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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: garrido g. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: garrido g. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
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: garrido g. BMC Genomics. 2024 Apr 11;25(1):359. doi: 10.1186/s12864-024-10289-z. BMC Genomics. 2024. PMID: 38605287 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.
Increasing and sustaining blood-borne virus screening in Spain and Portugal throughout the COVID-19 pandemic: a multi-center quality improvement intervention.
Vaz-Pinto I, Ortega E, Chivite I, Butí M, Turnes-Vázquez J, Magno-Pereira V, Rocha M, Garrido J, Esteves-Santos C, Guimaraes M, Mourão T, Martínez Roma M, Guilera V, Llaneras-Artigues J, Barreira-Díaz A, Pérez Cachafeiro S, Daponte Angueira S, Xavier E, Vicente M, Garrido G, Heredia MT, Medina D, García Deltoro M. Vaz-Pinto I, et al. Among authors: garrido g. Front Public Health. 2024 Jan 24;11:1268888. doi: 10.3389/fpubh.2023.1268888. eCollection 2023. Front Public Health. 2024. PMID: 38328544 Free PMC article.
254 results