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Page 1
CFC syndrome: report on three additional cases.
Sorge G, Di Forti F, Scarano G, Ventruto V, Zelante L, Dallapiccola B. Sorge G, et al. Am J Med Genet. 1989 Aug;33(4):476-8. doi: 10.1002/ajmg.1320330412. Am J Med Genet. 1989. PMID: 2596507
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: sorge g. 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.
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: sorge g. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391
Pallister-Killian syndrome: case report with pineal tumor.
Mauceri L, Sorge G, Incorpora G, Pavone L. Mauceri L, et al. Among authors: sorge g. Am J Med Genet. 2000 Nov 6;95(1):75-8. doi: 10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j. Am J Med Genet. 2000. PMID: 11074499
Spondyloperipheral dysplasia.
Sorge G, Ruggieri M, Lachman RS. Sorge G, et al. Am J Med Genet. 1995 Nov 6;59(2):139-42. doi: 10.1002/ajmg.1320590204. Am J Med Genet. 1995. PMID: 8588574
115 results