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Page 1
Low bone mineral density and renal malformation in Mexican patients with Turner syndrome are associated with single nucleotide variants in vitamin D-metabolism genes.
Barrientos-Rios R, Frias S, Velázquez-Aragón JA, Villaroel CE, Sánchez S, Molina B, Martínez A, Carnevale A, García-de-Teresa B, Bonilla E, Alvarado-Araiza CD, Valderrama-Hernández A, Ríos-Gallardo PT, Calzada-León R, Altamirano-Bustamante N, Torres L. Barrientos-Rios R, et al. Among authors: velazquez aragon ja. Gynecol Endocrinol. 2019 Sep;35(9):772-776. doi: 10.1080/09513590.2019.1582626. Epub 2019 Mar 19. Gynecol Endocrinol. 2019. PMID: 30887870 Free 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
Variants in ARID5B gene are associated with the development of acute lymphoblastic leukemia in Mexican children.
Reyes-León A, Ramírez-Martínez M, Fernández-García D, Amaro-Muñoz D, Velázquez-Aragón JA, Salas-Labadía C, Zapata-Tarrés M, Velasco-Hidalgo L, López-Santiago N, López-Ruiz MI, Malavar-Guadarrama MA, Cárdenas-Cardós R, Paredes-Aguilera R, Rivera-Luna R, Dean M, Pérez-Vera P. Reyes-León A, et al. Among authors: velazquez aragon ja. Ann Hematol. 2019 Oct;98(10):2379-2388. doi: 10.1007/s00277-019-03730-x. Epub 2019 Jun 21. Ann Hematol. 2019. PMID: 31227872 Free PMC article. Clinical Trial.
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: velazquez aragon ja. Sci Rep. 2020 Apr 20;10(1):6589. doi: 10.1038/s41598-020-62759-5. Sci Rep. 2020. PMID: 32313033 Free PMC article.
Erratum to: 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 Oct;36(7):1551. doi: 10.1007/s00246-015-1226-1. Pediatr Cardiol. 2015. PMID: 26205256 No abstract available.
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R, González-Del Angel A, Velázquez-Aragón JA, Cordero-Guzmán LM, Muñoz-Hernández SE, Alcántara-Ortigoza MA. Rius R, et al. Neurol India. 2018 Jul-Aug;66(4):1162-1165. doi: 10.4103/0028-3886.236987. Neurol India. 2018. PMID: 30038111 Free article. No abstract available.
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