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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 1
2005 3
2006 1
2007 3
2008 2
2010 1
2011 6
2012 5
2013 5
2014 2
2015 3
2017 2
2018 2
2019 3
2020 1
2021 3
2022 1
2023 2
2024 2

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43 results

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Page 1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Night blindness and hearing loss associated with choroideremia.
Biarnés M, Ferraro LL, Hernán I, Gamundi MJ, Garcia Planas M, Abadías C, Romero C, Carrasco A, Carballo M, Monés J. Biarnés M, et al. Among authors: hernan i. Clin Exp Optom. 2023 Jun 22:1-4. doi: 10.1080/08164622.2023.2227766. Online ahead of print. Clin Exp Optom. 2023. PMID: 37349105 No abstract available.
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. Pena-Couso L, et al. Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Orphanet J Rare Dis. 2022. PMID: 35227301 Free PMC article.
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.
Arzalluz-Luque Á, Cabrera JL, Skottman H, Benguria A, Bolinches-Amorós A, Cuenca N, Lupo V, Dopazo A, Tarazona S, Delás B, Carballo M, Pascual B, Hernan I, Erceg S, Lukovic D. Arzalluz-Luque Á, et al. Among authors: hernan i. Front Neurosci. 2021 Apr 29;15:636969. doi: 10.3389/fnins.2021.636969. eCollection 2021. Front Neurosci. 2021. PMID: 33994920 Free PMC article.
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Jaijo T, et al. Among authors: hernan i. Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x. Clin Genet. 2011. PMID: 20497194
Therapeutic mammaplasty is a safe and effective alternative to mastectomy with or without immediate breast reconstruction.
Potter S, Trickey A, Rattay T, O'Connell RL, Dave R, Baker E, Whisker L, Skillman J, Gardiner MD, Macmillan RD, Holcombe C; TeaM and iBRA-2 Steering Groups, the Breast Reconstruction Research Collaborative, and the Mammary Fold Academic and Research Collaborative. Potter S, et al. Br J Surg. 2020 Jun;107(7):832-844. doi: 10.1002/bjs.11468. Epub 2020 Feb 19. Br J Surg. 2020. PMID: 32073654
43 results