Génétique postnatale

Recherche :

• Anomalies du développement et syndromes malformatifs d’origine génétique
• Maladies neuromusculaires
• Vieillissement prématuré (Progeria)
• Handicaps mentaux, autisme
• Identification de nouveaux gènes et anomalies de chromosomes impliqués dans les différentes maladies génétiques
• Cardiomyopathies héréditaires

Publications :

• Auxological Evaluation in Patients with a 22q11.2 Microdeletion Syndrome: Normal Prevalence of Obesity and Neonatal Length and Gender Influence on Body Mass Index Evolution. Reynaud R et al. Horm Res Paediatr. 2011
• Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Bretelle F et al. Eur J Med Genet. 2010
• Lamin a truncation in Hutchinson-Gilford progeria. De Sandre-Giovannoli A et al. Science. 2003
• A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Krahn M, Wein N, Bartoli M, et al. Sci Transl Med. 2010
• Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome. Fabre A et al. Hum Mutat. 2010
• First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. Rouleau E et al. Clin Genet. 2011
• PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study. Familiades J et al. Leukemia. 2009