Stéphane Zaffran

Affiliations: 
INSERM U910, U1251 Université Aix-Marseille 
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"Stéphane Zaffran"
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Bernheim S, Borgel A, Le Garrec JF, et al. (2023) Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells. Developmental Cell
Odelin G, Faucherre A, Marchese D, et al. (2023) Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish. Nature Communications. 14: 1543
Petolat E, Theron A, Resseguier N, et al. (2023) Prognostic value of forward flow indices in primary mitral regurgitation due to mitral valve prolapse. Frontiers in Cardiovascular Medicine. 10: 1076708
Jaouadi H, Jopling C, Bajolle F, et al. (2023) Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD. Journal of Translational Medicine. 21: 160
Zaffran S, Kraoua L, Jaouadi H. (2023) Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy. International Journal of Molecular Sciences. 24
Jaouadi H, Theron A, Norscini G, et al. (2023) Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Molecular Medicine Reports. 27
Jaouadi H, Théron A, Hourdain J, et al. (2022) Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse. International Journal of Molecular Sciences. 23
Lin X, Swedlund B, Ton MN, et al. (2022) Mesp1 controls the chromatin and enhancer landscapes essential for spatiotemporal patterning of early cardiovascular progenitors. Nature Cell Biology. 24: 1114-1128
Kraoua L, Jaouadi H, Allouche M, et al. (2022) Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome. Molecular Genetics & Genomic Medicine. 10: e1954
Jaouadi H, Gérard H, Théron A, et al. (2022) Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease. Journal of Human Genetics
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