M
M. Chaabouni
Researcher at Necker-Enfants Malades Hospital
Publications - 41
Citations - 455
M. Chaabouni is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 12, co-authored 36 publications receiving 415 citations.
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Journal ArticleDOI
Testis development in the absence of SRY: Chromosomal rearrangements at SOX9 and SOX3
Annalisa Vetro,Mohammadreza Dehghani,Lilia Kraoua,Roberto Giorda,Silvana Beri,Laura Cardarelli,Maurizio Merico,Emmanouil Manolakos,Alexis Parada-Bustamante,Andrea Castro,Orietta Radi,Giovanna Camerino,Alfredo Brusco,Marjan Sabaghian,Crystalena Sofocleous,Francesca Forzano,Pietro Palumbo,Orazio Palumbo,Savino Calvano,Leopoldo Zelante,Paola Grammatico,Sabrina Giglio,Mohamed Basly,M. Chaabouni,Massimo Carella,Gianni Russo,Maria Clara Bonaglia,Orsetta Zuffardi +27 more
TL;DR: Collectively in this cohort of 19 novel cases of SRY-negative 46,XX DSD, the duplications upstream of SOX9 account for ~10.5% of the cases, and are responsible for the disease phenotype, even when inherited from a normal father.
Journal ArticleDOI
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.
N. Smaoui,M. Chaabouni,Yuri V. Sergeev,Habib Kallel,Shouling Li,Neila Mahfoudh,Faouzi Maazoul,Hassen Kammoun,Najoua Gandoura,Asma Bouaziz,Ezzedine Nouiri,Ridha Mrad,Habiba Chaabouni,J. Fielding Hejtmancik +13 more
TL;DR: All families in which mutations were identified show changes in both copies of the mutant gene, and inheritance patterns in all families are consistent with autosomal recessive inheritance excluding any evidence of triallelism in the BBS genes in Tunisia.
Journal ArticleDOI
Prenatal diagnosis of chromosome disorders in Tunisian population.
Habiba Chaabouni,M. Chaabouni,Faouzi Maazoul,Ridha Mrad,Lamia Ben Jemaa,Nizar Smaoui,Khaled Terras,Hassen Kammoun,Neila Belghith,Hana Ridene,Boujemaa Oueslati,Faouzia Zouari +11 more
TL;DR: The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders the authors have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia.
Journal ArticleDOI
MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever
Habiba Chaabouni,Mohamed Ksantini,Ridha Mrad,Maher Kharrat,M. Chaabouni,Faouzi Maazoul,Zouhair Bahloul,Lamia Ben Jemaa,Fatma Ben Moussa,Taoufik Ben Chaabane,Skander Mrad,Isabelle Touitou,Nizar Smaoui +12 more
TL;DR: The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences.
Journal Article
Incidence of mucopolysaccharidoses in Tunisia.
Ben Turkia H,Neji Tebib,Hatem Azzouz,Mohamed Slim Abdelmoula,Ben Chehida A,Jalel Chemli,Kamel Monastiri,M. Chaabouni,Sanhagi H,Béchir Zouari,Neziha Kaabachi,Ben Dridi Mf +11 more
TL;DR: The reported frequency of all types of MPS in Tunisia is underestimated, and it is likely that the number of cases reported is likely to be underestimated.