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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Among authors: capra v. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.
Fontaine-Farriaux craniosynostosis: second report in the literature.
Priolo M, De Toni T, Baffico M, Cama A, Seri M, Cusano R, Costabello L, Fondelli P, Capra V, Silengo M, Ravazzolo R, Lerone M. Priolo M, et al. Among authors: capra v. Am J Med Genet. 2001 May 1;100(3):214-8. Am J Med Genet. 2001. PMID: 11343306
No major role for the EMX2 gene in schizencephaly.
Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. Merello E, et al. Among authors: capra v. Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264. Am J Med Genet A. 2008. PMID: 18409201
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.
Mascelli S, Raso A, Biassoni R, Severino M, Sak K, Joost K, Milanaccio C, Barra S, Grillo-Ruggieri F, Vanni I, Consales A, Cama A, Capra V, Nozza P, Garrè ML. Mascelli S, et al. Among authors: capra v. J Neurooncol. 2012 Sep;109(3):477-84. doi: 10.1007/s11060-012-0925-1. Epub 2012 Jul 22. J Neurooncol. 2012. PMID: 22821382
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626
263 results