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Ascension Gimenez

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24

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462

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

2016 PLOS ONE
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Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families

2013 Ophthalmology
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Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.

2008 Human Genetics
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Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

2008 Molecular Vision
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CERKL Mutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa

2008 Investigative Ophthalmology & Visual Science
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Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

2007 Human Genetics
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Citations (3)
Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

2007 Human Genetics
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Gene symbol: NDP. Disease: Norrie disease.

2006 Human Genetics
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The Use of a Genotyping Microarray in Leber Congenital Amaurosis: Suspected Triallelism

2006 Investigative Ophthalmology & Visual Science
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Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

2005 Human Genetics
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Citations (2)