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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: del pozo a. Int J Mol Sci. 2023 Oct 27;24(21):15676. doi: 10.3390/ijms242115676. Int J Mol Sci. 2023. PMID: 37958660 Free PMC article.
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: del pozo a. 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 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: del pozo a. 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: del pozo a. 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.
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: del pozo a. 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.
A new variant in PHKA2 is associated with glycogen storage disease type IXa.
Rodríguez-Jiménez C, Santos-Simarro F, Campos-Barros Á, Camarena C, Lledín D, Vallespín E, Del Pozo Á, Mena R, Lapunzina P, Rodríguez-Nóvoa S. Rodríguez-Jiménez C, et al. Among authors: del pozo a. Mol Genet Metab Rep. 2017 Jan 12;10:52-55. doi: 10.1016/j.ymgmr.2017.01.003. eCollection 2017 Mar. Mol Genet Metab Rep. 2017. PMID: 28116244 Free PMC article.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Pacio-Miguez M, Parrón-Pajares M, Gordon CT, Santos-Simarro F, Rodríguez Jiménez C, Mena R, Rueda Arenas I, F Montaño VE, Fernández M, Solís M, Del Pozo Á, Amiel J, García-Miñaur S, Palomares-Bralo M. Pacio-Miguez M, et al. Among authors: del pozo a. Am J Med Genet A. 2022 Sep;188(9):2819-2824. doi: 10.1002/ajmg.a.62883. Epub 2022 Jul 2. Am J Med Genet A. 2022. PMID: 35779070
176 results