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Clinical & Experimental Ophthalmology|July 24, 2010
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinismMonica Martinez-Garcia, Rosa Riveiro-Alvarez, Cristina Villaverde-Montero, et al.
American Journal of Ophthalmology|March 1, 2011
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova, Thomy de Ravel, Carmen Ayuso, et al.
Stem Cell Research|September 12, 2019
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667LysVictoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, et al.
Investigative Ophthalmology & Visual Science|December 5, 2009
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 geneJana Aguirre-Lamban, Rosa Riveiro-Alvarez, Maria Garcia-Hoyos, et al.
Molecular Vision|December 15, 2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosaElena Vallespin, Miguel-Angel Lopez-Martinez, Diego Cantalapiedra, 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 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.
Human Genomics|June 2, 2023
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesAlejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
New type of mutations in three spanish families with choroideremiaMaria Garcia-Hoyos, Isabel Lorda-Sanchez, Pilar Gómez-Garre, et al.
Plos One|February 24, 2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHFiona Blanco-Kelly, María Palomares, Elena Vallespín, et al.
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