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Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
Menendez I, Carranza C, Herrera M, Marroquin N, Foster J 2nd, Cengiz FB, Bademci G, Tekin M. Menendez I, et al. Among authors: cengiz fb. Clin Case Rep. 2017 Feb 8;5(4):376-379. doi: 10.1002/ccr3.761. eCollection 2017 Apr. Clin Case Rep. 2017. PMID: 28396750 Free PMC article.
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M. Yan D, et al. Among authors: cengiz fb. Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25. Hum Genet. 2016. PMID: 27344577 Free PMC article.
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan M, Blanton SH, Tekin M. Bademci G, et al. Among authors: cengiz fb. Sci Rep. 2016 Aug 26;6:31622. doi: 10.1038/srep31622. Sci Rep. 2016. PMID: 27562378 Free PMC article.
Novel EYA1 variants causing Branchio-oto-renal syndrome.
Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S, Maroofian R, Carrera-Gonzalez A, Montufar-Armendariz S, Paredes R, Elcioglu N, Menendez I, Behnam M, Foster J 2nd, Guo S, Escarfuller S, Cengiz FB, Duman D, Bademci G, Tekin M. Klingbeil KD, et al. Among authors: cengiz fb. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:59-63. doi: 10.1016/j.ijporl.2017.04.037. Epub 2017 Apr 26. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28583505 Free PMC article.
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB, Yilmazer R, Olgun L, Sennaroglu L, Kirazli T, Alper H, Olgun Y, Incesulu A, Atik T, Huesca-Hernandez F, Domínguez-Aburto J, González-Rosado G, Hernandez-Zamora E, Arenas-Sordo ML, Menendez I, Orhan KS, Avci H, Mahdieh N, Bonyadi M, Foster J 2nd, Duman D, Ozkinay F, Blanton SH, Bademci G, Tekin M. Cengiz FB, et al. Int J Pediatr Otorhinolaryngol. 2017 Oct;101:167-171. doi: 10.1016/j.ijporl.2017.08.006. Epub 2017 Aug 8. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28964290 Free PMC article.
SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. Tekin M, et al. Among authors: cengiz fb. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543054 Free PMC article.
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M. Bademci G, et al. Among authors: cengiz fb. Genet Med. 2016 Apr;18(4):364-71. doi: 10.1038/gim.2015.89. Epub 2015 Jul 30. Genet Med. 2016. PMID: 26226137 Free PMC article.
35 results