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Usher Syndrome, Type IF

Known as: USH1F 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceRetinitis Pigmentosa

Broader (1)

Usher Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
In-frame exon skipping fails to rescue retinal or hair cell defects in zebrafish models of PCDH15 (USH1F)
2016
2016
Preclinical testing of a therapy for the R245X mutation of PCDH15 (USH1F)
2012
2012
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I
Purpose PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of… 
2012
2012
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I
Purpose To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I. Methods… 
2003
2003
The molecular genetics of Usher syndrome
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the… 
Review
2002
Review
2002
Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.
Cadherins are Ca2+-binding, transmembrane proteins involved in cell adhesion. Recently, three cadherin molecules, cadherin-23… 
Review
2000
Review
2000
Histopathologic features of the temporal bone in usher syndrome type I.
Temporal bones of 2 patients with Usher syndrome type I were examined using light microscopy. In both patients, findings from… 
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