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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: gelvez n. Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708. Hum Mutat. 2008. PMID: 18381613
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: gelvez n. 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.
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: gelvez n. 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
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: gelvez n. Genes (Basel). 2024 Jul 19;15(7):951. doi: 10.3390/genes15070951. Genes (Basel). 2024. PMID: 39062730 Free PMC article.
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: gelvez ny. 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.
Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016.
Manotas M, Sarmiento K, Ibañez-Morantes A, Suárez-Obando F, Gelvez N, López G, Ayala-Ramírez P, Angel J, Prieto J, Tamayo N, Puentes S, Rodríguez C, Tamayo ML, Zarante I. Manotas M, et al. Among authors: gelvez n. Int J Pediatr Otorhinolaryngol. 2019 Nov;126:109594. doi: 10.1016/j.ijporl.2019.109594. Epub 2019 Jul 19. Int J Pediatr Otorhinolaryngol. 2019. PMID: 31344554
25 results