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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Rodríguez-Solana P, Arruti N, Nieves-Moreno M, Mena R, Rodríguez-Jiménez C, Guerrero-Carretero M, Acal JC, Blasco J, Peralta JM, Del Pozo Á, Montaño VEF, Dios-Blázquez L, Fernández-Alcalde C, González-Atienza C, Sánchez-Cazorla E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E. Rodríguez-Solana P, et al. Among authors: vallespin e. Int J Mol Sci. 2023 Jul 13;24(14):11429. doi: 10.3390/ijms241411429. Int J Mol Sci. 2023. PMID: 37511188 Free PMC article.
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.
Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: vallespin e. Hum Genet. 2006 Feb;118(6):784. Hum Genet. 2006. PMID: 17297718 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Among authors: vallespin e. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521246 No abstract available.
Gene symbol: CHM. Disease: Choroideraemia.
Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, Ayuso C. Villaverde C, et al. Among authors: vallespin e. Hum Genet. 2008 Oct;124(3):302. Hum Genet. 2008. PMID: 18846629 No abstract available.
Gene symbol: CRB1.
Vallespin E, Millan JM, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Gallego J, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2007 Feb;120(6):914. Hum Genet. 2007. PMID: 17438615 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Among authors: vallespin e. Hum Genet. 2005 Dec;118(3-4):535. Hum Genet. 2005. PMID: 16521244 No abstract available.
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.
Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: vallespin e. Hum Genet. 2006 Feb;118(6):777. Hum Genet. 2006. PMID: 17297691 No abstract available.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro R, et al. Among authors: vallespin e. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521245 No abstract available.
113 results