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Genes|December 22, 2019
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the EyeDulce Lima Cunha, Gavin Arno, Marta Corton, et al.
European Journal of Human Genetics : EJHG|October 7, 2020
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicismDulce Lima Cunha, Nicholas Owen, Vijay Tailor, et al.
Stem Cell Research|October 17, 2017
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545ArgFrancisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, et al.
Frontiers in Genetics|October 29, 2024
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locusCristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, et al.
Plos One|August 14, 2013
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosisMarta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, et al.
The American Journal of Pathology|November 6, 2007
Genomic and proteomic profiles reveal the association of gelsolin to TP53 status and bladder cancer progressionMarta Sanchez-Carbayo, Nicholas D Socci, Lee Richstone, et al.
Cells|February 26, 2026
mRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells in PAX6-Related Congenital AniridiaTanja Stachon, Shweta Suiwal, Maryam Amini, et al.
BMC Medical Genetics|January 8, 2017
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case reportFiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, et al.
Plos One|June 10, 2025
Gene expression study in the siRNA based aniridia cell model and in primary aniridia limbal epithelial cells following duloxetine and ritanserin treatmentShweta Suiwal, Tanja Stachon, Zhen Li, et al.
International Journal of Molecular Sciences|January 21, 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital AniridiaAlejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, et al.
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