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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA, Garza-Garza LA, Garza-Leon M, Rodriguez-De la Torre C, Parra-Bernal C, Vazquez-Camas I, Ramos-Gonzalez D, Rangel-Padilla A, Espino Barros-Palau A, Nava-García J, Castillo-Velazquez J, Castillo-De Leon E, Del Valle-Penella A, Valdez-Garcia JE, Rojas-Martinez A. Villafuerte-de la Cruz RA, et al. BMC Ophthalmol. 2024 Feb 12;24(1):60. doi: 10.1186/s12886-023-03276-7. BMC Ophthalmol. 2024. PMID: 38347443 Free PMC article.
Novel RB1 germline mutation in a healthy man.
Ramos-Dávila EM, Garza-Garza LA, Villafuerte-de la Cruz R, Aguilar-Y-Mendez D, Morales-Garza HJ, Garza-Leon M, Ruiz-Lozano RE, Ancona-Lezama D. Ramos-Dávila EM, et al. Among authors: villafuerte de la cruz r. Ophthalmic Genet. 2022 Aug;43(4):561-566. doi: 10.1080/13816810.2022.2062390. Epub 2022 Apr 11. Ophthalmic Genet. 2022. PMID: 35410579
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.
Chacon-Camacho OF, Xilotl-de Jesús N, Calderón-Martínez E, Ordoñez-Labastida V, Neria-Gonzalez MI, Villafuerte-de la Cruz R, Martinez-Rojas A, Zenteno JC. Chacon-Camacho OF, et al. Among authors: villafuerte de la cruz r. Mol Genet Genomics. 2024 Aug 20;299(1):79. doi: 10.1007/s00438-024-02174-x. Mol Genet Genomics. 2024. PMID: 39162841 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
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. Front Genet. 2022 Aug 16;13:949437. doi: 10.3389/fgene.2022.949437. eCollection 2022. Front Genet. 2022. PMID: 36051698 Free PMC article.
Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.
Garza-Garza LA, Villarreal-Martinez P, Villafuerte-de la Cruz R, Garza-Leon M. Garza-Garza LA, et al. Among authors: villafuerte de la cruz r. Ophthalmic Genet. 2024 Apr;45(2):180-185. doi: 10.1080/13816810.2023.2245460. Epub 2023 Aug 24. Ophthalmic Genet. 2024. PMID: 37621118