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Browsing by Author Ayuso, Carmen

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Showing results 1 to 17 of 17
RightsPreviewIssue DateTitleAuthor(s)Type
openAccessAMM_Genomics 40(1)142-146 (1997) PMID 9070931.pdf.jpgFeb-1997A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21Martínez Mir, Amalia ; Bayés, Mónica; Vilageliu, L.; Grinberg, Daniel; Ayuso, Carmen; Río, Teresa del; García-Sandoval, Blanca; Bussaglia, Elena; Baiget, Montserrat; González-Duarte, Roser; Balcells, Susanaartículo
closedAccessaccesoRestringido.pdf.jpg2004Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia [1]Gallardo, M. Esther ; Rodríguez de Córdoba, Santiago ; Schneider, Adele S.; Dwyer, M. A.; Ayuso, Carmen; Bovolenta, Paola artículo
closedAccessaccesoRestringido.pdf.jpg2013Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic populationAlmoguera, Berta; Riveiro-Álvarez, Rosa; López-Castromán, Jorge; Dorado, Pedro; Vaquero-Lorenzo, Concepción; Fernández-Piqueras, José ; Llerena, Adrián; Abad-Santos, Francisco; Baca-García, Enrique; Dal-Ré, Rafael; Ayuso, Carmenartículo
openAccess1471-2350-12-81.pdf.jpg9-Jun-2011ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.Almoguera, Berta; Riveiro-Álvarez, Rosa; López-Castromán, Jorge; Dorado, Pedro; López-Rodríguez, Rosario; Fernández-Navarro, Pablo; Baca-García, Enrique; Fernández-Piqueras, José ; Dal-Ré, Rafael; Abad-Santos, Francisco; Llerena, Adrián; Ayuso, Carmen; Spanish Consortium of Pharmacogenetics Researchartículo
openAccessAMM_Clin Genet 50(5)380-387 (1996) PMID 9007328.pdf.jpgNov-1996Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the diseaseBayés, Mónica; Martínez Mir, Amalia ; Valverde, Diana; Río, E. del; Vilageliu, L.; Grinberg, Daniel; Balcells, Susana; Ayuso, Carmen; Baiget, Montserrat; González-Duarte, Roserartículo
closedAccessaccesoRestringido.pdf.jpg2018CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotypeRodriguez-Laguna, Lara; Ibañez, Kristina; Gordo, Gema; Garcia-Minaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia ; Vallespin, Elena; Fernández-Montaño, Victoria E.; Martín-Arenas, Rubén; Pozo, Angela del; González-Pecellín, Héctor; Mena, Rocío; Rueda-Arenas, Inmaculada; Gomez, María V.; Villaverde, Cristina; Bustamante, Ana; Ayuso, Carmen; Ruiz-Pérez, Victor L. ; Nevado, Julian; Lapunzina, Pablo; Lopez-Gutierrez, Juan C.; Martinez-Glez, Víctorartículo
openAccessestvlishArg.pdf.jpg2017Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C > A; p.Ser545ArgZurita Díaz, Francisco; Galera, Teresa; Moreno-Izquierdo, Ana; Cortón, Marta; Ayuso, Carmen; Garesse, Rafael ; Gallardo, M. Esther artículo
openAccessestablisgene.pdf.jpg2018Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A geneZurita Díaz, Francisco; Ortuño-Costela, María del Carmen; Moreno-Izquierdo, Ana; Galbis, Liliana; Millán, José María; Ayuso, Carmen; Garesse, Rafael ; Gallardo, M. Esther artículo
closedAccessJun-2011Ethics on genetic research (2). Genetic susceptibility studiesAyuso, Carmen; Tellería, Juan José ; Tejedor, Juan Carlos; Gracia, Diegoartículo
openAccessGFM1 gene.pdf.jpg2016Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 geneZurita Díaz, Francisco; Galera, Teresa; Moreno-Izquierdo, Ana; Fraga, Mario F.; Ayuso, Carmen; Fernández, Agustín F.; Garesse, Rafael ; Gallardo, M. Esther artículo
openAccessiPSCOPA1.pdf.jpg2016Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 geneGalera, Teresa; Zurita Díaz, Francisco; Moreno-Izquierdo, Ana; Fraga, Mario F.; Fernández, Agustín F.; Ayuso, Carmen; Garesse, Rafael ; Gallardo, M. Esther artículo
closedAccessaccesoRestringido.pdf.jpg1999Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomaliesGallardo, M. Esther ; Lopez-Rios, Javier; Fernaud-Espinosa, Isabel ; Granadino, Begoña  ; Sanz, Raúl; Ramos, Carmen; Ayuso, Carmen; Seller, Mary J.; Brunner, Han G.; Bovolenta, Paola ; Rodríguez de Córdoba, Santiago artículo
openAccess2016Modeling AIPL1-defect using iPS-derived retinal progenitors from a patient Leber Congenital AmaurosisCerda, Berta de la ; Díez-Lloret, Andrea ; Díaz-Corrales, Francisco J. ; Valdés-Sánchez, María Lourdes; García-Delgado, Ana B.; Rodriguez-Bocanegra, Eduardo; Bhatia, Vaibhav; Ayuso, Carmen; Bhattacharya, Shom Shanker póster de congreso
openAccessTesting for Fragile X.pdf.jpg2014Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in SpainTejada, María Isabel; Martínez, Francisco; Fernández Carvajal, Mª Isabel ; Ayuso, Carmen; Milà, Montserratartículo
openAccessNovel_GUCA1A_Mutations_Kamenarova.pdf.jpg2013Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patientsKamenarova, Kunka; Corton, Marta; García-Sandoval, Blanca; Fernández-San José, Patricia; Panchev, Valentín; Ávila-Fernández, Almudena; López-Molina, María Isabel; Chakarova, Christina; Ayuso, Carmen; Bhattacharya, Shom Shanker artículo
closedAccessOct-2002Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosaPaloma, Eva; Martínez Mir, Amalia ; García-Sandoval, Blanca; Ayuso, Carmen; Vilageliu, L.; González-Duarte, Roser; Balcells, Susanaartículo
openAccessAMM_Nat Genet 18(1) 11-12 (1998) PMID 9425888.pdf.jpgJan-1998Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCRMartínez Mir, Amalia ; Paloma, Eva; Allikmets, Rando; Ayuso, Carmen; Río, Teresa del; Dean, Michael; Vilageliu, L.; González-Duarte, Roser; Balcells, Susanaartículo