Martine Devillers

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Life Sciences, Genetics, Molecular Genetics +10

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

Virginie Verkarre, Jean‐Christophe Fournet, Pascale de Lonlay et al. · Journal of Clinical Investigation · 1998 · 290 citations · Full text

Medicine, Endocrinology, Genetics +17

Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

Delphine Allard, Sabine Amsellem, Marianne Abifadel et al. · Human Mutation · 2005 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Mathilde Varret, Jean‐Pierre Rabès, Bruno Saint-Jore et al. · The American Journal of Human Genetics · 1999 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Marie Marduel, Khadija Ouguerram, Valérie Serre et al. · Human Mutation · 2012 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16