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Martine Devillers

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Marie Marduel; Alice Marques-Pinheiro; Patrick Nitchké; Khadija Ouguerram; Gina M Peloso; Jean-Pierre Rabès; Valérie Serre; Nathan Stitziel; Laurent Tosolini; Marianne Abifadel; catherine boileau; Dominique Bonnefont-Rousselot; Martine Devillers; Knut Erik Berge; Danièle Erlich; Jean-Philippe Jaïs; Sekar Kathiresan; Jean-Michel Lecerf; Trond Paul Leren; Gérald Luc; Mathilde Varret
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine Devillers; Gérald Luc; Michel Krempf; Yves Reznik; Jean-Philippe Girardet; Alexandre Fredenrich; Claudine Junien; Mathilde Varret; catherine boileau; Pascale Benlian; Jean-Pierre Rabès
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean CHAMBAZ; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; catherine boileau
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

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All Publications

2013: Marie Marduel; Alice Marques-Pinheiro; Patrick Nitchké; Khadija Ouguerram; Gina M Peloso; Jean-Pierre Rabès; Valérie Serre; Nathan Stitziel; Laurent Tosolini; Marianne Abifadel; catherine boileau; Dominique Bonnefont-Rousselot; Martine Devillers; Knut Erik Berge; Danièle Erlich; Jean-Philippe Jaïs; Sekar Kathiresan; Jean-Michel Lecerf; Trond Paul Leren; Gérald Luc; Mathilde Varret
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Human mutation 2013;34(1):83-7.
2005: Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine Devillers; Gérald Luc; Michel Krempf; Yves Reznik; Jean-Philippe Girardet; Alexandre Fredenrich; Claudine Junien; Mathilde Varret; catherine boileau; Pascale Benlian; Jean-Pierre Rabès
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Human mutation 2005;26(5):497.
2003: Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean CHAMBAZ; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; catherine boileau
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Nature genetics 2003;34(2):154-6.
2001: Jean-Christophe Fournet; C Mayaud; Pascale de Lonlay; MS Gross-Morand; Virginie Verkarre; M Castanet; Martine Devillers; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
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.
The American journal of pathology 2001;158(6):2177-84.
2000: Jean-Pierre Rabès; Mathilde Varret; Martine Devillers; Philippe AEGERTER; Ludovic Villéger; Michel Krempf; Claudine Junien; catherine boileau
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(10):E76-82.
2000: B Saint-Jore; Mathilde Varret; Christiane Dachet; Jean-Pierre Rabès; Martine Devillers; Danièle Erlich; P Blanchard; Michel Krempf; D Mathé; Bernard Chanu; Bernard Jacotot; Michel Farnier; C Bonaïti-Péllié; Claudine Junien; catherine boileau
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
European journal of human genetics : EJHG 2000;8(8):621-30.
1999: Mathilde Varret; Jean-Pierre Rabès; B Saint-Jore; Ana Cenarro; J C Marinoni; Fernando Civeira; Martine Devillers; Michel Krempf; M Coulon; Rochelle Thiart; Maritha J Kotze; H Schmidt; J C Buzzi; Gerhard Kostner; Stefano Bertolini; Miguel Pocovi; A Rosa; Michel Farnier; M Martinez; Claudine Junien; catherine boileau
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
American journal of human genetics 1999;64(5):1378-87.
1998: Virginie Verkarre; Jean-Christophe Fournet; Pascale de Lonlay; MS Gross-Morand; Martine Devillers; Jacques Rahier; Francis Brunelle; Jean-Jacques Robert; Claire Nihoul-Fékété; Jean-Marie Saudubray; Claudine Junien
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
The Journal of clinical investigation 1998;102(7):1286-91.