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Page 1
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: fiumara a. 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.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Ricci E, Fetta A, Garavelli L, Caraffi S, Ivanovski I, Bonanni P, Accorsi P, Giordano L, Pantaleoni C, Romeo A, Arena A, Bonetti S, Boni A, Chiarello D, Di Pisa V, Epifanio R, Faravelli F, Finardi E, Fiumara A, Grioni D, Mammi I, Negrin S, Osanni E, Raviglione F, Rivieri F, Rizzi R, Savasta S, Tarani L, Zanotta N; Mowat Wilson Epilepsy Study Group; Dormi A, Vignoli A, Canevini M, Cordelli DM. Ricci E, et al. Among authors: fiumara a. Epilepsy Behav. 2021 Oct 4;124:108315. doi: 10.1016/j.yebeh.2021.108315. Online ahead of print. Epilepsy Behav. 2021. PMID: 34619538
Epilepsy in patients with Angelman syndrome.
Fiumara A, Pittalà A, Cocuzza M, Sorge G. Fiumara A, et al. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Ital J Pediatr. 2010. PMID: 20398390 Free PMC article. Review.
[Melnick-Needles syndrome. Report of a case].
Greco F, Mauceri L, Finocchiaro M, Fiumara A, Sorge G. Greco F, et al. Among authors: fiumara a. Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52. Pediatr Med Chir. 1998. PMID: 9706640 Italian.
188 results