Publicaciones en colaboración con investigadores/as de Fundación Jiménez Díaz (57)

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. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

2017

  1. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

2014

  1. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407

2013

  1. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2010

  1. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Nature Genetics, Vol. 42, Núm. 2, pp. 175-180

  2. Disease: Leber congenital amaurosis

    Human Genetics

  3. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

    Molecular Vision, Vol. 16, pp. 2550-2558

  4. Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis

    Human Genetics

  5. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)

    Human Genetics

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

  2. Frequency of ABCA4 mutations in 278 Spanish controls: An insight into the prevalence of autosomal recessive Stargardt disease

    British Journal of Ophthalmology, Vol. 93, Núm. 10, pp. 1359-1364

  3. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: Identification of 21 novel variants

    British Journal of Ophthalmology, Vol. 93, Núm. 5, pp. 614-621

  4. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

    Human genetics, Vol. 126, Núm. 2, pp. 341

  5. Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

    Human genetics, Vol. 126, Núm. 2, pp. 330

  6. Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

    Human genetics, Vol. 125, Núm. 3, pp. 349

2008

  1. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa

    Investigative Ophthalmology and Visual Science, Vol. 49, Núm. 6, pp. 2709-2713

  2. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

    Molecular Vision, Vol. 14, pp. 1388-1394

  3. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

    Haemophilia, Vol. 14, Núm. 3, pp. 593-598