The Genomic Structure of the Gene Defective in Usher Syndrome Type Ib (MYO7A)

Genomics ◽  
1997 ◽  
Vol 40 (1) ◽  
pp. 73-79 ◽  
Author(s):  
Philip M. Kelley ◽  
Mike D. Weston ◽  
Zheng-Yi Chen ◽  
Dana J. Orten ◽  
Tama Hasson ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type

scholarly journals Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

2002 ◽  
Vol 71 (3) ◽  
pp. 607-617 ◽  
Author(s):  
Randall R. Fields ◽  
Guimei Zhou ◽  
Dali Huang ◽  
Jack R. Davis ◽  
Claes Möller ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Novel Mutations ◽  
Type Iii ◽  
Usher Syndrome Type

scholarly journals Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

2000 ◽  
Vol 66 (4) ◽  
pp. 1199-1210 ◽  
Author(s):  
M.D. Weston ◽  
J.D. Eudy ◽  
S. Fujita ◽  
S.-F. Yao ◽  
S. Usami ◽  
...  
Keyword(s):  
Genomic Structure ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Novel Mutations ◽  
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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