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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessEPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeMutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessThe CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsEPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing lossOptimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsSpecific aspects of consanguinity: some examples from the Tunisian population.A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.Discovery of a large deletion of KAL1 in 2 deaf brothers.FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.The peroxisomal import proteins PEX2, PEX5 and PEX7 are differently involved in Podospora anserina sexual cycle.CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndromeA Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 geneThe spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Crystel Bonnet
@ast
Crystel Bonnet
@en
Crystel Bonnet
@es
Crystel Bonnet
@sl
type
label
Crystel Bonnet
@ast
Crystel Bonnet
@en
Crystel Bonnet
@es
Crystel Bonnet
@sl
prefLabel
Crystel Bonnet
@ast
Crystel Bonnet
@en
Crystel Bonnet
@es
Crystel Bonnet
@sl
P106
P21
P31
P496
0000-0002-1916-9119