A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family

2017 ◽  
Vol 99 ◽  
pp. 40-43 ◽  
Author(s):  
Xiaoguang He ◽  
Qi Peng ◽  
Siping Li ◽  
Pengyuan Zhu ◽  
Chunqiu Wu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Usher Syndrome ◽  
Chinese Family ◽  
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

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

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 Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

2016 ◽  
Vol 61 (5) ◽  
pp. 419-422 ◽  
Author(s):  
Hidekane Yoshimura ◽  
Maiko Miyagawa ◽  
Kozo Kumakawa ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Dna Sequencing ◽  
Usher Syndrome ◽  
Massively Parallel ◽  
Deaf Children ◽  
Syndrome Type ◽  
Massively Parallel Dna Sequencing ◽  
Usher Syndrome Type

Usher Syndrome Type 1: Genotype–Phenotype Relationships

Retina ◽  
2005 ◽  
Vol 25 (Supplement) ◽  
pp. S40-S42 ◽  
Author(s):  
THOMAS B. FRIEDMAN ◽  
JULIE M. SCHULTZ ◽  
ZUBAIR M. AHMED
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type
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