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Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L, Reyna-Fabián ME, Alcántara-Ortigoza MA, Aláez-Verson C, Flores-Lagunes LL, Carrillo-Sánchez K, González-Del Angel A. Fernández-Hernández L, et al. Among authors: reyna fabian me. Diagnostics (Basel). 2022 May 19;12(5):1268. doi: 10.3390/diagnostics12051268. Diagnostics (Basel). 2022. PMID: 35626423 Free PMC article.
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Alcántara-Ortigoza MA, De Rubens-Figueroa J, Reyna-Fabian ME, Estandía-Ortega B, González-del Angel A, Molina-Álvarez B, Velázquez-Aragón JA, Villagómez-Martínez S, Pereira-López GI, Martínez-Cruz V, Álvarez-Gómez RM, Díaz-García L. Alcántara-Ortigoza MA, et al. Pediatr Cardiol. 2015 Apr;36(4):802-8. doi: 10.1007/s00246-014-1091-3. Epub 2014 Dec 19. Pediatr Cardiol. 2015. PMID: 25524324
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M. Alcántara-Ortigoza MA, et al. Among authors: reyna fabian me. Genes (Basel). 2019 Oct 29;10(11):856. doi: 10.3390/genes10110856. Genes (Basel). 2019. PMID: 31671740 Free PMC article.
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. 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. Sci Rep. 2020 Apr 20;10(1):6589. doi: 10.1038/s41598-020-62759-5. Sci Rep. 2020. PMID: 32313033 Free PMC article.
15 results