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

Year Number of Results
1990 1
1991 3
1992 2
1993 1
1994 2
1995 2
1996 1
1997 1
1999 3
2000 3
2001 4
2002 7
2003 9
2004 6
2005 5
2006 4
2007 5
2008 7
2009 5
2010 2
2011 5
2012 4
2013 4
2014 3
2015 3
2016 1
2017 1
2018 1
2019 4
2020 1
2021 6
2022 7
2023 4
2024 2

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109 results

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Page 1
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: del castillo i. BMC Genomics. 2024 Apr 11;25(1):359. doi: 10.1186/s12864-024-10289-z. BMC Genomics. 2024. PMID: 38605287 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: del castillo i. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.
Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington's Disease.
Rodríguez-Urgellés E, Casas-Torremocha D, Sancho-Balsells A, Ballasch I, García-García E, Miquel-Rio L, Manasanch A, Del Castillo I, Chen W, Pupak A, Brito V, Tornero D, Rodríguez MJ, Bortolozzi A, Sanchez-Vives MV, Giralt A, Alberch J. Rodríguez-Urgellés E, et al. Among authors: del castillo i. Cell Mol Life Sci. 2023 Nov 21;80(12):367. doi: 10.1007/s00018-023-05015-z. Cell Mol Life Sci. 2023. PMID: 37987826 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: del castillo i. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease.
Rodríguez-Urgellés E, Rodríguez-Navarro I, Ballasch I, Del Toro D, Del Castillo I, Brito V, Alberch J, Giralt A. Rodríguez-Urgellés E, et al. Among authors: del castillo i. Neurobiol Dis. 2022 Oct 15;173:105854. doi: 10.1016/j.nbd.2022.105854. Epub 2022 Aug 24. Neurobiol Dis. 2022. PMID: 36029989 Free article.
Genetics of Hearing Impairment.
Kremer H, Del Castillo I. Kremer H, et al. Among authors: del castillo i. Genes (Basel). 2022 May 11;13(5):852. doi: 10.3390/genes13050852. Genes (Basel). 2022. PMID: 35627237 Free PMC article.
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: del castillo i. Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149. Genes (Basel). 2022. PMID: 35052489 Free PMC article.
109 results