Faculty Opinions recommendation of Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

2004 ◽  
Author(s):  
Sue Malcolm
Keyword(s):  
Usher Syndrome ◽  
Functional Domains ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

scholarly journals Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

2004 ◽  
Vol 74 (4) ◽  
pp. 738-744 ◽  
Author(s):  
Erwin van Wijk ◽  
Ronald J.E. Pennings ◽  
Heleen te Brinke ◽  
Annemarie Claassen ◽  
Helger G. Yntema ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Functional Domains ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

2004 ◽  
Vol 79 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Babak Jian Seyedahmadi ◽  
Carlo Rivolta ◽  
Julia A. Keene ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

scholarly journals Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

2009 ◽  
Vol 54 (12) ◽  
pp. 732-738 ◽  
Author(s):  
Denise Yan ◽  
Xiaomei Ouyang ◽  
D Michael Patterson ◽  
Li Lin Du ◽  
Samuel G Jacobson ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

GIANT RETINAL TEAR IN USHER SYNDROME TYPE II

Retina ◽  
1998 ◽  
Vol 18 (2) ◽  
pp. 177 ◽  
Author(s):  
MARK T. CAHILL ◽  
PETER J. BARRY ◽  
PAUL F. KENNA
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Retinal Tear ◽  
Giant Retinal Tear ◽  
Usher Syndrome Type

Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

2001 ◽  
Vol 72 (5) ◽  
pp. 503-509 ◽  
Author(s):  
Bart P Leroy ◽  
José A Aragon-Martin ◽  
Michael D Weston ◽  
David A.R Bessant ◽  
Catherine Willis ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

scholarly journals Pseudodominance in a Czech family with Usher syndrome type II

2016 ◽  
Vol 94 ◽  
Author(s):  
B. Kousal ◽  
L. Dudakova ◽  
P. Skalicka ◽  
K. Bujakowska ◽  
P. Liskova
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Usher Syndrome Type

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II

2014 ◽  
Vol 93 (3) ◽  
pp. 837-841 ◽  
Author(s):  
KIMIA KAHRIZI ◽  
NILOOFAR BAZAZZADEGAN ◽  
LEILA JAMALI ◽  
NOOSHIN NIKZAT ◽  
ATIE KASHEF ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Iranian Family ◽  
Usher Syndrome Type
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