A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

By Ebermann Inga   Scholl Hendrik   Charbel Issa Peter   Becirovic Elvir   Lamprecht Jürgen   Jurklies Bernhard   Millán José   Aller Elena   Mitter Diana   Bolz Hanno  

Human Genetics, Vol. 121, Iss. 2, 2007-04 ,pp. : 203-211

Springer Publishing Company

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Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

By Wayne Sigrid   Der Kaloustian Vazken M.   Schloss Melvin   Polomeno Robert   Scott Daryl A.   Hejtmancik J. Fielding   Sheffield Val C.   Smith Richard J. H.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1689-1692

Oxford University Press

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Interactions in the network of Usher syndrome type 1 proteins

By Adato Avital  

Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 347-356

Oxford University Press

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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

By Weil Dominique  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability

By Demuth Ilja  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2385-2397

Oxford University Press

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