الرئيسية › دليل الباحثين › Ridha Mrad
Ridha Mrad
الانتماء : Tunis University · Hôpital Charles-Nicolle · Faculté de médecine de Tunis · Tunis El Manar University
- 110منشورات (انتماء تونسي)
- 145مجموع المنشورات
- 1451الاستشهادات
- 19مؤشر h
الملف البحثي
لدى Ridha Mrad 110 منشور(ات) مفهرسة (2006–2026). تُنشر أعماله أساسًا في «Pediatric Nephrology»، «European Journal of Medical Genetics» و«Frontiers in Genetics». أكثر مقالاته استشهادًا هو «A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree» (2009)، وقد استُشهد به 79 مرة. 16 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا، الولايات المتحدة، ألمانيا، هولندا.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- Genetic and rare skin diseases.
المنشورات (110)
- First Detection of 1p36 Deletion by Whole‐Exome Sequencing in a Tunisian Patient
- Prevalence and Spectrum of Chromosomal Abnormalities in 1366 Infertile Tunisian Men: A retrospective observational study
- Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence
- Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity
- Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia
- Pharmacoepigenetics of autism spectrum disorder
- Genome Tunisia Project: paving the way for precision medicine in North Africa
- Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system
- Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy
- 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
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patient
- Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
- Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 variants associated with a severe phenotype in a patient
- Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature
- Phenotype Spectrum in Tunisian Population with NPHP1 Deletion
- Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center
- Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report
- Hyperoxalurie primitive de type 1: Particularités cliniques, génétiques et évolutive chez l’enfant Tunisien.
- Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
- Pathologic complete response to neoadjuvant imatinib of a gastric stromal tumor with concomitant mutations in KIT : A case report and literature review
- Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT)
- Cowden Syndrome Complicated with Thyroid Lesion: A Pediatric Case Report
- Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry
- Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome
- Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
- 3M syndrome: A Tunisian seven-cases series
- Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
- Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
- Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis
- Particularités épidémiologiques, cliniques et évolutives de l’acidose tubulaire distale primitive chez l’enfant tunisien
- 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
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- Mandibuloacral dysplasia type A in five tunisian patients
- In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome
- A rare cause of hypertension in an 11-year-old boy: Answers
- Identification of Novel BRCA1 Germline Deleterious Variant Among a Tunisian Family
- A rare cause of hypertension in an 11-year-old boy: Questions
- Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
- Le syndrome de Kabuki : étude clinique d’une série de 23 patients tunisiens
- Le syndrome Wolf–Hirschhorn : à propos de 9 cas
- Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
- Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients
- 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
- Findings of Whole-Exome Sequencing in a Tunisian Man with Congenital Anomalies of Kidney and Ureteral Tract and Dilated Cardiomyopathy
- Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
- A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
- Lithiase urinaire héréditaire : expérience d’un service de néphrologie
- Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
- Pharmacoepigenetics of Autism Spectrum Disorder
- Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
- Autism throughout genetics: Perusal of the implication of ion channels
- Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
- TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
- 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
- In vitrofunctional characterization of the novelDHHmutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
- WDR73-related galloway mowat syndrome with collapsing glomerulopathy
- Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation
- Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome
- Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients
- Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis
- Protein partners of the calcium channel β subunit highlight new cellular functions
- Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer
- Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism
- Néphronophtise : étude clinique histologique et génétique
- Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
- Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome
- Perinatal-lethal Gaucher disease presenting as hydrops fetalis
- Syndrome d’Angelman : aspects cliniques, électro-encéphalographiques et évolutifs
- Syndrome de Rubinstein–Taybi et trouble de spectre de l’autisme : à propos d’un cas
- Profils cliniques et génétiques de patients atteints de xeroderma pigmentosum forme-C : à propos de 64 patients tunisiens
- Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
- Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child
- Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients
- Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
- GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness
- Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy
- Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population
- Detection of a Frequent Duplicated CYP21A2 Gene Carrying a Q318X Mutation in a General Population With Quantitative PCR Methods
- Only two mutations detected in 15 Tunisian patients with 11β‐hydroxylase deficiency: the p.Q356X and the novel p.G379V
- Exploring the 7p22.1 Chromosome as a Candidate Region for Autism
- Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations
- FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome
- A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
- The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain
- The Tunisian population history through the Crigler–Najjar type I syndrome
- Analyse génétique du syndrome de Turner : étude tunisienne de 89 cas
- De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder
- Déficit en GH par interruption de la tige pituitaire dans l’anémie de Fanconi
- Homocystéinurie à révélation tardive : aspect clinique, biologique et évolutif
- Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome
- MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever
- Y chromosome microdeletions in Tunisian infertile males
- Myalgies au cours d’une fièvre méditerranéenne familiale
- Screening of the Eight BBS Genes in Tunisian Families: No Evidence of Triallelism
- Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.
مجلات النشر
- Pediatric Nephrology × 4
- European Journal of Medical Genetics × 4
- Frontiers in Genetics × 3
- Research Square × 3
- Annales d Endocrinologie × 3
- Clinical Genetics × 3
المنشورات حسب السنة
- 20263
- 20254
- 20249
- 20238
- 20228
- 202112
- 20204
- 20195
- 20189
- 20173
التعاون العلمي
المؤسسات الشريكة : Institut Pasteur de Tunis · Hôpital La Rabta · Military Hospital of Tunis · Abderrahmane Mami Hospital · University of Monastir
بلدان المؤلفين المشاركين : فرنسا · الولايات المتحدة · ألمانيا · هولندا
المؤلفون المشاركون
- Faouzi Mâazoul
- Sonia Abdelhak
- Médiha Trabelsi
- Lilia Kraoua
- Habiba Chaâbouni
- Maher Kharrat
- Olfa Messaoud
- Lamia Ben Jemâa
- Inès Ouertani
- Mariem Ben Rekaya
- Tahar Gargah
- Yosr Hamdi
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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