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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Serey-Gaut M, Scala M, Reversade B, Ruaud L, Cabrol C, Musacchia F, Torella A, Accogli A, Escande-Beillard N, Langlais J, Piatelli G, Consales A, Nigro V, Capra V, Van Maldergem L. Serey-Gaut M, et al. Among authors: capra v. Am J Med Genet A. 2020 Jun;182(6):1466-1472. doi: 10.1002/ajmg.a.61549. Epub 2020 Mar 25. Am J Med Genet A. 2020. PMID: 32212228
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
FZD6 is a novel gene for human neural tube defects.
De Marco P, Merello E, Rossi A, Piatelli G, Cama A, Kibar Z, Capra V. De Marco P, et al. Among authors: capra v. Hum Mutat. 2012 Feb;33(2):384-90. doi: 10.1002/humu.21643. Epub 2011 Nov 28. Hum Mutat. 2012. PMID: 22045688 Free PMC article.
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
251 results