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114 results

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Page 1
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 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.
New type of mutations in three spanish families with choroideremia.
Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. Garcia-Hoyos M, et al. Among authors: vallespin e. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. doi: 10.1167/iovs.07-1169. Invest Ophthalmol Vis Sci. 2008. PMID: 18385043
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: 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: 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: 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.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Among authors: vallespin e. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.
114 results