Abifadel, Marianne

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Abifadel, M., Varret, M., Rabès, J.-P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., et al. (2003) · Nature Genetics

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 2,985

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

National Heart, L., Boileau, C., Guo, D.-C., Hanna, N., Regalado, E. S., Detaint, D., Gong, L., Varret, M., Prakash, S. K., Li, A. H., et al. (2012) · Nature Genetics

Connective tissue disorders researchAortic Disease and Treatment Approaches

Cited by 382

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

Marduel, M., Ouguerram, K., Serre, V., Bonnefont-Rousselot, D., Marques-Pinheiro, A., Erik Berge, K., Devillers, M., Luc, G., Lecerf, J.-M., Tosolini, L., et al. (2013) · Human Mutation

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 133

Molecular spectrum of autosomal dominant hypercholesterolemia in France

Marduel, M., Carrié, A., Sassolas, A., Devillers, M., Carreau, V., Di Filippo, M., Erlich, D., Abifadel, M., Marques-Pinheiro, A., Munnich, A., et al. (2010) · Human Mutation

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 115

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

Abifadel, M., Rabès, J.-P., Jambart, S., Halaby, G., Gannagé-Yared, M.-H., Sarkis, A., Beaino, G., Varret, M., Salem, N., Corbani, S., et al. (2009) · Human Mutation

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 99

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

The French Research Network on ADH, Marques-Pinheiro, A., Marduel, M., Rabès, J.-P., Devillers, M., Villéger, L., Allard, D., Weissenbach, J., Guerin, M., Zair, Y., et al. (2010) · European Journal of Human Genetics

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 38

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

Abou Khalil, Y., Marmontel, O., Ferrières, J., Paillard, F., Yelnik, C., Carreau, V., Charrière, S., Bruckert, E., Gallo, A., Giral, P., et al. (2022) · International Journal of Molecular Sciences

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 21