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Page 1
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
Naranjo S, Voesenek K, de la Calle-Mustienes E, Robert-Moreno A, Kokotas H, Grigoriadou M, Economides J, Van Camp G, Hilgert N, Moreno F, Alsina B, Petersen MB, Kremer H, Gómez-Skarmeta JL. Naranjo S, et al. Among authors: grigoriadou m. Hum Genet. 2010 Oct;128(4):411-9. doi: 10.1007/s00439-010-0864-x. Epub 2010 Jul 29. Hum Genet. 2010. PMID: 20668882 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.
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G. Thys M, et al. Among authors: grigoriadou m. Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213839
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. Among authors: grigoriadou m. 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
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