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Martine Devillers

French Institute of Health and Medical Research

15

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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

2013 Human Mutation
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Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

2010 Human Mutation
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LOCALISATION OF A FIFTH GENE INVOLVED IN AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA

2008 Atherosclerosis Supplements
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PCSK9 FROM GENE AND VARIANTS TO PROTEIN AND PHENOTYPE

2008 Atherosclerosis Supplements
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A PCSK9 variant and familial combined hyperlipidaemia

2008 Journal of Medical Genetics
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Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

2005 Human Mutation
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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

2003 Nature Genetics
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Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism

2001 American Journal of Pathology
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Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

2001 American Journal of Pathology
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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

1998 Journal of Clinical Investigation
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Citations (254)