Publicacións nas que colabora con Carmen Ayuso García (28)

2022

  1. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

2021

  1. 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

  2. Prevalent alms1 pathogenic variants in spanish alström patients

    Genes, Vol. 12, Núm. 2, pp. 1-12

2018

  1. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

    Scientific Reports, Vol. 8, Núm. 1

2015

  1. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

    Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513

2014

  1. Overview of Bardet-Biedl syndrome in Spain: Identification of novel mutations in BBS1, BBS10 and BBS12 genes

    Clinical Genetics

2012

  1. Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

    Molecular vision, Vol. 18, pp. 1794-1802

2010

  1. Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

    American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695

  2. 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

  1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068

2007

  1. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

    Molecular Vision, Vol. 13, pp. 96-101

  2. 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

  1. Gene symbol: ABCA4. Disease: Stargardt disease 1.

    Human genetics, Vol. 119, Núm. 6, pp. 671

  2. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.

    Human genetics, Vol. 118, Núm. 6, pp. 777

  3. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.

    Human genetics, Vol. 118, Núm. 6, pp. 778

  4. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.

    Human genetics, Vol. 118, Núm. 6, pp. 784

  5. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

    Journal of medical genetics, Vol. 43, Núm. 11

  6. 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

  7. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

    Human mutation, Vol. 27, Núm. 3, pp. 290-291

2005

  1. 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