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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: de brasi d, de maggio i. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Holt-Oram syndrome associated with anomalies of the feet.
Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M. Garavelli L, et al. Among authors: de brasi d. Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170. Am J Med Genet A. 2008. PMID: 18351627
Prenatal diagnosis of Fraser syndrome: a matter of life or death?
De Bernardo G, Giordano M, Di Toro A, Sordino D, De Brasi D. De Bernardo G, et al. Among authors: de brasi d. Ital J Pediatr. 2015 Nov 9;41:86. doi: 10.1186/s13052-015-0195-6. Ital J Pediatr. 2015. PMID: 26552811 Free PMC article.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Among authors: de brasi d. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
Systemic Cat-Scratch Disease: a "Troublesome" Diagnosis.
Sarno M, Rosanio FM, De Brasi D, Santoro C, Lo Vecchio A, Esposito F, Siani P, Vajro P, Mandato C. Sarno M, et al. Among authors: de brasi d. Pediatr Infect Dis J. 2021 Mar 1;40(3):e117-e119. doi: 10.1097/INF.0000000000002996. Pediatr Infect Dis J. 2021. PMID: 33230057
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P; Campania Rare Disease Network. Limongelli G, et al. J Public Health (Oxf). 2022 Aug 25;44(3):586-594. doi: 10.1093/pubmed/fdab137. J Public Health (Oxf). 2022. PMID: 33982102 Free PMC article.
Crohn-Like Colitis in a Young Boy With Hirschsprung Disease.
Verde A, Grammegna A, Petrone E, Mastrominico A, De Brasi D, Mandato C, Ranucci G, Sabbatino MS, Sibilio M, Quitadamo P. Verde A, et al. Among authors: de brasi d. Inflamm Bowel Dis. 2021 Aug 19;27(9):e112-e113. doi: 10.1093/ibd/izab101. Inflamm Bowel Dis. 2021. PMID: 34003268 No abstract available.
66 results