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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: grigoriadou m. 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.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M. Sirmaci A, et al. Among authors: grigoriadou m. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451170 Free PMC article.
Sudden hearing loss in a family with GJB2 related progressive deafness.
Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S. Kokotas H, et al. Among authors: grigoriadou m. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1735-40. doi: 10.1016/j.ijporl.2008.08.006. Epub 2008 Sep 21. Int J Pediatr Otorhinolaryngol. 2008. PMID: 18809215
Age-related macular degeneration: genetic and clinical findings.
Kokotas H, Grigoriadou M, Petersen MB. Kokotas H, et al. Among authors: grigoriadou m. Clin Chem Lab Med. 2011 Apr;49(4):601-16. doi: 10.1515/CCLM.2011.091. Epub 2010 Dec 23. Clin Chem Lab Med. 2011. PMID: 21175380 Review.
54 results