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4 results on '"Bahat, Elif"'

1. Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Author

Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, van der Zwaag, Bert, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Çaylan, Refik, Li, Yun, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., and Kremer, Hannie

Published
2008
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2. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment of DFNB35

Author

Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, Zwaag, Bert van der, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Caylan, Refik, Yun Li, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., and Kremer, Hannie

Subjects
Hearing disorders -- Genetic aspects, Consanguinity -- Health aspects, Gene mutations -- Health aspects, Biological sciences
Abstract

The mapping of autosomal-recessive nonsyndromic hearing impairment segregated in a large consanguineous family of Turkish origin to chromosome 14q24.3-q34.12 is described. It is indicated that ESRRB is essential for inner-ear development and function.

Published
2008

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