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Vianney Cortés-González
Vianney Cortés-González
Asociación para Evitar la Ceguera en México
在 apec.com.mx 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
522019
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
392019
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
262016
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
182021
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
172016
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
132022
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
132020
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
132015
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
102018
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
92018
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
62020
Ruptura de globo ocular y síndrome de Ehlers-Danlos VI
R Villafuerte-de la Cruz, S Salinas-Longoria, V Cortés-González, ...
Rev Mex Oftalmol [Internet] 92 (4), 182-6, 2018
62018
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
42018
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
32020
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
22024
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
12019
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
12018
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
12018
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
V Cortés-González, M Rodriguez-Morales, P Ataliotis, C Mayer, ...
Human Genetics 143 (12), 1509-1521, 2024
2024
First Molecular Diagnosis of Oestrus ovis (Linnaeus, 1758) Larvae Causing Conjunctival Ophthalmomyiasis in Mexico City, Mexico
CI Olivera-Pérez, O Lagunas-Calvo, V Cortés-González, ...
Acta Parasitologica 69 (3), 1382-1388, 2024
2024
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