Concepedia

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Faiqa Imtiaz, Khalid Taibah, Ghada BinKhamis, Shelley Kennedy, Amal Hemidan, Faisal Saeed Al-Qahtani, Khalid F. Tabbara, Bashayer Al Mubarak, Khushnooda Ramzan, Brian F. Meyer,

PubMed · 2012 · 10 citations · 25 references

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Abstract

In addition to reporting a novel truncating mutation, this report expands the retinal phenotype in USH1G and presents the first report of successful cochlear implants in this disease.

References

25

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Tama Hasson, Matthew B. Heintzelman, Joseph Santos‐Sacchi et al. · Proceedings of the National Academy of Sciences · 1995 · 430 citations · Full text

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Dominique Weil, Polonca Küssel, Stéphane Blanchard et al. · Nature Genetics · 1997 · 423 citations

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

Dominique Weil · Human Molecular Genetics · 2003 · 286 citations

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer et al. · Genetics in Medicine · 2010 · 268 citations · Full text

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