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Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R, González-Del Angel A, Velázquez-Aragón JA, Cordero-Guzmán LM, Muñoz-Hernández SE, Alcántara-Ortigoza MA. Rius R, et al. Neurol India. 2018 Jul-Aug;66(4):1162-1165. doi: 10.4103/0028-3886.236987. Neurol India. 2018. PMID: 30038111 Free article. No abstract available.
Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
Alcántara-Ortigoza MA, González-del Angel A, Barrientos-Ríos R, Cupples C, Garrido-García LM, de León-Bojorge B, Alva-Chaire Adel C. Alcántara-Ortigoza MA, et al. J Child Neurol. 2010 Aug;25(8):1034-7. doi: 10.1177/0883073809356035. Epub 2010 Mar 29. J Child Neurol. 2010. PMID: 20350966
Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos.
Velázquez-Aragón JA, Alcántara-Ortigoza MA, Estandia-Ortega B, Reyna-Fabián ME, Cruz-Fuentes C, Villagómez S, González-del Angel A. Velázquez-Aragón JA, et al. Am J Med Genet A. 2012 Dec;158A(12):3207-10. doi: 10.1002/ajmg.a.35641. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169698 No abstract available.
78 results