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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: cama a. 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
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: cama a. 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: cama a. 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: cama a. 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
361 results