Associated Papers
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
38711914 (PubMed )
Supplement: Table2.DOCX
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Sorusch N et al.
Human Molecular Genetics, 2017
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Ben-Rebeh I et al.
Molecular Vision, 2016
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Imtiaz F et al.
Molecular Vision, 2012
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Rizel L et al.
Molecular Vision, 2011
A frameshift mutation in SANS results in atypical Usher syndrome.
Bashir R et al.
Clinical Genetics, 2010
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Weil D et al.
Human Molecular Genetics, 2003
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