43 Papers
320 Citations
Ridha Mrad is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 12, co-authored 35 publications.
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Papers
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
Frédéric Laumonnier,Sébastien Roger,P. Guérin,Florence Molinari,Ridha Mrad,Dominique Cahard,Ahlem Belhadj,Mohamed Halayem,Antonio M. Persico,Maurizio Elia,Valentino Romano,Sébastien Holbert,Christian R. Andres,H. Chaabouni,Laurence Colleaux,Jacques Constant,Jean Yves Le Guennec,Sylvain Briault +17 more
TL;DR: Results suggest a possible association between a functional defect of the BK(Ca) channel and autistic disorder and raise the hypothesis that deficits in synaptic transmission may contribute to the physiopathology of autism and mental deficiency.
183
A Homozygous Splice Mutation in the HSF4 Gene Is Associated With an Autosomal Recessive Congenital Cataract
N. Smaoui,O. Beltaief,Sonia Benhamed,Ridha Mrad,Faouzi Maazoul,Ouertani A,Habiba Chaabouni,J. Fielding Hejtmancik +7 more
TL;DR: This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22 and the first description of HSF 4 splice variants in the lens showing that HSF3b is the major transcript.
115
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Maher Kharrat,Véronique Tardy,Ridha Mrad,Faouzi Maazoul,Lamia Ben Jemaa,Mohamed Refai,Yves Morel,Habiba Chaabouni +7 more
TL;DR: The results have shown a good genotype/phenotype correlation in the case of most mutations, and the first report of screening for mutations of 21-hydroxylase gene in the Tunisian population and even in the Arab population.
94
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.
41
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.
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