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A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II
Journal of Genetics
◽
10.1007/s12041-014-0443-3
◽
2014
◽
Vol 93
(3)
◽
pp. 837-841
◽
Cited By ~ 3
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
Download Full-text
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Cited By
References
Current understanding of usher syndrome type II
Frontiers in Bioscience
◽
10.2741/3979
◽
2012
◽
Vol 17
(1)
◽
pp. 1165
◽
Cited By ~ 14
Author(s):
Jun Yang
Keyword(s):
Usher Syndrome
◽
Current Understanding
◽
Syndrome Type
◽
Type Ii
◽
Usher Syndrome Type
Download Full-text
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type�II
Molecular Medicine Reports
◽
10.3892/mmr.2019.10728
◽
2019
◽
Author(s):
Le Wang
◽
Bo Wei
◽
Xueqi Fu
◽
Yuchen Wang
◽
Yuan Sui
◽
...
Keyword(s):
Usher Syndrome
◽
Syndrome Type
◽
Type Ii
◽
Usher Syndrome Type
Download Full-text
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
Experimental Eye Research
◽
10.1016/j.exer.2004.03.005
◽
2004
◽
Vol 79
(2)
◽
pp. 167-173
◽
Cited By ~ 56
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
Download Full-text
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2017.10.022
◽
2018
◽
Vol 104
◽
pp. 10-13
◽
Cited By ~ 4
Author(s):
Daniz Kooshavar
◽
Masoumeh Razipour
◽
Morteza Movasat
◽
Mohammad Keramatipour
Keyword(s):
Next Generation Sequencing
◽
Novel Mutation
◽
Usher Syndrome
◽
Syndrome Type
◽
Next Generation
◽
Targeted Next Generation Sequencing
◽
Generation Sequencing
◽
Usher Syndrome Type
Download Full-text
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
Journal of Human Genetics
◽
10.1038/jhg.2009.107
◽
2009
◽
Vol 54
(12)
◽
pp. 732-738
◽
Cited By ~ 17
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
Download Full-text
GIANT RETINAL TEAR IN USHER SYNDROME TYPE II
Retina
◽
10.1097/00006982-199818020-00016
◽
1998
◽
Vol 18
(2)
◽
pp. 177
◽
Cited By ~ 9
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
Download Full-text
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2017.05.021
◽
2017
◽
Vol 99
◽
pp. 40-43
◽
Cited By ~ 1
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
Download Full-text
Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II
Experimental Eye Research
◽
10.1006/exer.2000.0978
◽
2001
◽
Vol 72
(5)
◽
pp. 503-509
◽
Cited By ~ 27
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
Download Full-text
Pseudodominance in a Czech family with Usher syndrome type II
Acta Ophthalmologica
◽
10.1111/j.1755-3768.2016.0367
◽
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
Download Full-text
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.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1018327.209417
◽
2004
◽
Author(s):
Sue Malcolm
Keyword(s):
Usher Syndrome
◽
Functional Domains
◽
Syndrome Type
◽
Type Ii
◽
Usher Syndrome Type
Download Full-text
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