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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
Domínguez-Ruiz M, Olarte M, Onecha E, García-Vaquero I, Gelvez N, López G, Villamar M, Morín M, Moreno-Pelayo MA, Morales-Angulo C, Polo R, Tamayo ML, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: tamayo ml. Genes (Basel). 2024 Jul 19;15(7):951. doi: 10.3390/genes15070951. Genes (Basel). 2024. PMID: 39062730 Free PMC article.
Detection of hearing loss in newborns: Definition of a screening strategy in Bogotá, Colombia.
Olarte M, Bermúdez Rey MC, Beltran AP, Guerrero D, Suárez-Obando F, López G, García M, Ospina JC, Fonseca C, Bertolotto AM, Aldana N, Gelvez N, Tamayo ML. Olarte M, et al. Among authors: tamayo ml. Int J Pediatr Otorhinolaryngol. 2019 Jul;122:76-81. doi: 10.1016/j.ijporl.2019.03.016. Epub 2019 Mar 26. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30978473
Diagnostic definition of malattia leventinese in a family from Colombia.
Gelvez N, Hurtado-Villa P, Flórez S, Brieke AC, Rodríguez F, Bertolotto AM, Tamayo ML. Gelvez N, et al. Among authors: tamayo ml. Biomedica. 2021 Sep 22;41(3):388-395. doi: 10.7705/biomedica.5604. Biomedica. 2021. PMID: 34559486 Free PMC article. English, Spanish.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M, Moya R, Azevedo Souza Amaral R, Schlottmann PG, Álvarez Mendiara A, Francone A, Guazi Resende R, Capalbo L, Gelvez N, López G, Morales-Acevedo AM, Ossa RH, Arno G, Michaelides M, Tamayo ML, Ferraz Sallum JM. Daich Varela M, et al. Among authors: tamayo ml. Ophthalmol Retina. 2024 Feb;8(2):163-173. doi: 10.1016/j.oret.2023.09.007. Epub 2023 Sep 13. Ophthalmol Retina. 2024. PMID: 37714431 Free article.
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
Representatives of the Global Familial Hypercholesterolemia Community; Wilemon KA, Patel J, Aguilar-Salinas C, Ahmed CD, Alkhnifsawi M, Almahmeed W, Alonso R, Al-Rasadi K, Badimon L, Bernal LM, Bogsrud MP, Braun LT, Brunham L, Catapano AL, Cillíková K, Corral P, Cuevas R, Defesche JC, Descamps OS, de Ferranti S, Eiselé JL, Elikir G, Folco E, Freiberger T, Fuggetta F, Gaspar IM, Gesztes ÁG, Grošelj U, Hamilton-Craig I, Hanauer-Mader G, Harada-Shiba M, Hastings G, Hovingh GK, Izar MC, Jamison A, Karlsson GN, Kayikçioglu M, Koob S, Koseki M, Lane S, Lima-Martinez MM, López G, Martinez TL, Marais D, Marion L, Mata P, Maurina I, Maxwell D, Mehta R, Mensah GA, Miserez AR, Neely D, Nicholls SJ, Nohara A, Nordestgaard BG, Ose L, Pallidis A, Pang J, Payne J, Peterson AL, Popescu MP, Puri R, Ray KK, Reda A, Sampietro T, Santos RD, Schalkers I, Schreier L, Shapiro MD, Sijbrands E, Soffer D, Stefanutti C, Stoll M, Sy RG, Tamayo ML, Tilney MK, Tokgözoglu L, Tomlinson B, Vallejo-Vaz AJ, Vazquez-Cárdenas A, de Luca PV, Wald DS, Watts GF, Wenger NK, Wolf M, Wood D, Zegerius A, Gaziano TA, Gidding SS. Representatives of the Global Familial Hypercholesterolemia Community, et al. Among authors: tamayo ml. JAMA Cardiol. 2020 Feb 1;5(2):217-229. doi: 10.1001/jamacardio.2019.5173. JAMA Cardiol. 2020. PMID: 31895433
28 results