla P, Rodriguez H, Zaupa P, Spitzer P, Demetriades C, Slapák I,
Sokolova L, Petridou E, D'Alessandro A, Clemente MA, Jakubíková J, Van As S, De Koning T, Van As S,
Passali D, Chinsky A, Rodriguez H, Brkic F, Mladina R, Kalakouta O, Melis A, Máchalová M, CayeThomasen P, Elsheikh E, Ragab A, Pitkäranta A, Necker PC, Derelle J, Duwelz M, Francois M,
Pezzettigotta S, Righini C, Stephane P, Buzarov J, Bernhard R, Jahnke V, Onder G, Zieriacks P, Kalampoki
V, Simasko N, Skoulakis C, Camaioni A, Cutrone C, Gaudini E, Grasso D, Mansi N, Messi G, Orlando C,
Preziosi S, Sorrentini I, Trozzi Marilena, Vigo A, Villari G, Passali GC, Passali FM, Nishida Y, Ussatayeva
G, De Hoyos R, Ologe FE, Nasrullah M, Melendez A, Chmielik M, Belchior T, Cobzeanu MD, Gheorghe
DC, Iorgulescu A, Caius-Codrut, Toader M, Alexandrescu G, Barkociová J, Havelkova B, Zargi M,
Pumarola F, Rubio L, Stierna P, Hsu WC, Arj-Ong S, Chomchai C, Hoep L, Rinkel R, Baskent EA, Erikci
VS, Onerci M, Graham J, Khwaja S, Raine C. The Susy Safe project overview after the first four years of
activity. International Journal of Pediatric Otorhinolaryngology 2012 (76):S3-S11.
Grimaldi Chiara, Crocoli Alessandro, De Galasso Lara, Picca Stefano, Natali Gian Luigi, De Ville de Goyet
Jean. Immediate use of an arteriovenous prosthetic graft for life-saving dialysis in a child. Pediatric
Nephrology 2012 (27):2311-2313.
Grimaldi Chiara, De Ville de Goyet Jean, Nobili Valerio. Portal hypertension in children. Clinics and
Research in Hepatology and Gastroenterology 2012 (36):260-261.
Grimaldi Chiara, Monti Lidia, Falappa Piergiorgio, D'Ambrosio Giuseppe, Manca A, De Ville de Goyet
Jean. Congenital intrahepatic portohepatic shunt managed by interventional radiologic occlusion: a case
report and literature review. Journal of Pediatric Surgery 2012 (47):e27-31.
Grossi Armando, Palma Alessia, Zanni Ginevra, Novelli A,Loddo S, Cappa Marco, Fierabracci Alessandra.
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. Gene
2012 (Epub, DOI 10.1016/j.gene.2012.12.007).
Grugni G, Crinò Antonino, Bedogni G, Cappa Marco, Sartorio A, Corrias A, Di Candia S, Gargantini L,
Iughetti L, Pagano C, Ragusa L, Salvatoni A, Spera Sabrina, Vettor R, Chiumello G, Brambilla P. Metabolic
syndrome in adult patients with Prader-Willi syndrome. Nutrition Metabolism and Cardiovascular Diseases
2012 (Epub, DOI 10.1016/j.numecd.2012.11.006).
Grutter Giorgia, Alfieri Sara, Parisi Francesco. Brain natriuretic peptide level in a small series of children
and grown-ups with congenital heart defects with chronic cardiac failure. Cardiology in the Young 2012 (
):1-3.
Grutter Giorgia, Di Carlo Duccio, Gandolfo Fabrizio, Adorisio Rachele, Alfieri Sara, Michielon Guido,
Carotti Adriano, Pongiglione Giacomo. Plastic bronchitis after extracardiac Fontan operation. The Annals of
Thoracic Surgery 2012 (94):860-864.
Grutter Giorgia, Giordano Ugo, Alfieri Sara, Iodice Francesca, Drago Fabrizio, Ravà Lucilla, Silvetti
Massimo Stefano. Heart rate variability abnormalities in young patients with dilated cardiomyopathy.
Pediatric Cardiology 2012 (33):1171-1174.
Guccione Paolo, Milanesi O, Hijazi Z M, Pongiglione Giacomo. Transcatheter pulmonary valve implantation
in native pulmonary outflow tract using the Edwards SAPIEN&trade, transcatheter heart valve. European
Journal of Cardio-Thoracic Surgery 2012 (41):1192-1194.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri Francesca, Copetti
M, Lamorte G, Digilio Maria Cristina, Marino B, Zaza A, den Hertog J, Dallapiccola Bruno, De Luca A. A
variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of
Fallot. European Journal of Human Genetics 2012 (Epub, DOI 10.1038/ejhg.2012.109).
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli Diego, Crespo
PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi Vici Carlo. Suggested guidelines
for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases 2012 (7):32.
Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M,
Bredius R, Finocchi Andrea, Cancrini Caterina, Aiuti Alessandro, Porta F, Lanfranchi A, Ridella M,
Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al
Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman
CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB. Outcome of hematopoietic
stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency. Blood 2012
(120):3615-3624.
Heinzen E, Swoboda K, Hitomi Y, Gurrieri F, De Vries B, Tiziano F, Fontaine B, Walley N, Heavin S,
Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney M, Newcomb T, Viollet L, Huff C, Jorde L, Reyna
S, Murphy K, Shianna K, Gumbs C, Little L, Silver K, Ptacek L, Haan J, Ferrari M, Bye A, Herkes G,
Whitelaw C, Webb D, Lynch B, Uldall P, King M, Scheffer I, Neri G, Arzimanoglou A, Van Den
Maagdenberg A, Sisodiya S, Mikati M, Goldstein D, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N,
Ferrari M, Van Den Maagdenberg A, Zucca Claudio, Franchini F, Vavassori R, Gobbi G, Granata T,
Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano Federico, Oechsler C, Nicole S, Ninan M,
Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Laan L, Peetersscholte C, Casaer P,
Casari G, Sange G, Spiel G, Martinelliboneschi F, Bassi MT, Schyns T, Poncelin D. De novo mutations in
ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics 2012 (Epub, DOI 10.1038/ng.2358).
Herman S.B, Guo T, McGinn D.M, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan
M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio Maria Cristina, Marino B, Dallapiccola Bruno,
Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D,
Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE, and the
International Chromosome 22q11.2 Consortium. Overt cleft palate phenotype and TBX1 genotype
correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. American Journal of
Medical Genetics Part A 2012 (158A):2781-2787.
Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, Gruhn B, Klingebiel T, Thol F, Schlegelberger B,
Baumann I, Strahm B, Stary J, Locatelli Franco, Zecca M, Bergstraesser E, Dworzak M, van den HeuvelEibrink MM, De Moerloose B, Ogawa S, Niemeyer CM, Wlodarski MW; European Working Group of MDS
in Childhood. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to
exert a driver effect in childhood MDS and JMML. Blood 2012 (119):e96-9.
Huyghe A, Horzinski L, Henaut A, Gaillard M, Bertini Enrico Silvio, Schiffmann R, Rodriguez D, Dantal Y,
Boespflug-Tanguy O, Fogli A. Developmental splicing deregulation in leukodystrophies related to EIF2B
mutations. Plos One 2012 (7):e38264.
Iannelli Maria, Di Carlo Duccio, Secinaro Aurelio, Villani Alberto. A rare cause of chest pain: a partial
congenital absence of the pericardium. European Journal of Cardio-Thoracic Surgery 2012 (Epub, DOI
10.1093/ejcts/ezs322).
Iglesias DM, El-Kares R, Taranta Anna, Bellomo Francesco, Emma Francesco, Besouw M, Levtchenko E,
Toelen J, van den Heuvel L, Chu L, Zhao J, Young YK, Eliopoulos N, Goodyer P. Stem cell microvesicles
transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. Plos One 2012
(7):e42840.
Indolfi P, Spreafico F, Collini P, Cecchetto G, Casale F, Terenziani M, Schiavetti A, Pierani P, Piva L,
Cuzzubbo D, De Pasquale Maria Debora, Pota E, Inserra Alessandro, Bisogno G. Metastatic renal cell
carcinoma in children and adolescents: a 30-year unsuccessful story. Journal of Pediatric
Hematology/Oncology 2012 (34):e277-E281.
Inserra Alessandro, Crocoli Alessandro, Conforti Andrea, De Petris L, Jenkner Alessandro. Trimming longterm tunneled central venous catheters in pediatric patients. Pediatric Blood & Cancer 2012 (Epub, DOI
10.1002/pbc.24310).
Insola A, Valeriani Massimiliano, Mazzone P. Targeting the pedunculopontine nucleus: a new
neurophysiological method based on somatosensory evoked potentials to calculate the distance of the deep
brain stimulation lead from the obex. Neurosurgery 2012 (71):96-103.
Iodice Francesca, Testa Giudeppina, Amodeo Antonio, Cogo Paola. Inappropriate use of neurally adjusted
ventilator assist. BMJ Case Reports 2012 (2012):10.1136/bcr-10-2011-5029.
La Rosa Guido, Giglio Giancarlo, Oggiano Leonardo. Sagittal profile control in patients affected by
neurological scoliosis using Universal Clamps: a 4-year follow-up study. European Spine Journal 2012 (21
Suppl 1):32-36.
Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello Chiara, Bertini Enrico
Silvio, Aloisi F, Petrucci TC, Ambrosini E. Megalencephalic leukoencephalopathy with subcortical cysts
protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to
osmotic stress: dysregulation by pathological mutations. Human Molecular Genetics 2012 (21):2166-2180.
Larici AR, Amato M, Ordóñez P, Maggi F, Menchini Laura, Caulo A, Calandriello L, Vallati G, Giunta S,
Crecco M, Bonomo L. Detection of noncalcified pulmonary nodules on low-dose MDCT: comparison of the
sensitivity of two CAD systems by using a double reference standard. Radiologia Medica 2012 (117):953967.
Lemson J, Nusmeier A, van der Hoeven J G, Lehman R, Cecchetti Corrado. The pulmonary artery catheter
in the pediatric intensive care unit: not the way to go. Pediatric Critical Care Medicine 2012 (13):250-251.
Leonardi Benedetta, Taylor AM, Mansi T, Voigt I, Sermesant M, Pennec X, Ayache N, Boudjemline Y,
Pongiglione Giacomo. Computational modelling of the right ventricle in repaired tetralogy of Fallot: can it
provide insight into patient treatment? European Heart Journal Cardiovascular Imaging 2012 (Epub, DOI
10.1093/ehjci/jes239).
Leonardi M, Sattin D, Giovannetti AM, Pagani M, Strazzer S, Villa F, Martinuzzi A, Buffoni M, Castelli
Enrico, Lispi Maria Luisa, Trabacca A, Gennaro L, Raggi A. Functioning and disability of children and
adolescents in a vegetative state and a minimally conscious state: identification of ICF-CY-relevant
categories. International Journal of Rehabilitation Research 2012 (35):352-359.
Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A,
Clish CB, Rimoldi M, Ciusani E, Bertini Enrico Silvio, Nardocci N, Mootha VK, Tiranti V. Metabolic
consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Molecular
Genetics and Metabolism 2012 (105):463-471.
Li Pira Giuseppina, Ivaldi F, Manca F. Selective binding of CD4 and CD8 T-cells to antigen presenting cells
for enrichment of CMV and HIV specific T-lymphocytes. Journal of Immunological Methods 2012
(376):125-131.
Li Pira Giuseppina, Starc Nadia, Conforti Antonella, Bertaina Alice, Rutella Sergio, Locatelli Franco, Manca
Fabrizio. Lymphocyte proliferation specific for recall, CMV and HIV antigens in miniaturized and
automated format. Journal of Immunological Methods 2012 (384):135-142.
Libernini L, Lupis C, Mastrangelo M, Carrozzo Rosalba, Santorelli FM, Inghilleri M, Leuzzi V.
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine
phosphorylase gene in two Italian brothers. Neuropediatrics 2012 (43):201-208.
Lilleri D, Gerna G, Zelini P, Chiesa A, Rognoni V, Mastronuzzi Angela, Giorgiani G, Zecca M, Locatelli
Franco. Monitoring of human cytomegalovirus and virus-specific T-cell response in young patients receiving
allogeneic hematopoietic stem cell transplantation. Plos One 2012 (7):e41648.
Lin Y, Stephenson MC, Xin L, Napolitano Antonio, Morris PG. Investigating the metabolic changes due to
visual stimulation using functional proton magnetic resonance spectroscopy at 7 T. Journal of Cerebral
Blood Flow and Metabolism 2012 (32):1484-1495.
Liu M, Lara-Lemus R, Shan S, Wright J, Haataja L, Barbetti Fabrizio, Guo H, Larkin D, Arvan P. Impaired
cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes. Diabetes 2012 (61):828837.
Lo A,Baird R,De Angelis Paola,Levesque D,Morinville V,Federici di Abriola Giovanni,Caldaro Tamara,
Laberge JM, Dall'Oglio Luigi. Arterio-esophageal fistula after stenting for esophageal atresia. Journal of
Pediatric Gastroenterology and Nutrition 2012 (Epub, DOI 10.1097/MPG.0b013e31824ffd7f).
Lo Castro A, Brancati F, Digilio Maria Cristina, Garaci FG, Bollero P, Alfieri Paolo, Curatolo P.
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. American Journal
of Medical Genetics Part B-Neuropsychiatric Genetics 2012 (Epub, DOI 10.1002/ajmg.b.32113).
Locatelli Franco, Lucarelli Barbarella. Treatment of disease recurrence after allogeneic hematopoietic stem
cell transplantation in children with juvenile myelomonocytic leukemia: A great challenge still to be won.
Pediatric Blood & Cancer 2012 (Epub, DOI 10.1002/pbc.24294).
Locatelli Franco, Pagliara Daria. Allogeneic hematopoietic stem cell transplantation in children with sickle
cell disease. Pediatric Blood & Cancer 2012 (59):372-376.
Locatelli Franco, Schrappe M, Bernardo Maria Ester, Rutella Sergio. How I treat relapsed childhood acute
lymphoblastic leukemia. Blood 2012 (120):2807-2816.
Lopezherce J, Del Castillo J, Matamoros M, Canadas S, Rodriguezcalvo A, Cecchetti Corrado,
Rodrigueznunez A, Alvarez A. Factors associated with mortality in pediatric in-hospital cardiac arrest: a
prospective multicenter multinational observational study. Intensive Care Medicine 2012 (Epub, DOI
10.1007/s00134-012-2709-7).
Lorenzi Silvia, Forloni Matteo, Cifaldi Loredana, Antonucci Chiara, Citti Arianna, Boldrini Renata, Pezzullo
Marco, Castellano Aurora, Russo V, van der Bruggen P, Giacomini P, Locatelli Franco, Fruci Doriana. IRF1
and NF-kB restore MHC class I-restricted tumor antigen processing and presentation to cytotoxic T cells in
aggressive neuroblastoma. Plos One 2012 (7):e46928- .
Lubrano R, Cecchetti Corrado, Bellelli E, Gentile I, Levano H.L, Orsini F, Bertazzoni G, Messi G, Rugolotto
S, Pirozzi Nicola, Elli M. Comparison of times of intervention during pediatric CPR maneuvers using ABC
and CAB sequences: A randomized trial. Resuscitation 2012 (83):1473-1477.
Lubrano R, Tancredi G, Bellelli E, Gentile I, Scateni Simona, Masciangelo R, De Castro G, Versacci Paolo,
Elli M. Influence of physical activity on cardiorespiratory fitness in children after renal transplantation.
Nephrology Dialysis Transplantation 2012 (27):1677-1681.
Macchiaiolo Marina, Gagliardi Maria Giulia, Toscano Alessandra, Guccione Paolo, Bartuli Andrea.
Homozygous familial hypercholesterolaemia. Lancet 2012 (379):1330.
Magnasco A, Ravani P, Edefonti A, Murer L, Ghio L, Belingheri M, Benetti E, Murtas C, Messina G,
Massella Laura, Porcellini MG, Montagna M, Regazzi M, Scolari F, Ghiggeri GM. Rituximab in children
with resistant idiopathic nephrotic syndrome. Journal of the American Society of Nephrology 2012
(23):1117-1124.
Magni-Manzoni Silvia, Scirè CA, Ravelli A, Klersy C, Rossi S, Muratore V, Visconti C, Lanni S, Merli P,
Montecucco C. Ultrasound-detected synovial abnormalities are frequent in clinically inactive juvenile
idiopathic arthritis, but do not predict a flare of synovitis. Annals of the Rheumatic Diseases 2012 (Epub,
DOI 10.1136/annrheumdis-2011-201264).
Malattia C, Damasio MB, Basso C, Santoro M, Verri A, Pederzoli S, Mattiuz C, Viola S, Buoncompagni A,
Madeo A, Mazzoni M, Rosendahl K, Lambot Juhan K, Tanturri de Horatio Laura, Magnano G.M, Ravelli A,
Martini A. Novel automated system for magnetic resonance imaging quantification of the inflamed synovial
membrane volume in patients with juvenile idiopathic arthritis. Arthritis Care & Research 2012 (64):16571664.
Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini Enrico Silvio, Aiello Chiara, Lucchini C, Gatti RA,
Brussino A, Brusco A. Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a
homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense
morpholino oligonucleotide. Neurogenetics 2012 (13):205-214.
Manco Melania, Dallapiccola Bruno. Genetics of Pediatric Obesity. Pediatrics 2012 (130):123-133.
Manco Melania, Fernandez-Real JM. Back to past leeches: repeated phlebotomies and cardiovascular risk.
BMC Medicine 2012 (10):53.
Manco Melania, Lo Zupone Cristina, Alghisi Federico, D'Andrea Maria Luisa, Lucidi Vincenzina, Monti
Lidia. Pilot study on the use of acoustic radiation force impulse imaging in the staging of cystic fibrosis
associated liver disease. Journal of Cystic Fibrosis 2012 (11):427-432.
Manco Melania, Miraglia Del Giudice E, Spreghini Maria Rita, Cappa Marco, Perrone L, Brufani Claudia,
Rustico Carmela, Morino Giuseppe, Caprio S. 1-Hour plasma glucose in obese youth. Acta Diabetologica
2012 (500):22-27.
Manco Melania, Morandi A, Marigliano M, Rigotti F, Manfredi R, Maffeis C. Epicardial fat, abdominal
adiposity and insulin resistance in obese pre-pubertal and early pubertal children. Atherosclerosis 2012
(Epub, DOI 10.1016/j.atherosclerosis.2012.11.023).
Manco Melania. Gut microbiota and developmental programming of the brain: from evidence in behavioral
endophenotypes to novel perspective in obesity. Frontiers in Cellular and Infection Microbiology 2012
(2):109.
Mancuso M, Angelini C, Bertini Enrico Silvio, Carelli V, Comi GP, Minetti C, Moggio MG, Mongini T,
Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G. Fatigue and exercise intolerance in
mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
Neuromuscular Disorders 2012 (22):s226-s229.
Marangi G, Orteschi D, Vigevano Federico, Felie J, Walsh CA, Manzini MC, Neri G. Expanding the
spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13
deletion. American Journal of Medical Genetics Part A 2012 (158A):888-893.
Dentici Maria Lisa, Tarani L, Digilio Maria Cristina, Mingarelli Rita, Baban Anwar, Zampino G, Romagnoli
C, De Curtis M, Dallapiccola Bruno. RDDR: a dysmorphology diagnostic network for newborns in central
Italy. The Journal of Maternal-Fetal & Neonatal Medicine 2012 (25 Suppl 4):121-123.
Marini C, Darra F, Specchio Nicola, Mei D, Terracciano Alessandra, Parmeggiani L, Ferrari A, Sicca F,
Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano
T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai Raffaella, Vigevano Federico, Bernardina BD,
Guerrini R. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Epilepsia 2012 (53):2111-2119.
Marletta C, Valli R, Pressato B, Mare L, Montalbano G, Menna G, Loffredo G, Bernardo Maria Ester, Vinti
Luciana, Ferrari S, Di Cesare-Merlone A, Zecca M, Lo Curto F, Locatelli Franco, Pasquali F, Maserati E.
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and
peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes. Molecular
Cytogenetics 2012 (5):39.
Marsella Pasquale, Scorpecci Alessandro, D'Eredita R, Della Volpe A, Malerba P. Stability of
osseointegrated bone conduction systems in children: a pilot study. Otology & Neurotology 2012 (33):797803.
Martinelli Diego, Catteruccia Michela, Piemonte Fiorella, Pastore Anna, Tozzi Giulia, Dionisi Vici Carlo,
Pontrelli Giuseppe, Corsetti Tiziana, Livadiotti Susanna, Kheifets V, Hinman A, Shrader WD, Thoolen M,
Klein MB, Bertini Enrico Silvio, Miller G. EPI-743 reverses the progression of the pediatric mitochondrial
disease-genetically defined Leigh Syndrome. Molecular Genetics and Metabolism 2012 (107):383-388.
Masotti Andrea, Alisi Anna. Integrated bioinformatics analysis of microRNA expression profiles for an indepth understanding of pathogenic mechanisms in non-alcoholic fatty liver disease. Journal of
Gastroenterology and Hepatology 2012 (27):187-188.
Masotti Andrea. Interplays between gut microbiota and gene expression regulation by miRNAs. Frontiers in
Cellular and Infection Microbiology 2012 (2):137.
Matteucci Maria Chiara, Chinali Marcello, Rinelli Gabriele, Wuhl E, Zurowska A, Charbit M, Pongiglione
Giacomo, Schaefer F, the ESCAPE Trial Group. Change in cardiac geometry and function in CKD children
during strict BP control: a randomized study. Clinical Journal of the American Society of Nephrology 2012
(Epub, DOI 10.2215/CJN.08420811).
Matusali Giulia, Pacciani Valentina, Angelini F, Moschese V, Chini L, Doria Margherita. Plasma levels of
soluble MICA and ULBP2 are increased in children allergic to dust mites. The Journal of Allergy and
Clinical Immunology 2012 (130):1003-1005.
Matusali Giulia, Potestà Marina, Santoni A, Cerboni C, Doria Margherita. The human immunodeficiency
virus type 1 Nef and Vpu proteins downregulate the natural killer cell-activating ligand PVR. Journal of
Virology 2012 (86):4496-4504.
Mazwi M, Brown D, Marshall A, Pigula F, Laussen P, Polito Angelo, Wypij D, Costello J. Unplanned
reinterventions are associated with postoperative mortality in neonates with critical congenital heart disease.
Journal of Thoracic and Cardiovascular Surgery 2012 (Epub, DOI 10.1016/j.jtcvs.2012.03.078).
Mazzone Luigi, Armando Marco, De Crescenzo F, Demaria F, Valeri G, Vicari Stefano. Clinical picture and
treatment implication in a child with Capgras syndrome: a case report. Journal of Medical Case Reports
2012 (6):406.
Mazzone Luigi, Ruta L, Reale L. Psychiatric comorbidities in asperger syndrome and high functioning
autism: diagnostic challenges. Annals of General Psychiatry 2012 (11):16.
Mazzone Luigi, Vassena L, Ruta Liliana, Mugno Diego, Galesi O, Fichera M. Brief report: peculiar
evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.
Journal of Autism and Developmental Disorders 2012 (42):2202-2207.
Mazzone P, Insola A, Valeriani Massimiliano, Caliandro P, Sposato S, Scarnati E. Uncertainty,
misunderstanding and the pedunculopontine nucleus: the exhumation of an already buried dispute. Acta
Neurochirurgica 2012 (154):1527-1529.
Meazza C, Albertini R, Pagani S, Sessa N, Laarej K, Falcone R, Bozzola Elena, Calcaterra V, Bozzola M.
Diagnosis of Growth Hormone Deficiency is Affected by Calibrators Used in GH Immunoassays. Hormone
and Metabolic Research 2012 (44):900-903.
Mercuri E, Bertini Enrico Silvio, Iannaccone ST. Childhood spinal muscular atrophy: controversies and
challenges. Lancet Neurology 2012 (11):443-452.
Mercuri E, Bertini Enrico Silvio. Stem cells in severe infantile spinal muscular atrophy. Neuromuscular
Disorders 2012 (22):1105.
Merli Laura, Crocoli Alessandro, Boldrini Renata, Inserra Alessandro. Solitary fibrous tumor of the pleura in
a 6-year-old boy. Journal of Pediatric Surgery 2012 (47):435-437.
Miano M, Pistorio A, Putti MC, Dufour C, Messina C, Barisone E, Ziino O, Parasole R, Luciani Matteo, Lo
Nigro L, De Rossi Giulio, Varotto S, Bertorello N, Petruzziello F, Calvillo M, Micalizzi C. Clofarabine,
cyclophosphamide and etoposide for the treatment of relapsed or resistant acute leukemia in pediatric
patients. Leukemia & Lymphoma 2012 (53):1693-1698.
Moavero R, Cusmai Raffaella, Specchio Nicola, Fusco Lucia, Capuano Alessandro, Curatolo P, Vigevano
Federico. Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant
epilepsy: the first Italian prospective study. Epilepsy Research 2012 (102):94-99.
Monti Lidia, Manco Melania, Lo Zupone Cristina, Latini A, D'Andrea Maria Luisa, Alghisi Federico, Lucidi
Vincenzina, Tomà Paolo, Bonomo L. Acoustic radiation force impulse (ARFI) imaging with Virtual Touch
Tissue Quantification in liver disease associated with cystic fibrosis in children. Radiologia Medica 2012
(117):1408-1418.
Montuschi P, Paris D, Melck D, Lucidi Vincenzina, Ciabattoni G, Raia V, Calabrese C, Bush A, Barnes PJ,
Motta A. NMR spectroscopy metabolomic profiling of exhaled breath condensate in patients with stable and
unstable cystic fibrosis. Thorax 2012 (67):222-228.
Morimoto M, Kerouredan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M,
Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, DeHaai KA, Fenkci MS, Frange P, Fruend S,
Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella Laura, McLeod D.R, Milford
DV, Nobili F, Olney A.H, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Luecke T, Hendson G,
Bonnaure-Mallet M, Boerkoel CF. Dental abnormalities in Schimke immuno-osseous dysplasia. Journal of
Dental Research 2012 (91):S29-S37.
Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley
AK, Parham DM, Ponniah U, Andre JL, Asakura Y, Basiratnia M, Bogdanovic R, Bokenkamp A, Bonneau
D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkci MS, Frange P, Fruend S, Fryssira H,
Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella Laura,
McLeod DR, Milford DV, Nobili F, Saraiva J.M, Semerci C.N, Shoemaker L, Stajic N, Stein A, Taha D,
Wand D, Zonana J, Luecke T, Boerkoel C.F. Reduced elastogenesis: a clue to the arteriosclerosis and
emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet Journal of Rare Diseases 2012
(7):70-70.
Morini Francesco, Bagolan Pietro. Surgical techniques in congenital diaphragmatic hernia. European
Journal of Pediatric Surgery 2012 (22):355-363.
Murgia F, Cotognini C, Montemitro Enza, Cilli M , Renzetti E, Lucidi Vincenzina, Bella Sergio. Evaluation
of compliance to telehomecare (THC) in a group of patients with Cystic Fibrosis (CF) in a period of 2 years.
Clinica Terapeutica 2012 (163):E111-E114.
Nalesso F, Ricci Zaccaria, Ronco C. Management of acute renal dysfunction in sepsis. Current Infectious
Disease Reports 2012 (14):462-473.
Napolitano Antonio, Kockenberger W, Auer DP. Reliable gamma aminobutyric acid measurement using
optimized PRESS at 3 T. Magnetic Resonance in Medicine 2012 (Epub, DOI 10.1002/mrm.24397).
Necchi V, Minelli A, Sommi P, Vitali A, Caruso Roberta, Longoni D, Frau MR, Nasi C, De Gregorio F,
Zecca M, Ricci V, Danesino C, Solcia E. Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of
patients with Shwachman-Diamond syndrome. Haematologica-The Hematology Journal 2012 (97):10571063.
Negrini S, Aulisa Angelo Gabriele, Aulisa L, Circo A, De Mauroy J, Durmala J, Grivas T, Knott P, Kotwicki
T, Maruyama T, Minozzi S, Obrien J, Papadopoulos D, Rigo M, Rivard C, Romano M, Wynne J, Villagrasa
M, Zaina F. 2011 SOSORT guidelines: Orthopaedic and Rehabilitation treatment of idiopathic scoliosis
during growth. Scoliosis 2012 (Epub, DOI 10.1186/1748-7161-7-3).
Nel E, Sokol R J, Comparcola Donatella, Nobili Valerio, Hardikar W, Gana JC, Abarca K, Wu J F, Chang
MH, Renner JK. Viral Hepatitis in Children. Journal of Pediatric Gastroenterology and Nutrition 2012
(55):500-505.
Nistico L, Iafusco D, Galderisi A, Fagnani C, Cotichini R, Toccaceli V, Stazi M, Lorini R, D'annunzio G,
Scaramuzza A, Zuccotti G, Chiumello G, Meschi F, Bonfanti R, Franzese A, Buono P, De Simone I, Prisco
F, Cocca A, Calcaterra V, Cappa Marco, Patera Ippolita Patrizia, Schiaffini Riccardo, Sulli N, Spoletini M,
Tonini G. Emerging effects of early environmental factors over genetic background for type 1 diabetes
susceptibility: Evidence from a nationwide Italian twin study. Journal of Clinical Endocrinology and
Metabolism 2012 (Epub, DOI 10.1210/jc.2011-3457).
Nobili Valerio, Alisi Anna, Della Corte Claudia, Rise P, Galli C, Agostoni C, Bedogni G. Docosahexaenoic
acid for the treatment of fatty liver: Randomised controlled trial in children. Nutrition Metabolism and
Cardiovascular Diseases 2012 (Epub, DOI 10.1016/j.numecd.2012.10.010).
Nobili Valerio, Bedogni G, Berni Canani R, Brambilla P, Cianfarani Stefano, Pietrobelli A, Agostoni C. The
potential role of fatty liver in paediatric metabolic syndrome: a distinct phenotype with high metabolic risk?
International Journal of Pediatric Obesity 2012 (7):e75-e80.
Nobili Valerio, Carpino G, Alisi Anna, Franchitto A, Alpini G, De Vito Rita, Onori P, Alvaro D, Gaudio E.
Hepatic progenitor cells activation, fibrosis and adipokines production in pediatric nonalcoholic fatty liver
disease. Hepatology 2012 (56):2142-2153.
Nobili Valerio, Giorgio Valentina, Pongiglione Giacomo. Circulating biomarkers for metabolic disorders as
a predictor of cardiovascular disease risk: what's new? Biomarkers in Medicine 2012 (6):715-718.
Nobili Valerio, Svegliati-Baroni G, Alisi Anna, Miele L, Valenti L, Vajro P. A 360-degree overview of
paediatric NAFLD: Recent insights. Journal of Hepatology 2012 (Epub, DOI 10.1016/j.jhep.2012.12.003).
Nobili Valerio. Metabolic disorders: all that we know from circulating biomarkers. Biomarkers in Medicine
2012 (6):707-709.
Nobili Valerio, Siotto M, Bedogni G, Ravà Lucilla, Pietrobattista Andrea, Panera Nadia, Alisi Anna, Squitti
R. Levels of serum ceruloplasmin associate with pediatric nonalcoholic Fatty liver disease. Journal of
Pediatric Gastroenterology and Nutrition 2012 (Epub, DOI 10.1097/MPG.0b013e31827aced4).
Nocchi Federico, Gazzellini Simone, Grisolia Carmela, Petrarca Maurizio, Cannatà Vittorio, Cappa Paolo,
D'Alessio T, Castelli Enrico. Brain network involved in visual processing of movement stimuli used in upper
limb robotic training: an fMRI study. Journal of Neuroengineering and Rehabilitation 2012 (9):49.
Noce A, Ferrannini M, Fabrini R, Bocedi A, Dessi M, Galli F, Federici Giorgio, Palumbo R, Di Daniele N,
Ricci G. Erythrocyte glutathione transferase: a new biomarker for hemodialysis adequacy, overcoming the
Kt/V-urea dogma? Cell Death & Disease 2012 (3):e377-e377.
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo
V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci Carlo, Dragani A, Albano V,
Jankovic M, Scianguetta S, Savoia A, Balduini CL. Clinical and laboratory features of 103 patients from 42
Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb
alpha (Bolzano mutation). Haematologica-The Hematology Journal 2012 (97):82-88.
Ogier de Baulny H, Schiff M, Dionisi Vici Carlo. Lysinuric protein intolerance (LPI): A multi organ disease
by far more complex than a classic urea cycle disorder. Molecular Genetics and Metabolism 2012 (106):1217.
Orrù S, Orrù N, Manolakos E, Littera R, Caocci G, Giorgiani G, Bertaina Alice, Pagliara Daria, Giardini C,
Nesci S, Locatelli Franco, Carcassi C, La Nasa G. Recipient CTLA-4*CT60-AA genotype is a prognostic
factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia. Human
Immunology 2012 (73):282-286.
Pacciani Valentina, Corrente Stefania, Gregori S, Pierantozzi A, Silenzi R, Chianca M, Moschese V, Chini
L, Angelini F. Correlation of Der p 2 T-cell responses with clinical characteristics of children allergic to
house dust mite. Annals of Allergy, Asthma & Immunology 2012 (109):442-447.
Padalino MA, Vida VL, Boccuzzo G, Tonello M, Sarris GE, Berggren H, Comas JV, Di Carlo Duccio, Di
Donato Roberto Maria, Ebels T, Hraska V, Jacobs JP, Gaynor JW, Metras D, Pretre R, Pozzi M, Rubay J,
Sairanen H, Schreiber C, Maruszewski B, Basso C, Stellin G. Surgery for primary cardiac tumors in
children: early and late results in a multicenter European Congenital Heart Surgeons Association study.
Circulation 2012 (126):22-30.
Pagliara Daria, Savoldo B. Cytotoxic T lymphocytes for the treatment of viral infections and posttransplant
lymphoproliferative disorders in transplant recipients. Current Opinion in infectious Diseases 2012 (25):431437.
Pallas-Alonso C.R, Losacco Valentina, Maraschini Alice, Greisen G, Pierrat V, Warren I, Haumont D,
Westrup B, Smit BJ, Sizun J, Cuttini Marina, for the European Science Foundation Network. Parental
involvement and kangaroo care in European neonatal intensive care units: a policy survey in eight countries.
Pediatric Critical Care Medicine 2012 (13):568-577.
Pallotta N, Vincoli G, Montesani C, Chirletti P, Pronio A, Caronna R, Ciccantelli B, Romeo Erminia
Francesca, Marcheggiano A, Corazziari E. Small intestine contrast ultrasonography (SICUS) for the
detection of small bowel complications in crohn's disease: a prospective comparative study versus
intraoperative findings. Inflammatory Bowel Diseases 2012 (18):74-84.
Palma Paolo, Romiti ML, Bernardi Stefania, Pontrelli Giuseppe, Mora N, Santilli V, Tchidjou Hyppolite
Kuekou, Aquilani A, Cotugno N, Alghisi Federico, Lucidi Vincenzina, Rossi Paolo, Douagi I. Safety and
immunogenicity of a monovalent MF59((R))-adjuvanted A/H1N1 vaccine in HIV-infected children and
young adults. Biologicals 2012 (40):134-139.
Palmieri Giancarlo, Bianciardi Valassina Maria Francesca, Proia Giorgio, El Hachem May Chebl, Callea
Francesco, Zama Mario. Impressive pseudotumoral proliferative nodules in a giant congenital nevus of a
newborn. Pediatric Dermatology 2012 (Epub, DOI 10.1111/j.1525-1470.2012.01845.x).
Pandolfi Elisabetta, Marino Maria Giulia, Carloni Emanuela, Romano Mariateresa, Gesualdo Francesco,
Borgia P, Carloni R, Guarino A, Giannattasio A, Tozzi Alberto Eugenio. The effect of physician's
recommendation on seasonal influenza immunization in children with chronic diseases. BMC Public Health
2012 (12):984.
Pane M, Lombardo ME, Alfieri Paolo, D'Amico Adele, Bianco F, Vasco G, Piccini Giorgia, Mallardi M,
Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari Stefano, Bertini Enrico Silvio, Berardinelli A, Mercuri
E. Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy:
phenotype-genotype correlation. The Journal of Pediatrics 2012 (161):705-709.e1.
Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico Adele, Bianco F,
Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi
G, Santorelli FM, Bertini Enrico Silvio, Muntoni F, Mercuri E. Respiratory and cardiac function in
congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders 2012
(22):685-689.
Panera Nadia, Ceccarelli Sara, De Stefanis Cristiano, Nobili Valerio, Alisi Anna. Retinoids counteract
insulin resistance and liver steatosis: What's the potential mechanism? Hepatology. 2012 (Epub, DOI
10.1002/hep.26213).
Panetta Fabio, Ferretti Francesca, Diamanti Antonella. Positive serum IgA-tissue-transglutaminase
antibodies are not all but enough to diagnose coeliac disease without a small bowel biopsy. Journal of
Crohns & Colitis 2012 (6):804-805.
Panetta Fabio, Nobili Valerio, Sartorelli Maria Rita, Papa Raffaele Edo, Ferretti Francesca, Alterio Arianna,
Diamanti Antonella. Celiac disease in pediatric patients with autoimmune hepatitis: etiology, diagnosis, and
management. Pediatric Drugs 2012 (14):35-41.
Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia
B, Simonati A, Bertini Enrico Silvio, Nardocci N, Tiranti V. C19orf12 and FA2H mutations are rare in
Italian patients with neurodegeneration with brain iron accumulation. Seminars in Pediatric Neurology 2012
(19):75-81.
Paola Q, Paola S, Mareva G, Desiree C, Ilaria C, Daniela L, Stefania V, Ippolita Rana, Angela A, Aldo M,
Maria L, Paolo P, Saverio L, Elisa R, Carlo D, Elio C. Epidemiology of infections in children with acquired
aplastic anaemia: a retrospective multicenter study in Italy. European Journal of Haematology 2012
(88):526-534.
Pascali Maria Paola, De Gennaro Mario, Mosiello Giovanni. Re: Intra-detrusor botulinum neuro-toxin a
(bont-a) injections decrease bladder fibrosis secondary to partial urethral obstruction in the male rat model.
Neurourology and Urodynamics 2012 (31):571-571.
Pastore Anna, Di Giovamberardino Gianna, Petrillo Sara, Boenzi Sara, Bertini Enrico Silvio, Dionisi Vici
Carlo, Piemonte Fiorella. Pediatric reference intervals for muscle coenzyme Q10. Biomarkers 2012 (17):764766.
Pastore Anna, Piemonte Fiorella. S-Glutathionylation signaling in cell biology: progress and prospects.
European Journal of Pharmaceutical Sciences 2012 (46):279-292.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, on behalf of the NP-C
Guidelines Working Group (including Dionisi Vici Carlo). Recommendations for the diagnosis and
management of Niemann-Pick disease type C: an update.. Molecular Genetics and Metabolism 2012
(1606):330-344.
Pavone Martino, Salerno Teresa, Cambiaso Paola, Verrillo Elisabetta, Rossi Francesco Paolo, Cutrera
Renato. Continuous positive pressure non-invasive ventilation for the management of obstructive sleep
apnoea in a 15-year-old girl with polycystic ovary syndrome. Journal of Paediatrics and Child Health 2012
(48):E194-E195.
Pazzaglia S, Cifaldi Loredana, Saran A, Nobili Valerio, Fruci Doriana, Alisi Anna. Hedgehog/hyaluronic
acid interaction network in nonalcoholic fatty liver disease, fibrosis, and hepatocellular carcinoma.
Hepatology 2012 (56):1589-1589.
Pellegrino Katia, D'Urbano Leila Emma, Artesani Maria Cristina, Riccardi Carla, Mancini Sandro, Bella
Sergio, Alghisi Federico, Cavagni Giovanni. Severe reaction in a child with asymptomatic codfish allergy:
food challenge reactivating recurrent pancreatitis. Italian Journal of Pediatrics 2012 (38):16.
Perri G, Polito Angelo, Esposito Claudia, Albanese Sonia Bernadette, Francalanci Paola, Pongiglione
Giacomo, Carotti Adriano. Early and late failure of tissue-engineered pulmonary valve conduits used for
right ventricular outflow tract reconstruction in patients with congenital heart disease. European Journal of
Cardio-Thoracic Surgery 2012 (41):1320-1325.
Peruzzi Barbara, Cappariello Alfredo, Del Fattore Andrea, Rucci N, De Benedetti Fabrizio, Teti A. c-Src and
IL-6 inhibit osteoblast differentiation and integrate IGFBP5 signalling. Nature Communications 2012
(3):630.
Petrarca Maurizio, Cappa Paolo, Zanelli G, Armando Marco,Castelli Enrico,Berthoz A. Spatial rotational
orientation ability in standing children with cerebral palsy. Gait & Posture 2012 (Epub, DOI
10.1016/j.gaitpost.2012.08.022).
Petrini Stefania, Passarelli Chiara, Pastore Anna, Tozzi Giulia, Coccetti Marianna, Colucci Manuela, Bianchi
Marzia, Carrozzo Rosalba, Bertini Enrico Silvio, Piemonte Fiorella. Protein glutathionylation in cellular
compartments: A constitutive redox signal. Redox Report 2012 (17):63-71.
Petruzzella V, Carrozzo Rosalba, Calabrese C, Dell'Aglio R, Trentadue R, Piredda R, Artuso L, Rizza
Teresa, Bianchi Marzia, Porcelli AM, Guerriero S, Gasparre G, Attimonelli M. Deep sequencing unearths
Nuclear mitochondrial Sequences under Lebers hereditary optic neuropathy-associated false heteroplasmic
mitochondrial DNA variants. Human Molecular Genetics 2012 (21):3753-3764.
Picardi E, Gallo Angela, Galeano Federica, Tomaselli Sara, Pesole G. A novel computational strategy to
identify A-to-I RNA editing sites by RNA-Seq data: de novo detection in human spinal cord tissue. Plos One
2012 (7):e44184-e44184.
Piersigilli Fiammetta, Catena Gino, Rossi De Gasperis Marco, Lozzi Simona, Auriti Cinzia. Active retinitis
in an infant with postnatally acquired cytomegalovirus infection. Journal of Perinatology 2012 (32):559-562.
Pigazzi M, Manara E, Bisio V, Aveic S, Masetti R, Menna G, Zecca M, Pession A, Locatelli Franco, Basso
G. Screening of novel genetic aberrations in pediatric acute myeloid leukemia: a report from the AIEOP
AML-2002 study group. Blood 2012 (120):3860-3862.
Pigazzi M, Masetti R, Martinolli F, Manara E, Beghin A, Rondelli R, Locatelli Franco, Fagioli F, Pession A,
Basso G. Presence of high-ERG expression is an independent unfavorable prognostic marker in MLLrearranged childhood myeloid leukemia. Blood 2012 (119):1086-1087.
Pillon M, Gregucci F, Lombardi Alessandra, Santoro N, Piglione M, Sala A, D'Amore ESG, De Santis R,
Casale F, Zecca M, Mussolin L, Rosolen A, On behalf of the NHL-Committee of the Italian Association of
Pediatric Hematology and Oncology. Results of AIEOP LNH-97 protocol for the treatment of anaplastic
large cell lymphoma of childhood. Pediatric Blood & Cancer 2012 (59):828-833.
Pironi L, Goulet O, Buchman A, Messing B, Gabe S, Candusso Manila, Bond G, Gupte G, Pertkiewicz M,
Steiger E, Forbes A, Van Gossum A, Pinna AD, Home Artificial Nutrition and Chronic Intestinal Failure
Working Group of ESPEN. Outcome on home parenteral nutrition for benign intestinal failure: a review of
the literature and benchmarking with the European prospective survey of ESPEN. Clinical Nutrition 2012
(31):831-845.
Placidi E, Marciani L, Hoad CL, Napolitano Antonio, Garsed KC, Pritchard SE, Cox EF, Costigan C, Spiller
RC, Gowland PA. The effects of loperamide, or loperamide plus simethicone, on the distribution of gut
water as assessed by MRI in a mannitol model of secretory diarrhoea. Alimentary Pharmacology &
Therapeutics 2012 (36):64-73.
Pompilio A, Crocetta V, Scocchi M, Pomponio S, Di Vincenzo V, Mardirossian M, Gherardi G, Fiscarelli
Ersilia, Dicuonzo G, Gennaro R, Di Bonaventura G. Potential novel therapeutic strategies in cystic fibrosis:
antimicrobial and anti-biofilm activity of natural and designed alpha-helical peptides against Staphylococcus
aureus, Pseudomonas aeruginosa, and Stenotrophomonas maltophilia. BMC Microbiology 2012 (12):145.
Pontrelli Giuseppe, Cotugno Nicola, Amodio Donato, Zangari Paola, Tchidjou Hyppolite Kuekou,
Baldassari Stefania, Palma Paolo, Bernardi Stefania. Renal function in HIV-infected children and
adolescents treated with tenofovir disoproxil fumarate and protease inhibitors. BMC Infectious Diseases
2012 (12):18.
Poretti A, Vitiello G, Hennekam R.C, Arrigoni F, Bertini Enrico Silvio, Borgatti R, Brancati F, D'Arrigo S,
Faravelli F, Giordano L, Huisman T.A, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM,
Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare
Diseases 2012 (7):4.
Prencipe Giusi, Azzari C, Moriondo M, De Vito Rita, Inglese Rita, Pezzullo Marco, Piersigilli Fiammetta,
Trucchi Alessandro, De Benedetti Fabrizio, Auriti Cinzia. Association between mannose-binding lectin gene
polymorphisms and necrotizing enterocolitis in preterm infants. Journal of Pediatric Gastroenterology and
Nutrition 2012 (55):160-165.
Procino G, Mastrofrancesco L, Tamma G, Lasorsa DR, Ranieri M, Stringini G, Emma Francesco, Svelto M,
Valenti G. Calcium-sensing receptor and aquaporin 2 interplay in hypercalciuria-associated renal
concentrating defect in humans. An in vivo and in vitro study. Plos One 2012 (7):e33145.
Prudente S, Dallapiccola Bruno, Pellegrini F, Doria A, Trischitta V. Genetic prediction of common diseases.
Still no help for the clinical diabetologist! Nutrition Metabolism and Cardiovascular Diseases 2012
(22):929-936.
Putignani Lorenza, Raffa S, Pescosolido R, Rizza Teresa, Del Chierico Federica, Leone L, Aimati L, Signore
F, Carrozzo Rosalba, Callea Francesco, Torrisi MR, Grammatico P. Preliminary evidences on mitochondrial
injury and impaired oxidative metabolism in breast cancer. Mitochondrion 2012 (12):363-369.
Putignani Lorenza. Human gut microbiota: onset and shaping through life stages and perturbations. Frontiers
in Cellular and Infection Microbiology 2012 (2):144.
Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti Luciana, Dianzani I, Ramenghi U.
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by
multiplex ligation-dependent probe amplification assay. Haematologica 2012 (97):1813-1817.
Quattrocchi CC, Longo Daniela, Nogueira Delfino Luciana, Errante Yuri, Aiello Costanza, Fariello
Giuseppe, Bernardi Bruno. MR differential diagnosis of acute deep grey matter pathology in paediatric
patients. Pediatric Radiology 2012 (Epub, DOI 10.1007/s00247-012-2491-2).
Quattrocchi CC, Zanni Ginevra, Napolitano Antonio, Longo Daniela, Cordelli DM, Barresi Sabina, Randisi
Francesco, Valente EM, Verdolotti Tommaso, Genovese Elisabetta, Specchio Nicola, Vitiello G, Spiegel R,
Bertini Enrico Silvio, Bernardi Bruno. Conventional magnetic resonance imaging and diffusion tensor
imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like
phenotype. Neurogenetics 2012 (Epub, DOI 10.1007/s10048-012-0352-7).
Ricci Zaccaria, Garisto Cristiana, Favia Isabella, Vitale Vincenzo, Di Chiara Luca, Cogo Paola.
Levosimendan infusion in newborns after corrective surgery for congenital heart disease: randomized
controlled trial. Intensive Care Medicine 2012 (38):1198-1204.
Ricci Zaccaria, Morelli Stefano, Favia Isabella, Garisto Cristiana, Brancaccio Gianluca, Picardo Sergio.
Neutrophil gelatinase-associated lipocalin levels during extracorporeal membrane oxygenation in critically
ill children with congenital heart disease: Preliminary experience. Pediatric Critical Care Medicine 2012
(13):E51-E54.
Ricci Zaccaria, Netto Roberta, Garisto Cristiana, Iacoella Claudia, Favia Isabella ,Cogo Paola. Whole blood
assessment of neutrophil gelatinase-associated lipocalin versus pRIFLE for acute kidney injury diagnosis and
prognosis after pediatric cardiac surgery: cross-sectional study. Pediatric Critical Care Medicine 2012
(13):667-670.
Ricci Zaccaria, Ronco C. New insights in acute kidney failure in the critically ill. Swiss Medical Weekly
2012 (Epub, DOI 10.4414/smw.2012.13662, 10.4414/smw.2012.13662).
Ricci Zaccaria, Ronco C. Renal replacement therapy in the critically ill: getting it right. Current Opinion in
Critical Care 2012 (18):607-612.
Ricci Zaccaria. RIFLE is alive: long live RIFLE. Critical Care 2012 (16):182.
Rice G.I, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS,
Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini Enrico Silvio, Brogan PA, Brueton
LA, Carpanelli M, De Laet C, de Lonlay P, Del Toro M, Desguerre I, Fazzi E, Garcia Cazorla A, Heiberg A,
Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques WJr, Mignot C, Olivieri I, Orcesi S,
Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe
WG, Vanderver A, Vassallo G, Wakeling E.L, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T,
McLaughlin PJ, Keegan LP, O'Connell M.A, Lovell SC, Crow YJ. Mutations in ADAR1 cause AicardiGoutieres syndrome associated with a type I interferon signature. Nature Genetics 2012 (44):1243-1248.
Rigante D, Cantarini L, Piastra M, Angelone D, Valentini P, Pardeo Manuela, Buonsenso D, Delogu A,
Serranti D, De Nisco A, Compagnone A, De Rosa G. Kawasaki syndrome and concurrent Coxsackie virus
B3 infection. Rheumatology International 2012 (32):4037-4040.
Romagnoli C, Riccardi R, Purcaro V, Villani Alberto, Delogu G, Zuppa AA. Neonatal tuberculosis: an
experience that teaches. Journal of Maternal-Fetal & Neonatal Medicine 2012 (25):38-41.
Romagnoli S, Ricci Zaccaria, Pinelli F, Stefano P, Rossi A, Bevilacqua S. Spinal cord injury after ascending
aorta and aortic arch replacement combined with antegrade stent grafting: role of postoperative cerebrospinal
fluid drainage. Journal of Cardiac Surgery 2012 (27):224-227.
Romagnoli S, Ricci Zaccaria, Raffaele De Gaudio A. Invasive arterial pressure: test it before believing in!
Pediatric Critical Care Medicine 2012 (13):248.
Romania Paolo, Bertaina Alice, Bracaglia Giorgia, Locatelli Franco, Fruci Doriana, Rota Rossella.
Epigenetic deregulation of microRNAs in rhabdomyosarcoma and neuroblastoma and translational
perspectives. International Journal of Molecular Sciences 2012 (13):16554-16579.
Romano Mariateresa, Gesualdo Francesco, Pandolfi Elisabetta, Tozzi Alberto Eugenio, Ugazio Alberto
Giovanni. Use of the Internet by Italian pediatricians: habits, impact on clinical practice and expectations.
BMC Medical Informatics and Decision Making 2012 (12):23.
Romano Mariateresa, Pandolfi Elisabetta, Marino Maria Giulia, Gesualdo Francesco, Rizzo C, Carloni
Emanuela, Macchiaiolo Marina,Tozzi Alberto Eugenio. Seasonal and pandemic influenza vaccine:
recommendations to families of at-risk children during the 2009-10 season. European Journal of Public
Health 2012 (22):821-824.
Romeo Erminia Francesca, Jasonni V, Caldaro Tamara, Barabino A, Mattioli G, Vignola S, Federici di
Abriola Giovanni, De Angelis Paola, Pane Alessandro, Torroni Filippo, Rea Francesca, Dall'Oglio Luigi.
Strictureplasty and intestinal resection: different options in complicated pediatric-onset Crohn disease.
Journal of Pediatric Surgery 2012 (47):944-948.
Ronco C, Garzotto F, Ricci Zaccaria. CA.R.PE.DI.E.M. (Cardio-Renal Pediatric Dialysis Emergency
Machine): evolution of continuous renal replacement therapies in infants. A personal journey. Pediatric
Nephrology 2012 (27):1203-1211.
Rosati Paola, Porzsolt F. A practical educational tool for teaching child-care hospital professionals attending
evidence-based practice courses for continuing medical education to appraise internal validity in systematic
reviews. Journal of Evaluation in Clinical Practice 2012 (Epub, DOI 10.1111/j.1365-2753.2012.01889.x).
Rossetti Emanuele, Bianchi Roberto, Chiusolo Fabrizio, Onofri Alfredo, Picardo Sergio. Extracorporeal
membrane oxygenation in a 10-year-old girl with macrophage activation syndrome. Paediatric Anaesthesia
2012 (22):937-938.
Rossi F, Bellini G, Alisi Anna, Alterio Arianna, Maione S, Perrone L, Locatelli Franco, Del Giudice EM,
Nobili Valerio. Cannabinoid receptor type 2 functional variant influences liver damage in children with nonalcoholic Fatty liver disease. Plos One 2012 (7):e42259.
Rota Rossella, Ciarapica Roberta, Miele L, Locatelli Franco. Notch signaling in pediatric soft tissue
sarcomas. BMC Medicine 2012 (10):141.
Ruggeri A, Michel G, Dalle JH, Caniglia Maurizio, Locatelli Franco, Campos A, de Heredia CD, Mohty M,
Hurtado JMP, Bierings M, Bittencourt H, Mauad M, Purtill D, Cunha R, Kabbara N, Gluckman E, Labopin
M, Peters C, Rocha V. Impact of pretransplant minimal residual disease after cord blood transplantation for
childhood acute lymphoblastic leukemia in remission: an Eurocord, PDWP-EBMT analysis. Leukemia 2012
(26):2455-2461.
Russo Lucia, Marsella C, Nardo G, Massignan T, Alessio M, Piermarini E, La Rosa S, Finzi G, Bonetto V,
Bertuzzi F, Maechler P, Massa Ornella. Transglutaminase 2 transamidation activity during first-phase insulin
secretion: natural substrates in INS-1E. Acta Diabetologica 2012 (Epub, DOI 10.1007/s00592-012-0381-6).
Rutella Sergio, Iudicone P, Bonanno G, Fioravanti D, Procoli A, Lavorino C, Foddai ML, Lorusso D,
Martinelli E, Vacca M, Ipsevich F, Nuti M, Scambia G, Pierelli L. Adoptive immunotherapy with cytokineinduced killer cells generated with a new good manufacturing practice-grade protocol. Cytotherapy 2012
(14):841-850.
Rutella Sergio, Locatelli Franco. Is there a role for cytokine-induced killer cells in cancer immunotherapy?
Immunotherapy 2012 (4):867-869.
Rutella Sergio, Locatelli Franco. Targeting multiple-myeloma-induced immune dysfunction to improve
immunotherapy outcomes. Clinical & Developmental Immunology 2012 (2012):196063.
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi Vici Carlo, Fung CW, Sturiale L,
Rosnoblet C, Foulquier F, Matthijs G, Jaeken J. COG5-CDG: expanding the clinical spectrum. Orphanet
Journal of Rare Diseases 2012 (7):94.
Salardi S, Porta M, Maltoni G, Rubbi F, Rovere S, Cerutti F, Iafusco D, Tumini S, Cauvin V, Cadario F,
D'Annunzio G, Salvatoni A, Schiaffini Riccardo, Toni S, Zedda M. Infant and toddler type 1 diabetes:
complications after 20 years' duration. Diabetes Care 2012 (35):829-833.
Salerno Teresa, Peca Donatella, Rossi Francesco Paolo, Menchini Laura, Danhaive Olivier, Cutrera Renato.
Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation. Acta
Paediatrica 2012 (Epub, DOI 10.1111/apa.12043).
Salvatoni A, Berini J, Chiumello G, Crinò Antonino, Di Candia S, Gargantini L, Grugni G, Iughetti L, Luce
A, Musolino G, Sogno Valin P, Spica Russotto V, Trifiro G, ISPED. POI: a score to modulate GH treatment
in children with Prader-Willi syndrome. Hormone Research in Paediatrics 2012 (78):201-202.
Salvatore D, Buzzetti R, Baldo E, Furnari ML, Lucidi Vincenzina, Manunza D, Marinelli I, Messore B, Neri
A.S, Raia V, Mastella G. An overview of international literature from cystic fibrosis registries. Part 4:
Update 2011. Journal of Cystic Fibrosis 2012 (11):480-493.
Sau A, Filomeni G, Pezzola S, D'Aguanno S, Tregno FP, Urbani A, Serra M, Pasello M, Picci P, Federici
Giorgio, Caccuri AM. Targeting GSTP1-1 induces JNK activation and leads to apoptosis in cisplatinsensitive and -resistant human osteosarcoma cell lines. Molecular Biosystems 2012 (8):994-1006.
Scatena M, Dittoni S, Maviglia R, Frusciante R, Testani E, Vollono Catello, Losurdo A, Colicchio S, Gnoni
V, Labriola C, Farina B, Pennisi M.A, Della Marca G. An integrated video-analysis software system
designed for movement detection and sleep analysis. Validation of a tool for the behavioural study of sleep.
Clinical Neurophysiology 2012 (123):318-323.
Scerpa Maria Cristina, Daniele Nicola, Ciammetti Chiara, Rossi Cecilia, Sodani P, Lanti A, Lucarelli G,
Isacchi Giancarlo, Zinno Francesco. Cell processing for haplo-identical hematopoietic stem cell
transplantation: automated washing and immunomagnetic-positive selection. Cytotherapy 2012 (14):811817.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla
Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat Rott K, Antonnen AK, Kurlemann G, Lehesjoki AE,
Lehmann-Horn F, Mastrangelo M, Mause U, Muller S, Neubauer B, Pust B, Rating D, Robbiano A, Ruf S,
Schroeder C, Seidel A, Specchio Nicola, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano
Federico, Viri M, Bauer P, Zara F, Lerche H, Weber YG. PRRT2 mutations are the major cause of benign
familial infantile seizures (BFIS). Human Mutation 2012 (33):1439-1443.
Sergi M, Montesano C, Napoletano S, Pizzoni D, Manetti C, Colistro Franco, Curini R, Compagnone D.
Analysis of bile acids profile in human serum by ultrafiltration clean-up and LC-MS/MS. Chromatographia
2012 (75):479-489.
Sevilla J, Schiavello E, Madero L, Pardeo Manuela, Guggiari E, Baragano M, Luksch R, Massimino M.
Priming of hematopoietic progenitor cells by plerixafor and filgrastim in children with previous failure of
mobilization with chemotherapy and/or cytokine treatment. Journal of Pediatric Hematology/Oncology 2012
(34):146-150.
Sheth J, Sharif K, Lloyd C, Gupte G, Kelly D, De Ville de Goyet Jean, Millar A, Mirza D, Chardot C. Staged
abdominal closure after small bowel or multivisceral transplantation. Pediatric Transplantation 2012
(16):36-40.
Silvetti Massimo Stefano, Drago Fabrizio, Ravà Lucilla. Long-term outcome of transvenous bipolar atrial
leads implanted in children and young adults with congenital heart disease. Europace 2012 (14):1002-1007.
Simonato M, Baritussio A, Vedovelli L, Lamonica G, Carnielli VP, Cogo Paola. Surfactant Protein B
amount and kinetics in newborn infants: an optimized procedure. Journal of Mass Spectrometry 2012
(47):1415-1419.
Simone R, Tenca C, Fais F, Luciani Matteo, De Rossi G, Pesce G, Bagnasco M, Saverino D. A soluble form
of CTLA-4 is present in paediatric patients with acute lymphoblastic leukaemia and correlates with CD1d+
expression. Plos One 2012 (7):e44654-e44654.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR,
Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Celik FC, Aygun C, Coward R, Dionisi Vici
Carlo, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely A.S, Watson SP, Gissen P. Associations
among genotype, clinical phenotype and intracellular localization of trafficking proteins in ARC syndrome.
Human Mutation 2012 (33):1656-1664.
Sparaci L, Stefanini S, Marotta Luigi, Vicari Stefano,RizzolattiG. Understanding motor acts and motor
intentions in Williams syndrome. Neuropsychologia 2012 (50):1639-1649.
Specchio Nicola, Terracciano Alessandra, Trivisano M, Cappelletti Simona, Claps Daniela, Travaglini
Lorena, Cusmai Raffaella, Marras Carlo Efisio, Zara F, Fusco Lucia, Bertini Enrico Silvio, Vigevano
Federico. PRRT2 is mutated in familial and non-familial benign infantile seizures. European Journal of
Paediatric Neurology 2012 (Epub, DOI 10.1016/j.ejpn.2012.07.006).
Specchio Nicola, Trivisano M, Bernardi Bruno, Marras Carlo Efisio, Faggioli R, Fiumana E, Cappelletti
Simona, Delalande Olivier, Vigevano Federico, Fusco Lucia. Neonatal hemifacial spasm and fourth ventricle
mass. Developmental Medicine and Child Neurology 2012 (54):697-703.
Specchio Nicola, Trivisano M, Serino Domenico, Cappelletti Simona, Carotenuto A, Claps Daniela, Marras
Carlo Efisio, Fusco Lucia, Elia M, Vigevano Federico. Epilepsy in ring 14 chromosome syndrome. Epilepsy
& Behavior 2012 (25):585-592.
Spina V, Giovannini M, Fabiani C, Vetrano G, Bagolan Pietro, Colizza S, Aleandri V. Postpartum
complications in a patient with a previous proctocolectomy and ileo-pouch-anal anastomosis (IPAA) for
ulcerative colitis. Journal of Prenatal Medicine 2012 (6):31-33.
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli Diego, van Berkel CG, Bley A, Diogo L, Grillo E,
Te Water Naude J, Strom TM, Bertini Enrico Silvio, Prokisch H, van der Knaap M.S, Zeviani M.
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2
mutations. Brain 2012 (135):1387-1394.
Straface E, Marchesi Alessandra, Gambardella L, Metere A, Tarissi de Jacobis Isabella, Viora M, Giordani
L, Villani Alberto, Del Principe D, Malorni W, Pietraforte D. Does oxidative stress play a critical role in
cardiovascular complications of Kawasaki disease? Antioxidants & Redox Signaling 2012 (17):1441-1446.
Strauss K, Vicari Stefano, Valeri Giovanni, D'Elia Lidia, Arima S, Fava L. Parent inclusion in Early
Intensive Behavioral Intervention: the influence of parental stress, parent treatment fidelity and parentmediated generalization of behavior targets on child outcomes. Research in Developmental Disabilities 2012
(33):688-703.
Strippoli Raffaele, Benedicto I, Perez Lozano ML, Pellinen T, Sandoval P, Lopez-Cabrera M, Angel del
Pozo M. Inhibition of transforming growth factor-activated kinase 1 (TAK1) blocks and reverses epithelial to
mesenchymal transition of mesothelial cells. Plos One 2012 (7):e31492-e31492.
Strobelt H, Bertini Enrico Silvio, Braun J, Deussen O, Groth U, Mayer TU, Merhof D. HiTSEE KNIME: a
visualization tool for hit selection and analysis in high-throughput screening experiments for the KNIME
platform. BMC Bioinformatics 2012 (13 Suppl 8):S4.
Sukowati C, Rosso N, Pascut D, Anfuso B, Francalanci Paola, Croce L, Tiribelli C. Gene and functional upregulation of the BCRP/ABCG2 transporter in hepatocellular carcinoma. BMC Gastroenterology 2012
(12):160.
Surrenti Tiziana, Diociaiuti Andrea, Inserra Alessandro, Accinni Antonella, Giraldi Loredana, Callea
Francesco, El Hachem May Chebl. Melanoma in a 5-year-old child with a giant congenital melanocytic
naevus. Acta Dermato-Venereologica 2012 (92):607-608.
Tana MG, Bianchi AM, Sclocco R, Franchin Tiziana, Cerutti S, Leal A. Parcel-based connectivity analysis
of fMRI data for the study of epileptic seizure propagation. Brain Topography 2012 (25):345-361.
Tanturri de Horatio Laura, Damasio MB, Barbuti Domenico, Bracaglia Claudia, Lambot-Juhan K, Boavida
P, Ording Muller LS, Malattia C, Ravà Lucilla, Rosendahl K, Toma Paolo. MRI assessment of bone marrow
in children with juvenile idiopathic arthritis: intra- and inter-observer variability. Pediatric Radiology 2012
(42):714-720.
Taranta Anna, Bizzarri Carla, Masotti Andrea, Scire G, Pampanini V, Cappa Marco. A case of primary
selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene. Gene
2012 (500):22-27.
Taranta Anna, Petrini Stefania, Citti Arianna, Boldrini Renata, Corallini Serena, Bellomo Francesco,
Levtchenko E, Emma Francesco. Distribution of cystinosin-LKG in human tissues. Histochemistry and Cell
Biology 2012 (138):351-363.
Tasca G, Fattori Fabiana, Ricci E, Monforte M, Rizzo V, Mercuri E, Bertini Enrico Silvio, Silvestri G.
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures. Acta
Neuropathologica 2012 (Epub, DOI 10.1007/s00401-012-1049-6).
Tchidjou Hyppolite Kuekou, Maria Martino A, Goli LP, Diop Ly M, Zekeng L, Samba M, Maiolo S, Palma
Paolo, Pontrelli Giuseppe, Mancino G, Rossi Paolo, Colizzi V. Paediatric HIV infection in Western Africa:
the long way to the standard of care. Journal of Tropical Pediatrics 2012 (58):451-456.
Tchidjou Hyppolite Kuekou, Vescio F, Avellis L, Aquilani Angela, Santilli Veronica, Mora Nadia, Pontrelli
Giuseppe, Palma Paolo, Martino Alessandra Maria, Bernardi Stefania, Rossi Paolo, Rezza G. An atypical
case of multifocal infantile haemangioma in a child after Highly Active Antiretroviral Therapy (HAART)
during pregnancy. Clinical Neurology and Neurosurgery 2012 (114):1161-1163.
Terracciano Alessandra, Specchio Nicola, Darra F, Sferra Antonella, Bernardina BD, Vigevano Federico,
Bertini Enrico Silvio. Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
Neurogenetics 2012 (13):341-345.
Tinazzi M, Valeriani Massimiliano, Squintani G, Corrà F, Recchia S, Defazio G, Berardelli A. Nociceptive
pathway function is normal in cervical dystonia: a study using laser-evoked potentials. Journal of Neurology
2012 (259):2060-2066.
Tomaselli Sara, Panera Nadia, Gallo Angela, Alisi Anna. Circulating miRNA profiling to identify
biomarkers of dysmetabolism. Biomarkers in Medicine 2012 (6):729-742.
Tomasuolo E, Valeri Giovanni, Di Renzo A, Pasqualetti P, Volterra V. Deaf children attending different
school environments: sign language abilities and theory of mind. Journal of Deaf Studies and Deaf
Education 2012 (Epub, DOI 10.1093/deafed/ens035).
Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, De Benedetti Fabrizio, Neven B, Hofer M,
Dolezalova P, Kümmerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C,
Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M. An International registry
on Autoinflammatory diseases: the Eurofever experience. Annals of the Rheumatic Diseases 2012 (71):11771182.
Torraco Alessandra, Verrigni Daniela, Rizza Teresa, Meschini Maria Chiara, Vazquez-Memije M E,
Martinelli Diego, Bianchi Marzia, Piemonte Fiorella, Dionisi Vici Carlo, Santorelli FM, Bertini Enrico
Silvio, Carrozzo Rosalba. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal
role in complex V biogenesis. Neurogenetics 2012 (13):375-386.
Tortoli E, Russo Cristina, Piersimoni C, Mazzola E, Dal MP, Pascarella M, Borroni E, Mondo A, Piana F,
Scarparo C, Coltella L, Lombardi G, Cirillo DM. Clinical validation of Xpert MTB/RIF for the diagnosis of
extrapulmonary tuberculosis. European Respiratory Journal 2012 (40):442-447.
Tozzi Alberto Eugenio, Bisiacchi P, Tarantino V, Chiarotti F, D'Elia L, De Mei B, Romano Mariateresa,
Gesualdo Francesco, Salmaso S. Effect of duration of breastfeeding on neuropsychological development at
10 to 12 years of age in a cohort of healthy children. Developmental Medicine and Child Neurology 2012
(54):843-848.
Tozzi Alberto Eugenio, Mazzotti Eva, Di Ciommo Vincenzo Maria, Dello Strologo Luca, Cuttini Marina.
Quality of life in a cohort of patients diagnosed with renal failure in childhood and who received renal
transplant. Pediatric Transplantation 2012 (16):840-845.
Tridapalli E, Capretti M, Reggiani M, Stronati Mauro, Faldella G, Auriti Cinzia, Decembrino Lidia.
Congenital syphilis in Italy: a multicentre study. Archives of Disease in Childhood 2012 (97):F211-F2013.
Uboldi S, Bernasconi S, Romano M, Marchini S, Nerini IF, Damia G, Ganzinelli M, Marangon E, Sala F,
Clivio L, Chiorino G, Di Giandomenico S, Rocchi M, Capozzi O, Margison GP, Watson AJ, Caccuri AM,
Pastore Anna, Fossati A, Mantovani R, Grosso F, Tercero JC, Erba E, D'Incalci M. Characterization of a new
trabectedin-resistant myxoid liposarcoma cell line that shows collateral sensitivity to methylating agents.
International Journal of Cancer 2012 (131):59-69.
Vajro P, Lenta S, Socha P, Dhawan A, McKiernan P, Baumann U, Durmaz O, Lacaille F, Mc LinV, Nobili
Valerio. Diagnosis of nonalcoholic fatty liver disease in children and adolescents: position paper of the
ESPGHAN Hepatology Committee. Journal of Pediatric Gastroenterology and Nutrition 2012 (54):700713.
Vajro P, Paolella G, Nobili Valerio. Children unresponsive to hepatitis B virus vaccination also need celiac
disease testing. Journal of Pediatric Gastroenterology and Nutrition 2012 (55):e131.
Valenti L, Alisi Anna, Nobili Valerio. Unraveling the genetics of fatty liver in obese children: Additive
effect of P446L GCKR and I148M PNPLA3 polymorphisms. Hepatology 2012 (55):661-663.
Valeriani Massimiliano, Pazzaglia C, Cruccu G, Truini A. Clinical usefulness of laser evoked potentials.
Clinical Neurophysiology 2012 (42):345-353.
Vernocchi Pamela, Vannini L, Gottardi D, Del Chierico Federica, Serrazanetti D I, Ndagijimana M,
Guerzoni ME. Integration of datasets from different analytical techniques to assess the impact of nutrition on
human metabolome. Frontiers in Cellular and Infection Microbiology 2012 (2):156.
Verrillo Elisabetta, Bizzarri Carla, Bruni O, Ferri R, Pavone Martino, Cappa Marco, Cutrera Renato. Effects
of replacement therapy on sleep architecture in children with growth hormone deficiency. Sleep Medicine
2012 (13):496-502.
Verrotti A, Matricardi S, Capovilla G, Degidio C, Cusmai Raffaella, Romeo A, Pruna D, Pavone P,
Cappanera S, Granata T, Gobbi G, Striano P, Grosso S, Parisi P, Franzoni E, Striano S, Spalice A, Marino R,
Vigevano Federico, Coppola G. Reflex myoclonic epilepsy in infancy: a multicenter clinical study. Epilepsy
Research 2012 (Epub, DOI 10.1016/j.eplepsyres.2012.07.004).
Vidal E, Edefonti A, Murer L, Gianoglio B, Maringhini S, Pecoraro C, Sorino P, Leozappa Giovanna,
Lavoratti G, Ratsch IM, Chimenz R, Verrina E, Italian Registry Paediat Chronic Diseases. Peritoneal dialysis
in infants: the experience of the Italian Registry of Paediatric Chronic Dialysis. Nephrology Dialysis
Transplantation 2012 (27):388-395.
Virgone C, Cecchetto G, Ferrari A, Bisogno G, Donofrio V, Boldrini Renata, Collini P, Dall'igna P, Alaggio
R. GATA-4 and FOG-2 expression in pediatric ovarian sex cord-stromal tumors replicates embryonal
gonadal phenotype: results from the TREP project. Plos One 2012 (7):e45914.
Vivarelli Marina, Pasini A, Emma Francesco. Eculizumab for the treatment of dense-deposit disease. The
New England Journal of Medicine 2012 (366):1163-1165.
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M,
Amburgey K, Apkon S, Bertini Enrico Silvio, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud
B, Fitzgerald D, Florence JM, Gee R, Gurgel-Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H,
Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K,
Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies. Journal of Child
Neurology 2012 (27):363-382.
Zaffina Salvatore, Camisa Vincenzo, Lembo Marco, Vinci Maria Rosaria, Tucci Mario Graziano, Borra
Massimo, Napolitano Antonio, Cannatà Vittorio. Accidental exposure to UV radiation produced by
germicidal lamp: case report and risk assessment. Photochemistry and Photobiology 2012 (88):1001-1004.
Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi Vici Carlo, Agolini E, Wischmeijer A,
Morava E, Novelli G, Häberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous
autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of
Medical Genetics Part A 2012 (158A):927-931.
Zanni Ginevra, Cali T, Kalscheuer VM, Ottolini D, Barresi Sabina, Lebrun N, Montecchi Palazzi L, Hu H,
Chelly J, Bertini Enrico Silvio, Brini M, Carafoli E. Mutation of plasma membrane Ca2+ ATPase isoform 3
in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the
National Academy of Sciences of the United States of America 2012 (109):14514-14519.
Zannin ME, Birolo C, Gerloni VM, Miserocchi E, Pontikaki I, Paroli MP, Bracaglia Claudia, Shardlow A,
Parentin F, Cimaz R, Simonini G, Falcini F, Corona F, Viola S, De Marco R, Breda L, La Torre F, Vittadello
F, Martini G, Zulian F. Safety and efficacy of infliximab and adalimumab for refractory uveitis in juvenile
idiopathic arthritis: 1-year followup data from the Italian Registry. The Journal of Rheumatology 2012
(Epub, DOI 10.3899/jrheum.120583).
Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V,
Finocchi Andrea, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L. A
randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Movement
Disorders 2012 (27):1312-1316.
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini Enrico Silvio,
Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Spinal
muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
American Journal of Human Genetics 2012 (91):5-14.
Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori Guglielmo, Guaraldi F,
Duse M. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case
report and literature review of the disease clinical, genetic and radiological features. Italian Journal of
Pediatrics 2012 (38):27-27.
Zorzoli A, Di Carlo E, Cocco C, Ognio E, Ribatti D, Ferretti E, Dufour C, Locatelli Franco, Montagna D,
Airoldi I. Interleukin-27 Inhibits the Growth of Pediatric Acute Myeloid Leukemia in NOD/SCID/Il2rg-/Mice. Clinical Cancer Research 2012 (18):1630-1640.