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Mitochondrial deafness.
Kokotas H, Petersen MB, Willems PJ. Kokotas H, et al. Clin Genet. 2007 May;71(5):379-91. doi: 10.1111/j.1399-0004.2007.00800.x. Clin Genet. 2007. PMID: 17489842 Review.
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.
Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB. Kokotas H, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2879-84. doi: 10.1002/ajmg.a.32546. Am J Med Genet A. 2008. PMID: 18925674
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: kokotas h. 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.
Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation.
Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. Mol Genet Metab. 2010 Jul;100(3):300-1. doi: 10.1016/j.ymgme.2010.03.016. Epub 2010 Mar 23. Mol Genet Metab. 2010. PMID: 20382059 No abstract available.
Detection of deafness-causing mutations in the Greek mitochondrial genome.
Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. Dis Markers. 2011;30(6):283-9. doi: 10.3233/DMA-2011-0786. Dis Markers. 2011. PMID: 21725156 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: kokotas h. 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.
Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB. Sarri C, et al. Among authors: kokotas h. Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964744 Review.
The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H. Petersen MB, et al. Among authors: kokotas h. Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):969-71. doi: 10.1016/j.ijporl.2012.03.007. Epub 2012 Apr 6. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22484064
Age-related macular degeneration: genetic and clinical findings.
Kokotas H, Grigoriadou M, Petersen MB. Kokotas H, et al. 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.
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB. Kokotas H, et al. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):89-94. doi: 10.1016/j.ijporl.2010.10.016. Epub 2010 Nov 5. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21056478
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