الرئيسية › دليل الباحثين › Crystel Bonnet
Crystel Bonnet
الانتماء : Centre National de la Recherche Scientifique · Inserm · Institut Pasteur · Université Paris Cité · Fondation Pour l'Audition · Institut de l'Audition
- 41منشورات (انتماء فرنسي)
- 105مجموع المنشورات
- 2717الاستشهادات
- 26مؤشر h
الملف البحثي
لدى Crystel Bonnet 41 منشور(ات) مفهرسة (2013–2026). تُنشر أعماله أساسًا في «International Journal of Pediatric Otorhinolaryngology»، «PLoS ONE» و«Molecular Biology Reports». أكثر مقالاته استشهادًا هو «FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases» (2017)، وقد استُشهد به 95 مرة. 8 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في تونس، المغرب، المملكة المتحدة.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Hearing, Cochlea, Tinnitus, Genetics
- Retinal Development and Disorders
- Congenital Ear and Nasal Anomalies
- Genetic and Kidney Cyst Diseases
- Hearing Loss and Rehabilitation
المنشورات (41)
- Genetic diversity of Usher syndrome in Moroccan patients
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity
- Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
- Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
- Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
- Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family
- Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
- Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
- Screening of BRCA1/2 variants in Mauritanian breast cancer patients
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
- Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
- Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
- A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene
- ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis
- Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
- The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions
- Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province
- A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family
- A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
- Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome
- Diversity of the genes involved in Algerian families with hearing loss identified by whole exome sequencing
- FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
- A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
- Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
- Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
- Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
- A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family
- Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing
- EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
- Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients
- The CD2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells
- EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
- Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness
- Specific Aspects of Consanguinity: Some Examples from the Tunisian Population
- Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
- A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families
مجلات النشر
- International Journal of Pediatric Otorhinolaryngology × 8
- PLoS ONE × 4
- Molecular Biology Reports × 3
- Human Heredity × 3
- Frontiers in Genetics × 2
- The American Journal of Human Genetics × 2
المنشورات حسب السنة
- 20261
- 20252
- 20245
- 20233
- 20222
- 20211
- 20202
- 20195
- 20185
- 20172
التعاون العلمي
المؤسسات الشريكة : Université Pierre-et-Marie-Curie · Institut de la Vision · Collège de France · Sorbonne Université · Assistance Publique – Hôpitaux de Paris
بلدان المؤلفين المشاركين : تونس · المغرب · المملكة المتحدة
المؤلفون المشاركون
- Christine Petit
- Zied Riahi
- Jean‐Pierre Hardelin
- Malek Louha
- Fabrice Giraudet
- Sophie Boucher
- Guy Lenaers
- Christel Condroyer
- Christina Zeitz
- Amel Bahloul
- Ghita Amalou
- Souad Gherbi
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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