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Next generation sequencing in the diagnosis of Stargardt's disease.
Jimenez-Rolando B, Noval S, Rosa-Perez I, Mata Diaz E, Del Pozo A, Ibañez C, Silla JC, Montaño VEF, Martin-Arenas R, Vallespin E. Jimenez-Rolando B, et al. Among authors: vallespin e. Arch Soc Esp Oftalmol (Engl Ed). 2018 Mar;93(3):119-125. doi: 10.1016/j.oftal.2017.03.012. Epub 2017 May 29. Arch Soc Esp Oftalmol (Engl Ed). 2018. PMID: 28571903 English, Spanish.
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.
González-Iglesias E, López-Vázquez A, Noval S, Nieves-Moreno M, Granados-Fernández M, Arruti N, Rosa-Pérez I, Pacio-Míguez M, Montaño VEF, Rodríguez-Solana P, Del Pozo A, Santos-Simarro F, Vallespín E. González-Iglesias E, et al. Among authors: vallespin e. Int J Mol Sci. 2022 Apr 11;23(8):4233. doi: 10.3390/ijms23084233. Int J Mol Sci. 2022. PMID: 35457050 Free PMC article.
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.
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F. Palomares-Bralo M, et al. Among authors: vallespin e. Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28640240 Free article. No abstract available.
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE. Rodriguez-Zabala M, et al. Among authors: vallespin e. Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28730625
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Rodriguez-Laguna L, et al. Among authors: vallespin e. Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15. Genet Med. 2018. PMID: 29446767 Free article.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández L, Casamayor Polo L, Bravo García-Morato M, Enguita Valls AB, Ruiz-Bravo E, Muñoz-Cabello P, Ibáñez K, Rodríguez-Laguna L, Martín-Arenas R, Ortega M, Palomares-Bralo M, Del Pozo Á, García-Guereta L, García-Miñaúr S, Lapunzina P, Vallespín E. Fernández L, et al. Among authors: vallespin e. Clin Genet. 2021 Mar;99(3):481-483. doi: 10.1111/cge.13884. Epub 2020 Nov 23. Clin Genet. 2021. PMID: 33226119 No abstract available.
113 results