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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 3
2012 8
2013 4
2014 6
2015 6
2016 3
2019 2
2020 1
2024 0

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30 results

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Page 1
Next-generation sequencing in genetic hearing loss.
Yan D, Tekin M, Blanton SH, Liu XZ. Yan D, et al. Genet Test Mol Biomarkers. 2013 Aug;17(8):581-7. doi: 10.1089/gtmb.2012.0464. Epub 2013 Jun 5. Genet Test Mol Biomarkers. 2013. PMID: 23738631 Free PMC article. Review.
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. 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.
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Atik T, Koparir A, Bademci G, Foster J 2nd, Altunoglu U, Mutlu GY, Bowdin S, Elcioglu N, Tayfun GA, Atik SS, Ozen M, Ozkinay F, Alanay Y, Kayserili H, Thiel S, Tekin M. Atik T, et al. Orphanet J Rare Dis. 2015 Sep 30;10:128. doi: 10.1186/s13023-015-0345-3. Orphanet J Rare Dis. 2015. PMID: 26419238 Free PMC article.
Evidence for genotype-phenotype correlation for OTOF mutations.
Yildirim-Baylan M, Bademci G, Duman D, Ozturkmen-Akay H, Tokgoz-Yilmaz S, Tekin M. Yildirim-Baylan M, et al. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):950-3. doi: 10.1016/j.ijporl.2014.03.022. Epub 2014 Mar 28. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24746455 Free PMC article.
GPSM2 mutations in Chudley-McCullough syndrome.
Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. Diaz-Horta O, et al. Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987632 Free PMC article. No abstract available.
Similar phenotypes caused by mutations in OTOG and OTOGL.
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ. Oonk AM, et al. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Ear Hear. 2014. PMID: 24378291 Free PMC article.
Unique spectrum of GJB2 mutations in Mexico.
de la Luz Arenas-Sordo M, Menendez I, Hernández-Zamora E, Sirmaci A, Gutiérrez-Tinajero D, McGetrick M, Murphy-Ruiz P, Leyva-Juárez X, Huesca-Hernández F, Dominguez-Aburto J, Tekin M. de la Luz Arenas-Sordo M, et al. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1678-80. doi: 10.1016/j.ijporl.2012.08.005. Epub 2012 Aug 24. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22925408
30 results