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Items: 4

Select item 57654421.

Novel recessive PDZD7 biallelic mutations in two Chinese families with non‐syndromic hearing loss

Jing Guan, Hongyang Wang, Lan Lan, Li Wang, Ju Yang, Linyi Xie, Zifang Yin, Wenping Xiong, Lidong Zhao, Dayong Wang, Qiuju Wang

Am J Med Genet A. 2018 Jan; 176(1): 99–106. Published online 2017 Oct 19. doi: 10.1002/ajmg.a.38477

PMCID:: PMC5765442

Abstract Article PDF–2.5M

Select item 47412802.

PDZD7 and hearing loss: more than just a modifier

Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Allen C Simpson, William TA Tollefson, Christina M Sloan, Nicole C Meyer, Mojgan Babanejad, Fariba Ardalani, Sanaz Arzhangi, Michael J Schnieders, Hossein Najmabadi, Richard JH Smith

Am J Med Genet A. Author manuscript; available in PMC 2016 Feb 4.

Published in final edited form as: Am J Med Genet A. 2015 Dec; 167(12): 2957–2965. Published online 2015 Sep 29. doi: 10.1002/ajmg.a.37274

PMCID:: PMC4741280

Abstract Article PDF–968K

Select item 39763343.

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

Junhuang Zou, Tihua Zheng, Chongyu Ren, Charles Askew, Xiao-Ping Liu, Bifeng Pan, Jeffrey R. Holt, Yong Wang, Jun Yang

Hum Mol Genet. 2014 May 1; 23(9): 2374–2390. Published online 2013 Dec 11. doi: 10.1093/hmg/ddt629

PMCID:: PMC3976334

Abstract Article PDF–3.1M

Select item 28779304.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma Lopez, Ellen Schäfer, Anne-Francoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz

J Clin Invest. 2010 Jun 1; 120(6): 1812–1823. Published online 2010 May 3. doi: 10.1172/JCI39715