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Page 1
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.
Sánchez-Cazorla E, González-Atienza C, López-Vázquez A, Arruti N, Nieves-Moreno M, Noval S, Mena R, Rodríguez-Jiménez C, Rodríguez-Solana P, González-Iglesias E, Guerrero-Carretero M, D'Anna Mardero O, Coca-Robinot J, Acal JC, Blasco J, Castañeda C, Fraile Maya J, Del Pozo Á, Gómez-Pozo MV, Montaño VEF, Dios-Blázquez L, Rodríguez-Antolín C, Gómez-Cano MLÁ, Delgado-Mora L, Vallespín E. Sánchez-Cazorla E, et al. Among authors: vallespin e. Int J Mol Sci. 2023 Oct 27;24(21):15676. doi: 10.3390/ijms242115676. Int J Mol Sci. 2023. PMID: 37958660 Free PMC article.
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.
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Aguirre-Lamban J, et al. Among authors: vallespin e. Hum Genet. 2009 Aug;126(2):341. Hum Genet. 2009. PMID: 19694024 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre J, et al. Among authors: vallespin e. Hum Genet. 2008 Jun;123(5):544. Hum Genet. 2008. PMID: 20960623 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, Ayuso C. Aguirre-Lamban J, et al. Among authors: vallespin e. Hum Genet. 2008 Jun;123(5):546. Hum Genet. 2008. PMID: 20960628 No abstract available.
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, Ayuso C. Aguirre-Lamban J, et al. Among authors: vallespin e. Hum Genet. 2009 Aug;126(2):330. Hum Genet. 2009. PMID: 19693992 No abstract available.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: vallespin e. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
115 results