Publicaciones en las que colabora con Almudena Ávila Fernández (31)

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

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. Disease: Leber congenital amaurosis

    Human Genetics

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

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

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

    Human Genetics

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

    Human Genetics

2009

  1. 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

  2. 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

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

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

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

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

  5. 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. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 124, Núm. 3, pp. 319

  3. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 123, Núm. 5, pp. 546

  4. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 124, Núm. 3, pp. 321

  5. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 124, Núm. 3, pp. 314

  6. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 123, Núm. 5, pp. 547

  7. Gene symbol: ABCA4. Disease: Macular dystrophy.

    Human genetics, Vol. 123, Núm. 5, pp. 544