Xenómica e Biomedicina
XB5
Fundación Jiménez Díaz
Madrid, EspañaPublicacions en col·laboració amb investigadors/es de Fundación Jiménez Díaz (23)
2022
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, Vol. 7, Núm. 1
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
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Prevalent alms1 pathogenic variants in spanish alström patients
Genes, Vol. 12, Núm. 2, pp. 1-12
2018
2015
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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513
2014
2010
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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695
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New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping
Molecular Vision, Vol. 16, pp. 137-143
2009
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Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations
Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068
2007
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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
Molecular Vision, Vol. 13, pp. 96-101
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Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients
Investigative Ophthalmology and Visual Science, Vol. 48, Núm. 3, pp. 985-990
2006
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Gene symbol: ABCA4. Disease: Stargardt disease 1.
Human genetics, Vol. 119, Núm. 6, pp. 671
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Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.
Human genetics, Vol. 118, Núm. 6, pp. 777
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Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.
Human genetics, Vol. 118, Núm. 6, pp. 778
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Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.
Human genetics, Vol. 118, Núm. 6, pp. 784
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Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: Evidence of a prevalent mutated allele
Molecular Vision, Vol. 12, pp. 902-908
2005
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Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype-phenotype correlation
Clinical Genetics, Vol. 68, Núm. 3, pp. 204-214
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Mutations including the promoter region of myocilin/TIGR gene
European Journal of Human Genetics, Vol. 13, Núm. 3, pp. 384-387
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Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration
Molecular Vision, Vol. 11, pp. 922-928