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

Autor: Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M.J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M.A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M.I., Perez-Carro, R., Da Silva, L.R.J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S.D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M.J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antiñolo, G., Baiget, M., Carballo, M., Millan, J.M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F.P.M., Collin, R.W.J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M.C., Ballesta-Martinez, M.J., Beltran, S., Benito Lopez, C., Català-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galán-Gómez, E., Garcia-Barcina, M., Garcia-Cruz, L.M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Álvarez, S., Llano-Rivas, I., López-Ariztegui, M.A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F.J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Peña, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., Ayuso, C.

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientific Reports, 11
Scientific Reports
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports, 11, 1

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group.
Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae348fa893b0fbb438b0385dcea3179e
https://hdl.handle.net/2066/231675

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Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Autor: Garcia-Hoyos, M., Auz-Alexandre, C. L., Almoguera, B., Cantalapiedra, D., Riveiro-Alvarez, R., Lopez-Martinez, M. A., Gimenez, A., Blanco-Kelly, F., Avila-Fernandez, A., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ramos, C., Carmen Ayuso

Publikováno v: Molecular Vision
Scopus-Elsevier

Purpose Heterozygous mutations around codon 838 of the guanylate cyclase 2D (GUCY2D) gene have recently been associated with more than a third of autosomal dominant macular dystrophy patients. The aim of our study was to evaluate the prevalence of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c2ff53c54e84a0687ea1dfcd31cf9174
http://europepmc.org/articles/PMC3087450

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534

Autor: Elena Vallespin, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Mj, Trujillo-Tiebas, Ayuso C

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1c8d0c35addd05a98814d0aa367f8a20
https://pubmed.ncbi.nlm.nih.gov/17297689

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