PMC Articles for MedGen (Select 462004) - PMC

Select item 28504341.

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

Margit Schraders, Jaap Oostrik, Patrick L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P.M. Kunst, Lies H. Hoefsloot, Cor W.R.J. Cremers, Ronald J.C. Admiraal, Hannie Kremer

Am J Hum Genet. 2010 Apr 9; 86(4): 604–610. doi: 10.1016/j.ajhg.2010.02.015

PMCID:: PMC2850434

Article PDF–657K

Select item 59936722.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

Tobias Eisenberger, Nataliya Di Donato, Christian Decker, Andrea Delle Vedove, Christine Neuhaus, Gudrun Nürnberg, Mohammad Toliat, Peter Nürnberg, Dirk Mürbe, Hanno Jörn Bolz

Genet Med. 2018 Jun; 20(6): 614–621. Published online 2017 Oct 12. doi: 10.1038/gim.2017.155

PMCID:: PMC5993672

Article PDF–1.2M

Select item 44418683.

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

Naoko Sakuma, Hideaki Moteki, Hela Azaiez, Kevin T Booth, Masahiro Takahashi, Yasuhiro Arai, A Eliot Shearer, Christina M Sloan, Shin-ya Nishio, Diana L Kolbe, Satoshi Iwasaki, Nobuhiko Oridate, Richard J H Smith, Shin-ichi Usami

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 184S–192S. Published online 2015 Mar 18. doi: 10.1177/0003489415575041

PMCID:: PMC4441868

Article PDF–825K

Select item 34871394.

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, Julia Dallman, Mingqian Huang, Theo A. Peters, Asli Sirmaci, Na Lu, Margit Schraders, Isaac Skromne, Jaap Oostrik, Oscar Diaz-Horta, Juan I. Young, Suna Tokgoz-Yilmaz, Ozlem Konukseven, Hashem Shahin, Lisette Hetterschijt, Moien Kanaan, Anne M.M. Oonk, Yvonne J.K. Edwards, Huawei Li, Semra Atalay, Susan Blanton, Alexandra A. DeSmidt, Xue-Zhong Liu, Ronald J.E. Pennings, Zhongmin Lu, Zheng-Yi Chen, Hannie Kremer, Mustafa Tekin

Am J Hum Genet. 2012 Nov 2; 91(5): 872–882. doi: 10.1016/j.ajhg.2012.09.011

PMCID:: PMC3487139

Article PDF–1.1M

Select item 29872505.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King, Moien Kanaan

Eur J Hum Genet. 2010 Apr; 18(4): 407–413. Published online 2009 Nov 4. doi: 10.1038/ejhg.2009.190

PMCID:: PMC2987250

Article PDF–544K

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