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115 results

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Page 1
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.
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
González-Atienza C, Sánchez-Cazorla E, Villoldo-Fernández N, Del Hierro A, Boto A, Guerrero-Carretero M, Nieves-Moreno M, Arruti N, Rodríguez-Solana P, Mena R, Rodríguez-Jiménez C, Rosa-Pérez I, Acal JC, Blasco J, Naranjo-Castresana M, Ruz-Caracuel B, Montaño VEF, Ortega Patrón C, Rubio-Martín ME, García-Fernández L, Rikeros-Orozco E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E. González-Atienza C, et al. Among authors: vallespin e. Genes (Basel). 2023 Sep 22;14(10):1838. doi: 10.3390/genes14101838. Genes (Basel). 2023. PMID: 37895187 Free PMC article.
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.
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Arruti N, Rodríguez-Solana P, Nieves-Moreno M, Guerrero-Carretero M, Del Pozo Á, Montaño VEF, Santos-Simarro F, Rikeros-Orozco E, Delgado-Mora L, Vallespín E, Noval S. Arruti N, et al. Among authors: vallespin e. Curr Issues Mol Biol. 2023 Jan 5;45(1):465-478. doi: 10.3390/cimb45010030. Curr Issues Mol Biol. 2023. PMID: 36661516 Free PMC article.
Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.
Fernández-Gutiérrez E, Fernández-Pérez P, Boto-De-Los-Bueis A, García-Fernández L, Rodríguez-Solana P, Solís M, Vallespín E. Fernández-Gutiérrez E, et al. Among authors: vallespin e. Int J Mol Sci. 2022 Dec 22;24(1):209. doi: 10.3390/ijms24010209. Int J Mol Sci. 2022. PMID: 36613650 Free PMC article.
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyas M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: vallespin e. Hum Genet. 2005 Dec;118(3-4):534. Hum Genet. 2005. PMID: 16521240 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: 16521243 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: 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.
Gene symbol: ABCA4. Disease: Stargardt disease 1.
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 Jul;119(6):671. Hum Genet. 2006. PMID: 17128450 No abstract available.
115 results