Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type I

2000 ◽  
Vol 71 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Amitabh K Bharadwaj ◽  
Joseph P Kasztejna ◽  
Syed Huq ◽  
Eliot L Berson ◽  
Thaddeus P Dryja
Keyword(s):  
Visual Function ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

scholarly journals Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

2010 ◽  
Vol 19 (18) ◽  
pp. 3557-3565 ◽  
Author(s):  
Amel Bahloul ◽  
Vincent Michel ◽  
Jean-Pierre Hardelin ◽  
Sylvie Nouaille ◽  
Sylviane Hoos ◽  
...  
Keyword(s):  
Ternary Complex ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Membrane Phospholipids ◽  
Myosin Viia ◽  
Cadherin 23 ◽  
Usher Syndrome Type

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

1999 ◽  
Vol 13 (2) ◽  
pp. 133-140 ◽  
Author(s):  
Andreas R. Janecke ◽  
Moritz Meins ◽  
Mojy Sadeghi ◽  
Kathrin Grundmann ◽  
Eckart Apfelstedt-Sylla ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Myosin Viia ◽  
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 Evidence for a fourth locus in Usher syndrome type I.

1996 ◽  
Vol 33 (1) ◽  
pp. 77-79 ◽  
Author(s):  
S Gerber ◽  
D Larget-Piet ◽  
J M Rozet ◽  
D Bonneau ◽  
M Mathieu ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Usher Syndrome Type

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25

2002 ◽  
Vol 110 (4) ◽  
pp. 348-350 ◽  
Author(s):  
Mirna Mustapha ◽  
Éliane Chouery ◽  
Delphine Torchard-Pagnez ◽  
Sylvie Nouaille ◽  
Awni Khrais ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Usher Syndrome Type

Localization of two genes for usher syndrome type I to chromosome 11

Genomics ◽  
1992 ◽  
Vol 14 (4) ◽  
pp. 995-1002 ◽  
Author(s):  
Richard J.H. Smith ◽  
Elizabeth C. Lee ◽  
William J. Kimberling ◽  
Stephen P. Daiger ◽  
Mary Z. Pelias ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Chromosome 11 ◽  
Usher Syndrome Type

scholarly journals MYO7A mutation screening in Usher syndrome type I patients from diverse origins

2006 ◽  
Vol 44 (3) ◽  
pp. e71-e71 ◽  
Author(s):  
T Jaijo ◽  
E Aller ◽  
M Beneyto ◽  
C Najera ◽  
C Graziano ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Usher Syndrome Type

Long-term ophthalmic health care in Usher Syndrome type I from an ICF perspective

2009 ◽  
Vol 31 (15) ◽  
pp. 1283-1292 ◽  
Author(s):  
Kerstin Möller ◽  
Kristina Eriksson ◽  
André M. Sadeghi ◽  
Claes Möller ◽  
Berth Danermark
Keyword(s):  
Health Care ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Usher Syndrome Type
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