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

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

2005 ◽  
Vol 10 (2) ◽  
pp. 79-89 ◽  
Author(s):  
R.F. Plantinga ◽  
L. Kleemola ◽  
P.L.M. Huygen ◽  
T. Joensuu ◽  
E.-M. Sankila ◽  
...  
Keyword(s):  
Speech Recognition ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type

R101: 11 Novel Mutations in Patients with Usher Syndrome Type II

2007 ◽  
Vol 137 (2_suppl) ◽  
pp. P185-P185
Author(s):  
Michael Patterson ◽  
Xiaomei Ouyang ◽  
Li L Du ◽  
Samuel Jacobson ◽  
Denise Yan ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Novel Mutations ◽  
Usher Syndrome Type

A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

Genomics ◽  
2000 ◽  
Vol 63 (3) ◽  
pp. 409-416 ◽  
Author(s):  
Tarja Joensuu ◽  
Riikka Hämäläinen ◽  
Anna-Elina Lehesjoki ◽  
Albert de la Chapelle ◽  
Eeva-Marja Sankila
Keyword(s):  
Critical Region ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type

Usher syndrome type III (USH3): The clinical manifestations in 42 patients

1995 ◽  
Vol 20 (4) ◽  
pp. 141-150 ◽  
Author(s):  
Leenamaija Pakarinen ◽  
Eeva-Marja Sankila ◽  
Kaija Tuppurainen ◽  
Seppo Karjalainen ◽  
Kääriäinen Helena
Keyword(s):  
Usher Syndrome ◽  
Clinical Manifestations ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type

Usher Syndrome Type III Can Mimic other Types of Usher Syndrome

2003 ◽  
Vol 112 (6) ◽  
pp. 525-530 ◽  
Author(s):  
Ronald J. E. Pennings ◽  
August F. Deutman ◽  
Randall R. Fields ◽  
William J. Kimberling ◽  
Patrick L. M. Huygen ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Vestibular Function ◽  
Hearing Impaired ◽  
The Other ◽  
Type I ◽  
Syndrome Type ◽  
Genetic Characteristics ◽  
Type Iii ◽  
Usher Syndrome Type

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

scholarly journals Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

2010 ◽  
Vol 47 (7) ◽  
pp. 499-506 ◽  
Author(s):  
T. L. McGee ◽  
B. J. Seyedahmadi ◽  
M. O. Sweeney ◽  
T. P. Dryja ◽  
E. L. Berson
Keyword(s):  
Retinitis Pigmentosa ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Ii ◽  
Novel Mutations ◽  
Usher Syndrome Type

The ophthalmological course of Usher syndrome type III

1995 ◽  
Vol 19 (5) ◽  
pp. 307-311 ◽  
Author(s):  
Leenamaija Pakarinen ◽  
Kaija Tuppurainen ◽  
Pekka Laippala ◽  
Maija M�ntyj�rvi ◽  
Heikki Puhakka
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type

scholarly journals Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

1998 ◽  
Vol 35 (8) ◽  
pp. 666-667 ◽  
Author(s):  
P Gasparini ◽  
A De Fazio ◽  
A I Croce ◽  
P Stanziale ◽  
L Zelante
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Italian Family ◽  
Usher Syndrome Type

scholarly journals Impairment of Vision in a Mouse Model of Usher Syndrome Type III

2016 ◽  
Vol 57 (3) ◽  
pp. 866 ◽  
Author(s):  
Guilian Tian ◽  
Richard Lee ◽  
Philip Ropelewski ◽  
Yoshikazu Imanishi
Keyword(s):  
Mouse Model ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type
Sign in / Sign up

Export Citation Format

Share Document