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Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.
Ibarra-González I, Campos-Garcia FJ, Herrera-Pérez LDA, Martínez-Cruz P, Moreno-Graciano CM, Contreras-Capetillo SN, León-Burgos V, Maldonado-Solis FA, Alcántara-Ortigoza MA, González Del Angel A, Vela-Amieva M. Ibarra-González I, et al. J Med Screen. 2018 Sep;25(3):119-125. doi: 10.1177/0969141317722808. Epub 2017 Oct 9. J Med Screen. 2018. PMID: 28992757
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
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.
Alcántara-Ortigoza MA, González-del Angel A, Martínez-Cruz V, Vela-Amieva M, Sánchez-Pérez C, Moreno-Rojas R, Estandía-Ortega B, Hernández-Martínez N. Alcántara-Ortigoza MA, et al. Clin Endocrinol (Oxf). 2012 Jan;76(1):148-50. doi: 10.1111/j.1365-2265.2011.04153.x. Clin Endocrinol (Oxf). 2012. PMID: 21689132 No abstract available.
65 results