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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC, García-Montaño LA, Cruz-Aguilar M, Ronquillo J, Rodas-Serrano A, Aguilar-Castul L, Matsui R, Vencedor-Meraz CI, Arce-González R, Graue-Wiechers F, Gutiérrez-Paz M, Urrea-Victoria T, de Dios Cuadras U, Chacón-Camacho OF. Zenteno JC, et al. Among authors: arce gonzalez r. Mol Genet Genomic Med. 2020 Jan;8(1):10.1002/mgg3.1044. doi: 10.1002/mgg3.1044. Epub 2019 Nov 17. Mol Genet Genomic Med. 2020. PMID: 31736247 Free PMC article.
Newborn transient patterned hyperpigmentation and anophthalmia.
Chacón Camacho OF, Arce-González R, Rodríguez Uribe G. Chacón Camacho OF, et al. Among authors: arce gonzalez r. Bol Med Hosp Infant Mex. 2020;77(3):146-148. doi: 10.24875/BMHIM.19000191. Bol Med Hosp Infant Mex. 2020. PMID: 32496470 English.
Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.
Villafuerte-De la Cruz R, Chacon-Camacho OF, Rodriguez-Martinez AC, Xilotl-De Jesus N, Arce-Gonzalez R, Rodriguez-De la Torre C, Valdez-Garcia JE, Rojas-Martinez A, Zenteno JC. Villafuerte-De la Cruz R, et al. Among authors: arce gonzalez r. Front Genet. 2022 Aug 16;13:949437. doi: 10.3389/fgene.2022.949437. eCollection 2022. Front Genet. 2022. PMID: 36051698 Free PMC article.
14 results