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Page 1
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M. Yan D, et al. Among authors: grati m. Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25. Hum Genet. 2016. PMID: 27344577 Free PMC article.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Among authors: grati m. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 Free PMC article.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Ben Said M, Grati M, Ishimoto T, Zou B, Chakchouk I, Ma Q, Yao Q, Hammami B, Yan D, Mittal R, Nakamichi N, Ghorbel A, Neng L, Tekin M, Shi XR, Kato Y, Masmoudi S, Lu Z, Hmani M, Liu X. Ben Said M, et al. Among authors: grati m. Hum Genet. 2016 May;135(5):513-524. doi: 10.1007/s00439-016-1657-7. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023905 Free PMC article.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N, Yan D, Baanannou A, Mittal R, Driss N, Blanton S, Farooq A, Lu Z, Liu XZ, Masmoudi S. Grati M, et al. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18. Hum Mol Genet. 2015. PMID: 25601850 Free PMC article.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. Diaz-Horta O, et al. Among authors: grati m. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. Proc Natl Acad Sci U S A. 2014. PMID: 24958875 Free PMC article.
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Among authors: grati m. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
67 results