الرئيسية › دليل الباحثين › Olfa Messaoud
Olfa Messaoud
الانتماء : Institut Pasteur de Tunis · Tunis El Manar University
- 55منشورات (انتماء تونسي)
- 82مجموع المنشورات
- 762الاستشهادات
- 17مؤشر h
الملف البحثي
لدى Olfa Messaoud 55 منشور(ات) مفهرسة (2009–2024). تُنشر أعماله أساسًا في «Frontiers in Genetics»، «International Journal of Dermatology» و«Gene». أكثر مقالاته استشهادًا هو «High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis» (2009)، وقد استُشهد به 53 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 فرنسا.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Genomics and Rare Diseases
- Genetic and rare skin diseases.
- DNA Repair Mechanisms
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
المنشورات (55)
- Novel and Extremely Sensitive NiAl2O4-NiO Nanostructures on an ITO Sensing Electrode for Enhanced Detection of Ascorbic Acid
- 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
- The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes
- First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation
- CVD Graphene Electrode for Direct Electrochemical Detection of Double-Stranded DNA
- When to Recommend a Peripheral Blood Smear to Patients with Congenital Ichthyosiform Erythroderma.
- Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
- Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
- Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
- FANCA Gene Mutations in North African Fanconi Anemia Patients
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
- Editorial: Monogenic vs. Oligogenic Reclassification
- Women in Science: What Are the Barriers for Women in Senior Career Positions
- Xeroderma pigmentoso
- Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
- Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk
- Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk
- A broad survey of DNA sequence data simulation tools
- Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
- Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
- 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
- Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM 1 gene
- Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency–affected Sibs
- Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
- A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
- H syndrome: Clinical, histological and genetic investigation in Tunisian patients
- Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
- Identification of a Novel Mutation ofLAMB3Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
- Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients
- Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia
- Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
- Comorbidity in the Tunisian population
- Profils cliniques et génétiques de patients atteints de xeroderma pigmentosum forme-C : à propos de 64 patients tunisiens
- Specific Aspects of Consanguinity: Some Examples from the Tunisian Population
- A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy
- A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism
- High frequency of exon 15 deletion in the FANCA gene in T unisian patients affected with F anconi anemia disease: implication for diagnosis
- Le mélanome cutané en Tunisie : un cancer sous-estimé
- Développement d’un test de diagnostic moléculaire simple pour le diagnostic moléculaire de Xeroderma pigmentosum de type variant
- Polymorphisms in the Human Cytochrome P450 and ArylamineN-Acetyltransferase: Susceptibility to Head and Neck Cancers
- Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa
- Further Evidence of Mutational Heterogeneity of theXPCGene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations
- Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients
- Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
- The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum
- A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families
- Biotinidase deficiency: Novel mutations in Algerian patients
- c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum
- Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity
- Genetic homogeneity of mutational spectrum of group‐A xeroderma pigmentosum in Tunisian patients
- Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family
- High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis
مجلات النشر
- Frontiers in Genetics × 7
- International Journal of Dermatology × 4
- Gene × 4
- Molecular Genetics & Genomic Medicine × 3
- Annales de Dermatologie et de Vénéréologie × 3
- BioMed Research International × 3
المنشورات حسب السنة
- 20243
- 20233
- 20221
- 202111
- 20202
- 20196
- 20183
- 20172
- 20161
- 20154
التعاون العلمي
المؤسسات الشريكة : Tunis University · Hôpital La Rabta · Hôpital Charles-Nicolle · Faculté de médecine de Tunis · Abderrahmane Mami Hospital
بلدان المؤلفين المشاركين : فرنسا
المؤلفون المشاركون
- Sonia Abdelhak
- Mariem Ben Rekaya
- Rym Kéfi
- M. Mokni
- Houda Yacoub‐Youssef
- Ridha Mrad
- Hamouda Boussen
- Chokri Naouali
- Lilia Romdhane
- Yosra Bouyacoub
- Mariem Chargui
- Majdi Nagara
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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