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Page 1
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.
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Reyna-Fabián ME, Alcántara-Ortigoza MA, Hernández-Martínez NL, Berumen J, Jiménez-García R, Gómez-Garza G, González-Del Angel A. Reyna-Fabián ME, et al. Among authors: hernandez martinez nl. Nefrologia (Engl Ed). 2020 Jan-Feb;40(1):91-98. doi: 10.1016/j.nefro.2019.03.003. Epub 2019 Jun 5. Nefrologia (Engl Ed). 2020. PMID: 31176519 Free article. English, Spanish.
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME, Hernández-Martínez NL, Alcántara-Ortigoza MA, Ayala-Sumuano JT, Enríquez-Flores S, Velázquez-Aragón JA, Varela-Echavarría A, Todd-Quiñones CG, González-Del Angel A. Reyna-Fabián ME, et al. Among authors: hernandez martinez nl. Sci Rep. 2020 Apr 20;10(1):6589. doi: 10.1038/s41598-020-62759-5. Sci Rep. 2020. PMID: 32313033 Free PMC article.
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Alcántara-Ortigoza MA, Sánchez-Verdiguel I, Fernández-Hernández L, Enríquez-Flores S, González-Núñez A, Hernández-Martínez NL, Sánchez C, González-Del Angel A. Alcántara-Ortigoza MA, et al. Among authors: hernandez martinez nl. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 Free PMC article.
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
Apam-Garduño D, Cazarín-Barrientos J, Hernández-Martínez NL, Reyna-Fabián ME, Magaña M, Alcántara-Ortigoza MA, González-Del Angel A, Rivera-Vega MR. Apam-Garduño D, et al. Among authors: hernandez martinez nl. J Cutan Pathol. 2023 Jun;50(6):481-486. doi: 10.1111/cup.14340. Epub 2022 Nov 23. J Cutan Pathol. 2023. PMID: 36229934
The effect of aspartame on rat brain xenobiotic-metabolizing enzymes.
Vences-Mejía A, Labra-Ruíz N, Hernández-Martínez N, Dorado-González V, Gómez-Garduño J, Pérez-López I, Nosti-Palacios R, Camacho Carranza R, Espinosa-Aguirre JJ. Vences-Mejía A, et al. Hum Exp Toxicol. 2006 Aug;25(8):453-9. doi: 10.1191/0960327106het646oa. Hum Exp Toxicol. 2006. PMID: 16937917
16 results