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Non-USH2A mutations in USH2 patients

author

Thomas Besnard

David Baux

published in: Human Mutation

date of publication: 2012-01-06

Cites articles 20

Date

Title

Authors

2011-09-30

Audiological findings in 100 USH2 patients.

David Baux, Thomas Besnard
2011-03-29

A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats
2011-10-03

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
2011-06-08

Four-year follow-up of diagnostic service in USH1 patients

David Baux, Thomas Besnard, Brigitte Gilbert-Dussardier, Didier Lacombe, Dominique Bonneau, Umberto Ambrosetti
2010-06

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Peter Nürnberg, Gudrun Nürnberg, Bernhard Schermer, Thomas Benzing, Monte Westerfield, Max Christoph Liebau, Mireille Claustres, Robert Koenekoop
2010-08-01

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

Michael S. Hildebrand, Edwin M. Stone, Richard J Smith
2010-03-01

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

David Baux, Andreas Janecke, Mireille Claustres, Sylvie Tuffery-Giraud
2009-10-27

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Seza Özen
2009-04-01

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Christophe Beroud, Mireille Claustres, Gwenaëlle Collod-Béroud
2009-02-01

Update on Usher syndrome

Maria Bitner-Glindzicz, Zubin Saihan, Linda M Luxon
2008-01-01

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

Erwin van Wijk, Hannie Kremer
2007-08-01

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Brigitte Gilbert-Dussardier
2007-02-12

Functional analysis of splicing mutations in exon 7 of NF1 gene

Bruno Dallapiccola, Stefano Calvieri, Cristina Gervasini, Antonio Pizzuti, Alessandro De Luca, Irene Bottillo, Annalisa Schirinzi, Isabella Torrente
2007-06-01

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

Christine Petit, Jérémie Barral, Nicolas Michalski, Amel Bahloul, Hideshi Yagi
2006-12-15

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

Peter Charbel Issa, Elvir Becirovic, Diana Mitter, Hendrik Scholl
2006-09

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
2006-03-01

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Ronald Roepman, Uwe Wolfrum, Marlies Knipper, Tina Märker, Erwin van Wijk, Hannie Kremer, Frans P M Cremers
2004-02

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
2004-01-01

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.
2001-01-01

Usher syndrome: from genetics to pathogenesis.

Article - wd:Q82838044

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