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RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
Romanisio G, Chelleri C, Scala M, Piccolo G, Carlini B, Gatti L, Capra V, Zara F, Bersano A, Pavanello M, De Marco P, Diana MC. Romanisio G, et al. Among authors: de marco p. Mol Genet Genomic Med. 2021 Jun;9(6):e1669. doi: 10.1002/mgg3.1669. Epub 2021 May 3. Mol Genet Genomic Med. 2021. PMID: 33939317 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: de franchis r. 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
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: de marco p. 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: de marco p. 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
335 results