Domaine de Maîtrise :
Biopathologie et Recherche Biomédicale

Domaine d’intérêt :
Recherche Clinique, Sciences Humaines - Sociales - Juridiques et Economiques, Biopathologie et Recherche Biomédicale**, Nouvelles Technologies - Ingénierie - Systèmes d’Information et IA

Les publications :
1: Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A. Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. PLoS One. 2013;8(1):e54791. doi: 10.1371/journal.pone.0054791. Epub 2013 Jan 30. PubMed PMID: 23382970; PubMed Central PMCID: PMC3559822. 2: Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, Aboura A. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A. 2010 Jan;152A(1):111-7. doi: 10.1002/ajmg.a.33164. PubMed PMID: 20034071. 3: Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet. 2009 Dec;85(6):916-22. doi: 10.1016/j.ajhg.2009.11.005. PubMed PMID: 20004766; PubMed Central PMCID: PMC2790567. 4: Rifai L, Maazouzi W, Sefiani A. Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. Cardiol Young. 2007 Feb;17(1):107-9. Epub 2006 Dec 22. PubMed PMID: 17184575.