الرئيسية › دليل الباحثين › Christine Petit
Christine Petit
الانتماء : Centre National de la Recherche Scientifique · Inserm · Institut Pasteur · Collège de France · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Fondation Pour l'Audition · Institut de l'Audition
- 52منشورات (انتماء فرنسي)
- 511مجموع المنشورات
- 32579الاستشهادات
- 100مؤشر h
الملف البحثي
لدى Christine Petit 52 منشور(ات) مفهرسة (1994–2026). تُنشر أعماله أساسًا في «International Journal of Pediatric Otorhinolaryngology»، «PLoS ONE» و«Molecular Biology Reports». أكثر مقالاته استشهادًا هو «Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene» (1997)، وقد استُشهد به 633 مرة. 7 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.
هل هذا أنت؟ عرّف بأبحاثك
أنشئ ملفك على DzCademia مجانًا وأضف مقالاتك: ستظهر بسهولة أكبر على Google وفي مساعدي الذكاء الاصطناعي مثل ChatGPT، فيقرؤها ويستشهد بها عدد أكبر من الناس.
إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Hearing, Cochlea, Tinnitus, Genetics
- Congenital Ear and Nasal Anomalies
- Hearing Loss and Rehabilitation
- Genetic and Kidney Cyst Diseases
- Vestibular and auditory disorders
المنشورات (52)
- 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
- 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
- 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
- Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis
- 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
- 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
- Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
- 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
- Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1
- Refined mapping of the autosomal recessive non‐syndromic deafness locus DFNB13 using eight novel microsatellite markers
- Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1
- Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
- From DFNB2 to Usher syndrome: Variable expressivity of the same disease
- Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE: Figure 1
- Mutations ofGJB2in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
- A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2
- Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
- The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
- Mutation Profile of All 49 Exons of the Human Myosin VIIA Gene, and Haplotype Analysis, in Usher 1B Families from Diverse Origins
- Deficits héréditaires de l'audition chez l'enfant
- A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
- A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
مجلات النشر
- International Journal of Pediatric Otorhinolaryngology × 6
- PLoS ONE × 4
- Molecular Biology Reports × 3
- Human Heredity × 3
- European Journal of Human Genetics × 3
- Nature Genetics × 3
المنشورات حسب السنة
- 20261
- 20252
- 20244
- 20233
- 20221
- 20211
- 20202
- 20195
- 20186
- 20171
التعاون العلمي
المؤسسات الشريكة : Université Pierre-et-Marie-Curie · Institut de la Vision · Sorbonne Université · Hôpital Armand-Trousseau · Institut Pasteur du Maroc
بلدان المؤلفين المشاركين : تونس · المغرب · المملكة المتحدة
المؤلفون المشاركون
- Crystel Bonnet
- Zied Riahi
- Jean‐Pierre Hardelin
- Dominique Weil
- Malek Louha
- Stéphane Blanchard
- Jacqueline Levilliers
- Sébastien Chardenoux
- Fabrice Giraudet
- Sandrine Marlin
- Sophie Boucher
- Catherine Dodé
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
لماذا تختارون Dzcademia؟
ملفات أكاديمية ومقالات ومداخلات علمية: امنحوا أبحاثكم حضوراً عاماً منظماً. تساعد البيانات الوصفية المدمجة محركات البحث ومساعدات الذكاء الاصطناعي على التعرف على أعمالكم وفهم مراجعها.
علّق عبر Google
سجّل الدخول عبر Google للتعليق مباشرة على هذه الصفحة.