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USHER SYNDROME, TYPE IB (disorder)

Known as: USH1B, USHER SYNDROME, TYPE IB 
National Institutes of Health

Related topics

Related topics

3 relations
MYO7A, ARG212HISMYO7A, CYS31TER

Broader (1)

Usher Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies
Usher’s syndrome is the most common combined blindness–deafness disorder with USH1B, caused by mutations in MYO7A, resulting in… 
Highly Cited
2009
Highly Cited
2009
Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.
PURPOSE Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy… 
Highly Cited
2008
Highly Cited
2008
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading… 
2005
2005
Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients
Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish… 
1999
1999
Hearing impairment related to age in Usher syndrome types 1B and 2A.
OBJECTIVE To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A. DESIGN Cross… 
1999
1999
Analysis of DNA elements that modulate myosin VIIA expression in humans
Usher syndrome�Ib (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by… 
1998
1998
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and… 
1998
1998
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers
Usher syndrome (US) is clinically and genetically a heterogeneous group of disorders characterized by the association of deafness… 
1997
1997
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders.
We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type 1 (USH1B) in a large Samaritan… 
Highly Cited
1996
Highly Cited
1996
Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.
The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound… 
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