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Items: 4

Select item 36540821.

The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan

Rasheeda Bashir, Ayesha Imtiaz, Amara Fatima, Afzaal Alam, Sadaf Naz

Biochem Genet. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Biochem Genet. 2013 Jun; 51(0): 350–357. Published online 2013 Jan 23. doi: 10.1007/s10528-013-9568-y

PMCID:: PMC3654082

Article PDF–577K

Select item 28333912.

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Atteeq Ur Rehman, Robert J. Morell, Inna A. Belyantseva, Shahid Y. Khan, Erich T. Boger, Mohsin Shahzad, Zubair M. Ahmed, Saima Riazuddin, Shaheen N. Khan, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2010 Mar 12; 86(3): 378–388. doi: 10.1016/j.ajhg.2010.01.030

PMCID:: PMC2833391

Article PDF–1.2M

Select item 28333763.

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

Am J Hum Genet. 2010 Mar 12; 86(3): 479–484. doi: 10.1016/j.ajhg.2010.02.003

PMCID:: PMC2833376

Article PDF–730K

Select item 27950024.

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, Nazir Ahmed, Ahmad Usman Zafar, Atteeq Ur Rehman, Robert J Morell, Andrew J Griffith, Zubair M Ahmed, Sheikh Riazuddin, Thomas B Friedman

Eur J Hum Genet. 2010 Jan; 18(1): 125–129. Published online 2009 Jul 15. doi: 10.1038/ejhg.2009.121