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Mosaic cat eye syndrome in a child with unilateral iris coloboma.
Hernández-Medrano C, Hidalgo-Bravo A, Villanueva-Mendoza C, Bautista-Tirado T, Apam-Garduño D. Hernández-Medrano C, et al. Among authors: villanueva mendoza c. Ophthalmic Genet. 2021 Feb;42(1):84-87. doi: 10.1080/13816810.2020.1839918. Epub 2020 Dec 1. Ophthalmic Genet. 2021. PMID: 33465332
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia.
Apam-Garduño D, Cortés-González V, Quintana-Fernández L, Martínez-Anaya D, Pérez-Vera P, Villanueva-Mendoza C. Apam-Garduño D, et al. Among authors: villanueva mendoza c. Ophthalmic Genet. 2019 Dec;40(6):584-587. doi: 10.1080/13816810.2019.1698618. Epub 2019 Dec 6. Ophthalmic Genet. 2019. PMID: 31809626 No abstract available.
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.
Treviño-Herrera AB, Bustamante-Vargas AP, Lisker-Cervantes A, Ríos Y Valles Valles D, Villanueva-Mendoza C, González-Duarte A, Concha-Del-Río LE. Treviño-Herrera AB, et al. Among authors: villanueva mendoza c. Ophthalmic Genet. 2022 Jun;43(3):413-419. doi: 10.1080/13816810.2022.2025606. Epub 2022 Jan 17. Ophthalmic Genet. 2022. PMID: 35038954
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.
Villanueva-Mendoza C, Arellanes-García L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Suárez LF, Zenteno JC. Villanueva-Mendoza C, et al. Ophthalmic Genet. 2010 Sep;31(3):155-8. doi: 10.3109/13816810.2010.492818. Ophthalmic Genet. 2010. PMID: 20565245
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC. Matías-Pérez D, et al. J Hum Genet. 2018 Nov;63(11):1169-1180. doi: 10.1038/s10038-018-0504-1. Epub 2018 Sep 4. J Hum Genet. 2018. PMID: 30181649
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, Hofmann E, Pacheco-Quito M, Wieland I, Cortes-Gonzalez V, Villanueva-Mendoza C, Zenker M, Zenteno JC. Chacon-Camacho OF, et al. Among authors: villanueva mendoza c. Mol Genet Genomic Med. 2019 May;7(5):e625. doi: 10.1002/mgg3.625. Epub 2019 Mar 19. Mol Genet Genomic Med. 2019. PMID: 30891959 Free PMC article.
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