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

Year Number of Results
2002 1
2003 2
2005 1
2006 1
2007 1
2008 4
2009 1
2010 1
2012 1
2013 1
2015 1
2018 1
2019 1
2020 1
2021 1
2022 2
2023 1
2024 0

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22 results

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Page 1
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: villamar m. Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149. Genes (Basel). 2022. PMID: 35052489 Free PMC article.
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Morín M, Borreguero L, Booth KT, Lachgar M, Huygen P, Villamar M, Mayo F, Barrio LC, Santos Serrão de Castro L, Morales C, Del Castillo I, Arellano B, Tellería D, Smith RJH, Azaiez H, Moreno Pelayo MA. Morín M, et al. Among authors: villamar m. Sci Rep. 2020 Apr 10;10(1):6213. doi: 10.1038/s41598-020-63256-5. Sci Rep. 2020. PMID: 32277154 Free PMC article.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: villamar m. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M. Tarilonte M, et al. Among authors: villamar m. Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018. Front Genet. 2018. PMID: 30386378 Free PMC article.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: villamar m. J Transl Med. 2019 Aug 28;17(1):290. doi: 10.1186/s12967-019-2041-x. J Transl Med. 2019. PMID: 31455392 Free PMC article.
22 results