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Mathilde Varret
Mathilde Varret
INSERM U1148
E-mail confirmado em inserm.fr
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Ano
Heart disease and stroke statistics—2017 update: a report from the American Heart Association
EJ Benjamin, MJ Blaha, SE Chiuve, M Cushman, SR Das, R Deo, ...
circulation 135 (10), e146-e603, 2017
170912017
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
M Abifadel, M Varret, JP Rabès, D Allard, K Ouguerram, M Devillers, ...
Nature genetics 34 (2), 154-156, 2003
35072003
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol
S Benjannet, D Rhainds, R Essalmani, J Mayne, L Wickham, W Jin, ...
Journal of Biological Chemistry 279 (47), 48865-48875, 2004
7922004
Heterozygous TGFBR2 mutations in Marfan syndrome
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ...
Nature genetics 36 (8), 855-860, 2004
7902004
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
C Boileau, DC Guo, N Hanna, ES Regalado, D Detaint, L Gong, M Varret, ...
Nature genetics 44 (8), 916-921, 2012
3952012
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
M Abifadel, JP Rabès, M Devillers, A Munnich, D Erlich, C Junien, ...
Human mutation 30 (4), 520-529, 2009
3212009
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
D Allard, S Amsellem, M Abifadel, M Trillard, M Devillers, G Luc, M Krempf, ...
Human mutation 26 (5), 497-497, 2005
2522005
Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations in PCSK9
K Ouguerram, M Chetiveaux, Y Zair, P Costet, M Abifadel, M Varret, ...
Arteriosclerosis, thrombosis, and vascular biology 24 (8), 1448-1453, 2004
2362004
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34. 1-p32
M Varret, JP Rabes, B Saint-Jore, A Cenarro, JC Marinoni, F Civeira, ...
The American journal of human genetics 64 (5), 1378-1387, 1999
2351999
Genetic heterogeneity of autosomal dominant hypercholesterolemia
M Varret, M Abifadel, JP Rabès, C Boileau
Clinical genetics 73 (1), 1-13, 2008
2272008
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections
M Barbier, MS Gross, M Aubart, N Hanna, K Kessler, DC Guo, L Tosolini, ...
The American Journal of Human Genetics 95 (6), 736-743, 2014
1402014
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia
M Abifadel, M Guerin, S Benjannet, JP Rabès, W Le Goff, Z Julia, ...
Atherosclerosis 223 (2), 394-400, 2012
1392012
The UMD‐LDLR database: additions to the software and 490 new entries to the database
L Villéger, M Abifadel, D Allard, JP Rabès, R Thiart, MJ Kotze, C Béroud, ...
Human mutation 20 (2), 81-87, 2002
1382002
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
M Marduel, K Ouguerram, V Serre, D Bonnefont‐Rousselot, ...
Human mutation 34 (1), 83-87, 2013
1372013
Molecular spectrum of autosomal dominant hypercholesterolemia in France
M Marduel, A Carrié, A Sassolas, M Devillers, V Carreau, M Di Filippo, ...
Human mutation 31 (11), E1811-E1824, 2010
1362010
LDLR Database: new additions to the database and the software, and results of the first molecular analysis
M Varret, JP Rabés, R Thiart, MJ Kotze, H Baron, A Cenarro, O Descamps, ...
Nucleic acids research 26 (1), 248-252, 1998
1201998
Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs
M Abifadel, S Elbitar, P El Khoury, Y Ghaleb, M Chémaly, ML Moussalli, ...
Current atherosclerosis reports 16, 1-23, 2014
1172014
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene
M Abifadel, JP Rabès, S Jambart, G Halaby, MH Gannagé‐Yared, ...
Human mutation 30 (7), E682-E691, 2009
1082009
Methods for detecting the presence of or predisposition to autosomal dominant hypercholesterolemia
M Abi Fadel, C Boileau, JP Rabes, NG Seidah, M Varret
US Patent 7,300,754, 2007
1052007
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
CP Diggle, DA Parry, CV Logan, P Laissue, C Rivera, CM Restrepo, ...
Human mutation 33 (8), 1175-1181, 2012
1032012
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