scholarly journals Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type�IIA

2020 ◽  
Author(s):  
Jiewen Fu ◽  
Jingliang Cheng ◽  
Qi Zhou ◽  
Md. Asaduzzaman Khan ◽  
Chengxia Duan ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Usher Syndrome Type

scholarly journals Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Satomi Okano ◽  
Yoshio Makita ◽  
Akihiro Katada ◽  
Yasuaki Harabuchi ◽  
Tomohiro Kohmoto ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Compound Heterozygous ◽  
Type I ◽  
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 Impacts of Usher Syndrome Type IB Mutations on Human Myosin VIIa Motor Function†

Biochemistry ◽  
2008 ◽  
Vol 47 (36) ◽  
pp. 9505-9513 ◽  
Author(s):  
Shinya Watanabe ◽  
Nobuhisa Umeki ◽  
Reiko Ikebe ◽  
Mitsuo Ikebe
Keyword(s):  
Motor Function ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Myosin Viia ◽  
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
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