Publications - Page 16 of 29 - ERN ITHACA

Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant

Mastrogiorgio G, Buonuomo PS, Rana I, Macchiaiolo M, Marchetti P, de Peppo F, Rinelli M, Gonfiantini MV, Novelli A, Bartuli A

Archives of disease in childhood. 2020 Jun 23
Genetics of atrioventricular canal defects

Pugnaloni F, Digilio MC, Putotto C, de Luca E, Marino B, Versacci P

Italian journal of pediatrics. 2020 May 13;46(1):61
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers

Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P

International journal of pediatric otorhinolaryngology. 2020 Feb;129:109790
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar A v, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin J-R, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio F di, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS

Molecular psychiatry. 2021;26(8):4496–510
Dissecting the mechanisms of bone loss in Gorham-Stout disease

Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D’Agostini M, Macchiaiolo M, de Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, del Fattore A

Bone. 2020;130:115068
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association

Macchiaiolo M, Markowich AH, Diociaiuti A, Gonfiantini M v, Buonuomo PS, Rana I, Monti L, el Hachem M, Bartuli A

American journal of medical genetics Part A. 2020;182(8):1972–6
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

Baban A, Olivini N, Cantarutti N, Calì F, Vitello C, Valentini D, Adorisio R, Calcagni G, Alesi V, di Mambro C, Villani A, Dallapiccola B, Digilio MC, Marino B, Carotti A, Drago F

American journal of medical genetics Part A. 2020;182(6):1342–50
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Trivisano M, Rivera M, Terracciano A, Ciolfi A, Napolitano A, Pepi C, Calabrese C, Digilio MC, Tartaglia M, Curatolo P, Vigevano F, Specchio N

Epilepsy & behavior : E&B. 2020;108:107097
Defining language disorders in children and adolescents with Noonan Syndrome

Lazzaro G, Caciolo C, Menghini D, Cumbo F, Digilio MC, Capolino R, Zampino G, Tartaglia M, Vicari S, Alfieri P

Molecular genetics & genomic medicine. 2020;8(4):e1069
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M

BMC pediatrics. 2020;20(1):120