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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Among authors: tamayo ml. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
The importance of fundus eye testing in rubella-induced deafness.
Tamayo ML, García N, Bermúdez Rey MC, Morales L, Flórez S, Varón C, Gelvez N. Tamayo ML, et al. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1536-40. doi: 10.1016/j.ijporl.2013.06.028. Epub 2013 Aug 1. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23911114
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.
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.
27 results