Home › Researcher directory › M Chaâbouni
M Chaâbouni
Affiliation : University of Sfax · Hopital Universitaire Hedi Chaker · Faculty of Medicine of Sfax
- 30Publications (affiliation in Tunisia)
- 68Total publications
- 523Citations
- 13h-index
Research profile
M Chaâbouni has 30 indexed publications (1992–2024). Their work appears mainly in “Journal of Pediatric Gastroenterology and Nutrition”, “PubMed” and “Archives de Pédiatrie”. Their most cited article, “A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree” (2009), has been cited 79 times. Their work is co-authored with at least 12 researchers, including institutions in France, United States.
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Create my free profile Add my publicationsResearch areas
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Helicobacter pylori-related gastroenterology studies
Publications (30)
- The Synergistic Effect of Intradialytic Concurrent Training and Melatonin Supplementation on Oxidative Stress and Inflammation in Hemodialysis Patients: A Double-Blind Randomized Controlled Trial
- Burkitt lymphoma in a child with Bloom syndrome
- Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
- Only two mutations detected in 15 Tunisian patients with 11β‐hydroxylase deficiency: the p.Q356X and the novel p.G379V
- FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome
- 793 Progressive Familial Intranhepatic Cholestasis with Low Gammaglutamyltransfrasis: Tunisian Experience About 45 Cases
- A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
- Analyse génétique du syndrome de Turner : étude tunisienne de 89 cas
- La mucopolysaccharidose de type I: identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes
- Y chromosome microdeletions in Tunisian infertile males
- Neuromyélite optique de Devic chez l'enfant: à propos de 1 cas, avec revue de la littérature
- [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
- Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion
- Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
- Mucopolysaccharidosis I: α‐ L ‐Iduronidase mutations in three Tunisian families
- Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients
- P0368 WILSON DISEASE: TUNISIAN PAEDIATRIC EXPERIENCE
- [Cystic fibrosis of the child].
- P1037 LARGE DOSES OF STEROIDS IN SEVERE CAUSTIC ESOPHAGITIS IN CHILDREN. A TUNISIAN MULTICENTRIC STUDY
- P0368 WILSON DISEASE: TUNISIAN PAEDIATRIC EXPERIENCE
- Mutations in BBS8 gene causes Bardet–Biedl syndrome in two Tunisian families
- P0202 PROGRESSIVE FAMILIAL INTRA HEPATIC CHOLESTASIS (PFIC) WITH LOW GAMMA GLUTAMYL- TRANS PEPTIDASE (GGT) LEVELS IN TUNISIAN INFANTS ABOUT 32 CASES
- P0394 ROLE OF ANTI‐TRANSGLUTAMINASE ANTIBODIES IN THE DIAGNOSIS OF CHILDREN COALIAC DISEASE: RESULTS OF A FIVE YEARS PROSPECTIVE STUDY
- P1037 LARGE DOSES OF STEROIDS IN SEVERE CAUSTIC ESOPHAGITIS IN CHILDREN. A TUNISIAN MULTICENTRIC STUDY
- P0202 PROGRESSIVE FAMILIAL INTRA HEPATIC CHOLESTASIS (PFIC) WITH LOW GAMMA GLUTAMYL‐ TRANS PEPTIDASE (GGT) LEVELS IN TUNISIAN INFANTS ABOUT 32 CASES
- La maladie de Gaucher en Tunisie (étude multicentrique)
- [Mucopolysaccharidoses in children. Experience of a general pediatric service. 11 cases].
- [Upper gastrointestinal hemorrhages in children: 166 cases].
- [Epidemiologic and developmental aspects of congenital cardiopathies in the Sfax pediatric service: 123 cases].
- [Role of in situ alkalinization in the treatment of obstructive uric acid lithiasis].
Publication venues
- Journal of Pediatric Gastroenterology and Nutrition × 7
- PubMed × 6
- Archives de Pédiatrie × 3
- Clinical Genetics × 3
- European Journal of Medical Genetics × 2
- Antioxidants × 1
Publications per year
- 20241
- 20161
- 20131
- 20103
- 20091
- 20081
- 20074
- 20061
- 20053
- 20049
Collaborations
Partner institutions : Hôpital Mongi Slim · Hôpital Charles-Nicolle · Faculté de médecine de Tunis · Tunis University · Hôpital Farhat Hached
Co-authors’ countries : France · United States
Co-authors
- Mongia Hachicha
- Faouzi Mâazoul
- Ridha Mrad
- Habiba Chaâbouni
- Ahmed Maherzi
- Abderrahmen Karray
- M. Ben Dridi
- Azza Harbi
- Fethi Amri
- Inès Brini
- Souad Bousnina
- Sihem Barsaoui
Bibliographic data from OpenAlex (open database).
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