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

scholarly journals Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e97808 ◽  
Author(s):  
Weining Rong ◽  
Xue Chen ◽  
Kanxing Zhao ◽  
Yani Liu ◽  
Xiaoxing Liu ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type

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 Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2

2012 ◽  
Vol 75 ◽  
pp. 60-70 ◽  
Author(s):  
Ana Fakin ◽  
Martina Jarc-Vidmar ◽  
Damjan Glavač ◽  
Crystel Bonnet ◽  
Christine Petit ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Function ◽  
Fundus Autofluorescence ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Optical Coherence ◽  
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

Usher syndrome type 1: Early detection of electroretinographic changes

2009 ◽  
Vol 13 (6) ◽  
pp. 505-507 ◽  
Author(s):  
Roberto Flores-Guevara ◽  
Francis Renault ◽  
Natalie Loundon ◽  
Sandrine Marlin ◽  
Béatrice Pelosse ◽  
...  
Keyword(s):  
Early Detection ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type
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