Capra V - Search Results

1

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Cataldi M, Nobili L, Zara F, Combi R, Prato G, Giacomini T, Capra V, De Marco P, Ferini-Strambi L, Mancardi MM. Cataldi M, et al. Among authors: capra v. Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7. Seizure. 2019. PMID: 30903923 Free article. No abstract available.

2

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.

De Marco P, Calevo MG, Moroni A, Arata L, Merello E, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V. De Marco P, et al. Among authors: capra v. J Hum Genet. 2002;47(6):319-24. doi: 10.1007/s100380200043. J Hum Genet. 2002. PMID: 12111380

3

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.

De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V. De Marco P, et al. Among authors: capra v. J Hum Genet. 2006;51(2):98-103. doi: 10.1007/s10038-005-0329-6. Epub 2005 Nov 29. J Hum Genet. 2006. PMID: 16315005

4

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.

De Marco P, Merello E, Mascelli S, Raso A, Santamaria A, Ottaviano C, Calevo MG, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2006 Feb;76(2):86-95. doi: 10.1002/bdra.20225. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16463413

5

HLXB9 homeobox gene and caudal regression syndrome.

Merello E, De Marco P, Mascelli S, Raso A, Calevo MG, Torre M, Cama A, Lerone M, Martucciello G, Capra V. Merello E, et al. Among authors: capra v. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):205-9. doi: 10.1002/bdra.20234. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16498628

6

Current perspectives on the genetic causes of neural tube defects.

De Marco P, Merello E, Mascelli S, Capra V. De Marco P, et al. Among authors: capra v. Neurogenetics. 2006 Nov;7(4):201-21. doi: 10.1007/s10048-006-0052-2. Epub 2006 Aug 29. Neurogenetics. 2006. PMID: 16941185 Review.

7

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

8

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.

Capra V, De Marco P, Merello E, Baffico AM, Baldi M, Divizia MT, Gimelli S, Mallet D, Raso A, Mascelli S, Tomà P, Rossi A, Pavanello M, Cama A, Magnani C. Capra V, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):17-22. doi: 10.1016/j.ejmg.2008.10.005. Epub 2008 Nov 6. Eur J Med Genet. 2009. PMID: 19022412

9

Human neural tube defects: genetic causes and prevention.

De Marco P, Merello E, Cama A, Kibar Z, Capra V. De Marco P, et al. Among authors: capra v. Biofactors. 2011 Jul-Aug;37(4):261-8. doi: 10.1002/biof.170. Epub 2011 Jun 14. Biofactors. 2011. PMID: 21674647 Review.

10

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G. De Marco P, et al. Among authors: capra v. Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25. Eur J Med Genet. 2011. PMID: 21708297

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