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Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Sánchez S, Juárez U, Domínguez J, Molina B, Barrientos R, Martínez-Hernández A, Carnevale A, Grether-González P, Mayen DG, Villarroel C, Lieberman E, Yokoyama E, Del Castillo V, Torres L, Frias S. Sánchez S, et al. Among authors: frias s. Mol Cytogenet. 2023 Jan 12;16(1):2. doi: 10.1186/s13039-022-00631-z. Mol Cytogenet. 2023. PMID: 36631885 Free PMC article.
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Yokoyama E, Smith-Pellegrin DL, Sánchez S, Molina B, Rodríguez A, Juárez R, Lieberman E, Avila S, Castrillo JL, Del Castillo V, Frías S. Yokoyama E, et al. Among authors: frias s. Mol Cytogenet. 2017 Nov 15;10:42. doi: 10.1186/s13039-017-0345-1. eCollection 2017. Mol Cytogenet. 2017. PMID: 29177010 Free PMC article.
Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
Yokoyama E, Villarroel CE, Del Castillo V, Torres L, Sánchez S, Molina B, Avila S, Castrillo JL, Navarrete-Meneses P, Frías S. Yokoyama E, et al. Among authors: frias s. Am J Med Genet A. 2014 Mar;164A(3):824-7. doi: 10.1002/ajmg.a.36347. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357343 No abstract available.
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: frias s. Gynecol Endocrinol. 2019 Sep;35(9):772-776. doi: 10.1080/09513590.2019.1582626. Epub 2019 Mar 19. Gynecol Endocrinol. 2019. PMID: 30887870
Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution.
Pérez-Vera P, Montero-Ruiz O, Frías S, Ulloa-Avilés V, Cárdenas-Cardós R, Paredes-Aguilera R, Rivera-Luna R, Carnevale A. Pérez-Vera P, et al. Among authors: frias s. Cancer Genet Cytogenet. 2005 Oct 15;162(2):140-5. doi: 10.1016/j.cancergencyto.2005.03.018. Cancer Genet Cytogenet. 2005. PMID: 16213362
110 results