Kokotas H - Search Results

1

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. J Hum Genet. 2010 May;55(5):265-9. doi: 10.1038/jhg.2010.23. Epub 2010 Mar 19. J Hum Genet. 2010. PMID: 20300122 Review.

2

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.

3

Clinical and molecular aspects of aniridia.

Kokotas H, Petersen MB. Kokotas H, et al. Clin Genet. 2010 May;77(5):409-20. doi: 10.1111/j.1399-0004.2010.01372.x. Epub 2010 Jan 6. Clin Genet. 2010. PMID: 20132240 Review.

4

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. 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

5

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

6

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Papadopoulou E, Neou P, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. Biochem Biophys Res Commun. 2009 Dec 18;390(3):755-7. doi: 10.1016/j.bbrc.2009.10.044. Epub 2009 Oct 14. Biochem Biophys Res Commun. 2009. PMID: 19835846

7

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

Kokotas H, Grigoriadou M, Hatzaki A, Antoniadi T, Giannoulia-Karantana A, Petersen MB. Kokotas H, et al. Genet Test Mol Biomarkers. 2010 Apr;14(2):189-92. doi: 10.1089/gtmb.2009.0136. Genet Test Mol Biomarkers. 2010. PMID: 20059378

8

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB. Kokotas H, et al. Genet Test Mol Biomarkers. 2010 Apr;14(2):183-7. doi: 10.1089/gtmb.2009.0146. Genet Test Mol Biomarkers. 2010. PMID: 20073550

9

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

10

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.

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