Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies OF Chacon‐Camacho, D Lopez‐Moreno, MA Morales‐Sanchez, ... Molecular Genetics & Genomic Medicine 7 (5), e625, 2019 | 42 | 2019 |
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies V Kheir, V Cortés‐González, JC Zenteno, DF Schorderet Human mutation 40 (6), 675-693, 2019 | 33 | 2019 |
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma S Micheal, SN Siddiqui, SN Zafar, C Villanueva-Mendoza, ... PLoS One 11 (7), e0160016, 2016 | 24 | 2016 |
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations V Cortés‐González, JC Zenteno, M Guzmán‐Sánchez, ... American Journal of Medical Genetics Part A 170 (12), 3294-3297, 2016 | 17 | 2016 |
The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes C Villanueva-Mendoza, M Tuson, D Apam-Garduño, M de Castro-Miró, ... Genes 12 (11), 1824, 2021 | 15 | 2021 |
Epidemiología del glaucoma congénito en la Asociación para Evitar la Ceguera en México, revisión de 5 años V Cortés-González, C Villanueva-Mendoza Revista Mexicana de Oftalmología 89 (3), 150-153, 2015 | 12 | 2015 |
Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants V Toulis, V Cortés-González, M de Castro-Miró, J Ferraz Sallum, ... Genes 11 (4), 378, 2020 | 11 | 2020 |
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment P Bahena, N Daftarian, R Maroofian, P Linares, D Villalobos, M Mirrahimi, ... Human Genetics 141 (3), 785-803, 2022 | 10 | 2022 |
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma PR Blackburn, OF Chacon‐Camacho, XR Ortiz‐González, M Reyes, ... American Journal of Medical Genetics Part A 176 (12), 2710-2719, 2018 | 10 | 2018 |
Severe phenotype of keratitis–ichthyosis–deafness syndrome with presumed ocular surface squamous neoplasia AS Serrano-Ahumada, V Cortes-González, LM González-Huerta, ... Cornea 37 (2), 252-254, 2018 | 9 | 2018 |
Ruptura de globo ocular y síndrome de ehlers-Danlos vi Eye globe rupture and Ehlers-Danlos VI syndrome R Villafuerte-de la Cruz, S Salinas-Longoria, V Cortés-González, ... Rev Mex Oftalmol (Eng) 92 (4), 182-186, 2018 | 6 | 2018 |
Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome V Lo Faro, SN Siddiqui, MI Khan, C Villanueva‐Mendoza, ... Molecular genetics & genomic medicine 8 (7), e1215, 2020 | 5 | 2020 |
Cataract in a patient with 47, XYY sex chromosome aneuploidy A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González Archivos de la Sociedad Española de Oftalmología (English Edition) 93 (6 …, 2018 | 3 | 2018 |
Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene GY Ortiz-Ramirez, C Villanueva-Mendoza, JC Zenteno Ruiz, M Reyes, ... Ophthalmic Genetics 41 (6), 625-628, 2020 | 2 | 2020 |
Eye globe rupture and Ehlers-Danlos VI syndrome R Villafuerte-de la Cruz, S Salinas-Longoria, V Cortés-González, ... Revista Mexicana de Oftalmología 92 (4), 209-213, 2019 | 1 | 2019 |
Catarata congénita en un paciente con aneuploidía cromosómica 47, XYY A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González Archivos de la Sociedad Española de Oftalmología 93 (6), 303-306, 2018 | 1 | 2018 |
P418: The diagnostic journey of Mexican patients with Verheij syndrome K Cifuentes-Uribe, A Reyes-De La Rosa, R Moreno-Salgado, ... Genetics in Medicine Open 2, 2024 | | 2024 |
Extension of TORCH spectrum in ophthalmology: congenital Zika, case report A Pando-Cifuentes, V Cortés-González, D Berrones-Medina, ... Revista Médica del Instituto Mexicano del Seguro Social 57 (6), 395-399, 2021 | | 2021 |
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia D Apam-Garduño, V Cortés-González, L Quintana-Fernández, ... Ophthalmic Genetics 40 (6), 584-587, 2019 | | 2019 |
Ampliación del espectro TORCH en oftalmología: Zika congénito, reporte de un caso A Pando-Cifuentes, V Cortés-González, D Berrones-Medina, ... Revista Médica del Instituto Mexicano del Seguro Social 57 (6), 395-399, 2019 | | 2019 |