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  • Elena Vallespín, Diego Cantalapiedra, +8 authors Carmen Pallarés Ayuso
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 2007 (First Publication: 1 December 2007)
  • PURPOSE Leber Congenital Amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. This study was a mutational analysis of eight genes (AIPL1, CRB1, CRX,Continue Reading
  • Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, +14 authors Carmen Pallarés Ayuso
  • Medicine
  • Ophthalmology
  • 2013 (First Publication: 1 November 2013)
  • OBJECTIVE To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD),Continue Reading
  • Almudena Ávila-Fernández, Diego Cantalapiedra, +10 authors Carmen Ayuso
  • Biology, Medicine
  • Molecular vision
  • 2010 (First Publication: 3 December 2010)
  • Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 SpanishContinue Reading
  • Jana Aguirre-Lambán, Juan J. González-Aguilera, +7 authors Carmen Pallarés Ayuso
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 2011 (First Publication: 5 August 2011)
  • PURPOSE Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa. The purpose of thisContinue Reading
  • Jana Aguirre-Lambán, Rosa Riveiro-Álvarez, +6 authors Carmen Ayuso
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 2010 (First Publication: 1 May 2010)
  • PURPOSE Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD), a few cases of autosomal recessive cone-rod dystrophy (arCRD), and autosomal recessiveContinue Reading
  • María García-Hoyos, Blanca García-Sandoval, +8 authors Carmen Pallarés Ayuso
  • Biology, Medicine
  • Investigative ophthalmology & visual science
  • 2006 (First Publication: 1 September 2006)
  • PURPOSE The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped, although only two genes, RPGR (forContinue Reading
  • Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, +6 authors Carmen Pallarés Ayuso
  • Biology, Medicine
  • Molecular vision
  • 2005 (First Publication: 2 September 2005)
  • PURPOSE Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linkedContinue Reading
  • Elena Vallespín, Miguel-Ángel López-Martínez, +6 authors Carmen Pallarés Ayuso
  • Biology, Medicine
  • Molecular vision
  • 2007 (First Publication: 27 November 2007)
  • PURPOSE Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype.Continue Reading