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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
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.
The administration of food supplemented with cocoa powder during nutritional recovery reduces damage caused by oxidative stress in rat brain.
Barragán Mejía G, Calderón Guzmán D, Juárez Olguín H, Hernández Martínez N, García Cruz E, Morales Ramírez A, Labra Ruiz N, Esquivel Jiménez G, Osnaya Brizuela N, García Álvarez R, Ontiveros Mendoza E. Barragán Mejía G, et al. Naunyn Schmiedebergs Arch Pharmacol. 2011 Dec;384(6):499-504. doi: 10.1007/s00210-011-0676-0. Epub 2011 Aug 9. Naunyn Schmiedebergs Arch Pharmacol. 2011. PMID: 21826449
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