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Ophthalmic Genetics|February 7, 2018
Identification of PITX3 mutations in individuals with various ocular developmental defectsCelia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, et al.Molecular Vision|June 13, 2022
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosaMohammed E El-Asrag, Marta Corton, Martin McKibbin, et al.Biomed Research International|September 12, 2013
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patientsKunka Kamenarova, Marta Corton, Blanca García-Sandoval, et al.Ophthalmology|August 25, 2012
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitisAlmudena Avila-Fernandez, Marta Corton, Koji M Nishiguchi, et al.Scientific Reports|March 28, 2020
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1Dunja Lukovic, Ana Artero Castro, Koray Dogan Kaya, et al.Investigative Ophthalmology & Visual Science|February 19, 2011
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factorsJana Aguirre-Lamban, Juan José González-Aguilera, Rosa Riveiro-Alvarez, et al.Journal of Gastrointestinal and Liver Diseases : JGLD|October 1, 2011
A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving AzathioprineWilliam Zabala-Fernández, Manuel Barreiro-de Acosta, Ana Echarri, et al.Orphanet Journal of Rare Diseases|February 6, 2013
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish populationMarta Corton, Sorina D Tatu, Almudena Avila-Fernandez, et al.Journal of Medical Genetics|March 30, 2021
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridiaMaria Tarilonte, Patricia Ramos, Jennifer Moya, et al.Scientific Reports|September 10, 2015
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyKonstantinos Nikopoulos, Almudena Avila-Fernandez, Marta Corton, et al.Pageof 9