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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M. Damián A, et al. Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713. Int J Mol Sci. 2021. PMID: 34884523 Free PMC article.
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M. Blanco-Kelly F, et al. Among authors: damian a. Arch Soc Esp Oftalmol (Engl Ed). 2021 Jul 6:S0365-6691(21)00124-6. doi: 10.1016/j.oftal.2021.02.002. Online ahead of print. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34243981 Review. English, Spanish.
Genetics and epidemiology of aniridia: Updated guidelines for genetic study.
Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M. Blanco-Kelly F, et al. Among authors: damian a. Arch Soc Esp Oftalmol (Engl Ed). 2021 Nov;96 Suppl 1:4-14. doi: 10.1016/j.oftale.2021.02.002. Epub 2021 Oct 22. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34836588 Review.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández A, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C, Mínguez P. Romero R, et al. Among authors: damian a. NPJ Genom Med. 2022 Jan 27;7(1):7. doi: 10.1038/s41525-021-00278-6. NPJ Genom Med. 2022. PMID: 35087072 Free PMC article.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP. Arteche-López A, et al. Among authors: damian a. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Among authors: damian a. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930
Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.
Sosa AL, Brucki SM, Crivelli L, Lopera FJ, Acosta DM, Acosta-Uribe J, Aguilar D, Aguilar-Navarro SG, Allegri RF, Bertolucci PH, Calandri IL, Carrillo MC, Mendez PAC, Cornejo-Olivas M, Custodio N, Damian A, de Souza LC, Duran-Aniotz C, García AM, García-Peña C, Gonzales MM, Grinberg LT, Ibanez AM, Illanes-Manrique MZ, Jack CR Jr, Leon-Salas JM, Llibre-Guerra JJ, Luna-Muñoz J, Matallana D, Miller BL, Naci L, Parra MA, Pericak-Vance M, Piña-Escudero SD, França Resende EP, Ringman JM, Sevlever G, Slachevsky A, Suemoto CK, Valcour V, Villegas-Lanau A, Yassuda MS, Mahinrad S, Sexton C. Sosa AL, et al. Among authors: damian a. Alzheimers Dement. 2024 May 27. doi: 10.1002/alz.13850. Online ahead of print. Alzheimers Dement. 2024. PMID: 38801124 Review.
158 results