Open AccessJournal Article
Dystrophia retinae pigmentosa--dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome.
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This article is published in Journal de génétique humaine.The article was published on 1970-05-01 and is currently open access. It has received 84 citations till now. The article focuses on the topics: Usher Syndrome Type 1 & Consanguinity.read more
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Journal ArticleDOI
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Zubair M. Ahmed,Saima Riazuddin,S. L. Bernstein,Zahoor Ahmed,Shaheen N. Khan,Andrew J. Griffith,Robert J. Morell,Thomas B. Friedman,Sheikh Riazuddin,Edward R. Wilcox +9 more
TL;DR: Two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F are reported, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.
Journal ArticleDOI
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
TL;DR: Estimates of prevalence obtained using registry data and statistics from Louisiana clearly suggest that the previous estimate of 2.4 per 100,000 is too low for the United States.
Journal ArticleDOI
USHER SYNDROME: From Genetics to Pathogenesis
TL;DR: In the inner ear, the USH1 genes, I propose, are involved in the same signaling pathway, which may control development and/or maintenance of the hair bundles of sensory cells via an adhesion force at the junctions between these cells and supporting cells and at the level of the lateral links that interconnect the stereocilia.
Journal ArticleDOI
The Finnish population structure. A genetic and genealogical study.
TL;DR: The distribution of both polymorphic and rare marker genes in the Finnish rural population showed evidence of the effect of genetic drift maintained by national and local isolation, and great differences were observed both at community and village level, which indicate that the breeding unit has been small up to the present time.
Journal ArticleDOI
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
Pranav Dinesh Mathur,Jun Yang +1 more
TL;DR: This review focuses on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH.
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