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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.
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
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M. Fernández-Lainez C, et al. Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21. Brain Dev. 2018. PMID: 29685341
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Ibarra-González I, Fernández-Lainez C, Alcántara-Ortigoza MA, González-Del Angel A, Fernández-Henández L, Guillén-López S, Belmont-Martínez L, López-Mejía L, Varela-Fascinetto G, Vela-Amieva M. Ibarra-González I, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e937. doi: 10.1002/mgg3.937. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568711 Free PMC article.
70 results