Lista de obras - Crystel Bonnet - Dominio Público Uruguay

A 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 gene

scientific article published on 25 April 2019

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

artículo científico publicado en 2017

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

artículo científico publicado en 2016

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

artículo científico publicado en 2007

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

artículo científico publicado en 2016

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

artículo científico publicado en 2013

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

artículo científico publicado en 2016

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

artículo científico publicado en 2011

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

artículo científico publicado en 2012

Discovery of a large deletion of KAL1 in 2 deaf brothers

artículo científico publicado en 2013

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

artículo científico publicado en 2016

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

artículo científico publicado en 2015

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

artículo científico publicado en 2014

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

artículo científico publicado en 2015

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

artículo científico publicado en 2017

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

artículo científico publicado en 2012

Molecular diagnosis of genetic deafness ⬇️

artículo científico publicado el 1 de mayo de 2011

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

artículo científico publicado en 2016

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

artículo científico publicado en 2008

Specific aspects of consanguinity: some examples from the Tunisian population

artículo científico publicado en 2014

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

artículo científico publicado en 2010

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

artículo científico publicado en 2014

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

artículo científico publicado en 2008

The peroxisomal import proteins PEX2, PEX5 and PEX7 are differently involved in Podospora anserina sexual cycle

artículo científico publicado en 2006

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

scientific article published on 04 June 2019

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

article

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

scientific article published on 23 November 2020

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

artículo científico publicado en 2012

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

artículo científico publicado en 2015

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

artículo científico publicado en 2014

mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein

artículo científico publicado en 2006

Lista de obras de Crystel Bonnet

A 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 gene

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

Discovery of a large deletion of KAL1 in 2 deaf brothers

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

Molecular diagnosis of genetic deafness ⬇️

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

Specific aspects of consanguinity: some examples from the Tunisian population

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

The peroxisomal import proteins PEX2, PEX5 and PEX7 are differently involved in Podospora anserina sexual cycle

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein