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Page 1
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G, Scala M, Severino M, Roberti R, Romano F, De Marco P, Iacomino M, Baldassari S, Uva P, Pavanello M, Gustincich S, Striano P, Zara F, Capra V. D'Onofrio G, et al. Among authors: capra v. Eur J Hum Genet. 2023 Jul;31(7):725-729. doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28. Eur J Hum Genet. 2023. PMID: 36977836 Free PMC article. No abstract available.
Folate pathway gene alterations in patients with neural tube defects.
De Marco P, Moroni A, Merello E, de Franchis R, Andreussi L, Finnell RH, Barber RC, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Am J Med Genet. 2000 Nov 27;95(3):216-23. doi: 10.1002/1096-8628(20001127)95:3<216::aid-ajmg6>3.0.co;2-f. Am J Med Genet. 2000. PMID: 11102926
Reduced folate carrier polymorphism (80A-->G) and neural tube defects.
De Marco P, Calevo MG, Moroni A, Merello E, Raso A, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Eur J Hum Genet. 2003 Mar;11(3):245-52. doi: 10.1038/sj.ejhg.5200946. Eur J Hum Genet. 2003. PMID: 12673279
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
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
261 results