| Rights | Preview | Issue Date | Title | Author(s) | Type |
| openAccess |  | Feb-1997 | A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21 | Martínez Mir, Amalia CSIC ORCID; Bayés, Mónica; Vilageliu, L.; Grinberg, Daniel; Ayuso, Carmen; Río, Teresa del; García-Sandoval, Blanca; Bussaglia, Elena; Baiget, Montserrat; González-Duarte, Roser; Balcells, Susana | artículo |
| closedAccess |  | 2004 | Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia [1] | Gallardo, M. Esther CSIC ORCID; Rodríguez de Córdoba, Santiago CSIC ORCID ; Schneider, Adele S.; Dwyer, M. A.; Ayuso, Carmen; Bovolenta, Paola CSIC ORCID | artículo |
| closedAccess |  | 2013 | Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population | Almoguera, Berta; Riveiro-Álvarez, Rosa; López-Castromán, Jorge; Dorado, Pedro; Vaquero-Lorenzo, Concepción; Fernández-Piqueras, José CSIC ORCID; Llerena, Adrián; Abad-Santos, Francisco; Baca-García, Enrique; Dal-Ré, Rafael; Ayuso, Carmen | artículo |
| openAccess |  | 9-Jun-2011 | ATA 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 CSIC ORCID; Dal-Ré, Rafael; Abad-Santos, Francisco; Llerena, Adrián; Ayuso, Carmen; Spanish Consortium of Pharmacogenetics Research | artículo |
| openAccess |  | Nov-1996 | Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease | Bayés, Mónica; Martínez Mir, Amalia CSIC ORCID; Valverde, Diana; Río, E. del; Vilageliu, L.; Grinberg, Daniel; Balcells, Susana; Ayuso, Carmen; Baiget, Montserrat; González-Duarte, Roser | artículo |
| closedAccess |  | 2018 | CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype | Rodriguez-Laguna, Lara; Ibañez, Kristina; Gordo, Gema; Garcia-Minaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia CSIC; 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. CSIC ORCID; Nevado, Julian; Lapunzina, Pablo; Lopez-Gutierrez, Juan C.; Martinez-Glez, Víctor | artículo |
| openAccess |  | 2017 | Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C > A; p.Ser545Arg | Zurita Díaz, Francisco; Galera, Teresa; Moreno-Izquierdo, Ana; Cortón, Marta; Ayuso, Carmen; Garesse, Rafael CSIC ORCID; Gallardo, M. Esther CSIC ORCID | artículo |
| openAccess |  | 2018 | Establishment 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 gene | Zurita Díaz, Francisco; Ortuño-Costela, María del Carmen; Moreno-Izquierdo, Ana; Galbis, Liliana; Millán, José María; Ayuso, Carmen; Garesse, Rafael CSIC ORCID; Gallardo, M. Esther CSIC ORCID | artículo |
| closedAccess | | Jun-2011 | Ethics on genetic research (2). Genetic susceptibility studies | Ayuso, Carmen; Tellería, Juan José CSIC ORCID; Tejedor, Juan Carlos; Gracia, Diego | artículo |
| openAccess |  | 2016 | Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene | Zurita Díaz, Francisco; Galera, Teresa; Moreno-Izquierdo, Ana; Fraga, Mario F.; Ayuso, Carmen; Fernández, Agustín F.; Garesse, Rafael CSIC ORCID; Gallardo, M. Esther CSIC ORCID | artículo |
| openAccess |  | 2016 | Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene | Galera, Teresa; Zurita Díaz, Francisco; Moreno-Izquierdo, Ana; Fraga, Mario F.; Fernández, Agustín F.; Ayuso, Carmen; Garesse, Rafael CSIC ORCID; Gallardo, M. Esther CSIC ORCID | artículo |
| closedAccess |  | 1999 | Genomic 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 anomalies | Gallardo, M. Esther CSIC ORCID; Lopez-Rios, Javier; Fernaud-Espinosa, Isabel CSIC ORCID; Granadino, Begoña CSIC ORCID ; Sanz, Raúl; Ramos, Carmen; Ayuso, Carmen; Seller, Mary J.; Brunner, Han G.; Bovolenta, Paola CSIC ORCID; Rodríguez de Córdoba, Santiago CSIC ORCID | artículo |
| openAccess | | 21-Sep-2021 | High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease | Soria, María Eugenia; Cortón, Marta; Martínez-González, Brenda; Lobo-Vega, Rebeca; Vázquez-Sirvent, Lucía; López-Rodríguez, Rosario; Almoguera, Berta; Mahillo-Fernández, Ignacio; Mínguez, Pablo; Herrero, Antonio; Taracido, Juan Carlos; Macías-Valcayo, Alicia; Esteban, Jaime; Fernández-Roblas, Ricardo; Gadea, Ignacio; Ruíz-Hornillos, Javier; Ayuso, Carmen; Perales, Celia CSIC ORCID | artículo |
| openAccess |  | 16-Nov-2020 | High SARS-CoV-2 viral load is associated with a worse clinical outcome of COVID-19 disease | Soria, María Eugenia; Cortón, Marta; Martínez-González, Brenda; Lobo-Vega, Rebeca; Vázquez-Sirvent, Lucía; López-Rodríguez, Rosario; Almoguera, Berta; Mahillo-Fernández, Ignacio; Mínguez, Pablo; Herrero, Antonio; Taracido, Juan Carlos; Macías-Valcayo, Alicia; Esteban, Jaime; Fernández-Roblas, Ricardo; Gadea, Ignacio; Ruíz-Hornillos, Javier; Ayuso, Carmen; Perales, Celia CSIC ORCID | preprint |
| openAccess | | 2016 | Modeling AIPL1-defect using iPS-derived retinal progenitors from a patient Leber Congenital Amaurosis | Cerda, Berta de la CSIC ORCID CVN; Díez-Lloret, Andrea CSIC; Díaz-Corrales, Francisco J. CSIC ORCID; Valdés-Sánchez, María Lourdes; García-Delgado, Ana B.; Rodriguez-Bocanegra, Eduardo; Bhatia, Vaibhav; Ayuso, Carmen; Bhattacharya, Shom Shanker CSIC ORCID | póster de congreso |
| openAccess |  | 2014 | Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain | Tejada, María Isabel; Martínez, Francisco; Fernández Carvajal, Mª Isabel CSIC; Ayuso, Carmen; Milà, Montserrat | artículo |
| openAccess |  | 2013 | Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients | Kamenarova, Kunka; Cortón, Marta; García-Sandoval, Blanca; Fernández-San José, Patricia; Panchev, Valentín; Ávila-Fernández, Almudena; López-Molina, María Isabel; Chakarova, Christina; Ayuso, Carmen; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess | | Oct-2002 | Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa | Paloma, Eva; Martínez Mir, Amalia CSIC ORCID; García-Sandoval, Blanca; Ayuso, Carmen; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |
| openAccess |  | Jan-1998 | Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR | Martínez Mir, Amalia CSIC ORCID; Paloma, Eva; Allikmets, Rando; Ayuso, Carmen; Río, Teresa del; Dean, Michael; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |
| openAccess | | 12-Jan-2022 | SARS-CoV-2 Point Mutation and Deletion Spectra, and Their Association with Different Disease Outcome | Martínez-González, Brenda; Soria, María Eugenia; Vázquez-Sirvent, Lucía; Ferrer-Orta, Cristina CSIC ; Lobo-Vega, Rebeca; Mínguez, Pablo; Fuente, Lorena de la; Llorens, Carlos; Soriano, Beatriz; Ramos-Ruiz, Ricardo; Cortón, Marta; López-Rodríguez, Rosario; García-Crespo, Carlos; Gallego, Isabel CSIC ORCID; Ávila, Ana Isabel de; Gómez, Jordi; Enjuanes Sánchez, Luis CSIC ORCID ; Salar-Vidal, Llanos; Esteban, Jaime; Fernández-Roblas, Ricardo; Gadea, Ignacio; Ayuso, Carmen; Ruíz-Hornillos, Javier; Verdaguer, Núria CSIC ORCID ; Domingo, Esteban CSIC ORCID; Perales, Celia CSIC ORCID | preprint |
