Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

2021 ◽  
Author(s):  
M. Stemerdink ◽  
B. García-Bohórquez ◽  
R. Schellens ◽  
G. Garcia-Garcia ◽  
E. Van Wijk ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type

scholarly journals Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2

2018 ◽  
Vol 33 ◽  
pp. 247-250 ◽  
Author(s):  
Carla Sanjurjo-Soriano ◽  
Nejla Erkilic ◽  
Gaël Manes ◽  
Gregor Dubois ◽  
Christian P. Hamel ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Ipsc Line ◽  
Human Ipsc ◽  
Usher Syndrome Type

GPR98 mutations cause Usher syndrome type 2 in males

2009 ◽  
Vol 46 (4) ◽  
pp. 277-280 ◽  
Author(s):  
I Ebermann ◽  
M H J Wiesen ◽  
E Zrenner ◽  
I Lopez ◽  
R Pigeon ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type

scholarly journals Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

2005 ◽  
Vol 14 (24) ◽  
pp. 3933-3943 ◽  
Author(s):  
Jan Reiners ◽  
Erwin van Wijk ◽  
Tina Märker ◽  
Ulrike Zimmermann ◽  
Karin Jürgens ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Scaffold Protein ◽  
Syndrome Type ◽  
Usher Syndrome Type

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

2006 ◽  
Vol 121 (2) ◽  
pp. 203-211 ◽  
Author(s):  
Inga Ebermann ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Elvir Becirovic ◽  
Jürgen Lamprecht ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Usher Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Novel Gene ◽  
Usher Syndrome Type

Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews

2008 ◽  
Vol 12 (2) ◽  
pp. 289-294 ◽  
Author(s):  
Noa Auslender ◽  
Dikla Bandah ◽  
Leah Rizel ◽  
Doron M. Behar ◽  
Mordechai Shohat ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Ashkenazi Jews ◽  
Founder Mutations ◽  
Usher Syndrome Type
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