Seuraa
catherine boileau
catherine boileau
Professeur Emérite de Génétique, Université Paris Cité, France
Vahvistettu sähköpostiosoite verkkotunnuksessa aphp.fr
Nimike
Viittaukset
Viittaukset
Vuosi
2014 ESC guidelines on the diagnosis and treatment of aortic diseases
R Erbel, V Aboyans, C Boileau, E Bossone, R Di Bartolomeo, ...
Polish Heart Journal (Kardiologia Polska) 72 (12), 1169-1252, 2014
51462014
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
36582003
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of …
BG Nordestgaard, MJ Chapman, SE Humphries, HN Ginsberg, L Masana, ...
European heart journal 34 (45), 3478-3490, 2013
32022013
Diagnosis and management of aortic dissection: task force on aortic dissection, European society of cardiology
R Erbel, F Alfonso, C Boileau, O Dirsch, B Eber, A Haverich, H Rakowski, ...
European heart journal 22 (18), 1642-1681, 2001
17592001
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on …
M Cuchel, E Bruckert, HN Ginsberg, FJ Raal, RD Santos, RA Hegele, ...
European heart journal 35 (32), 2146-2157, 2014
11912014
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
A Wiegman, SS Gidding, GF Watts, MJ Chapman, HN Ginsberg, M Cuchel, ...
European heart journal 36 (36), 2425-2437, 2015
9872015
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
8172004
Heterozygous TGFBR2 mutations in Marfan syndrome
T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ...
Nature genetics 36 (8), 855-860, 2004
8092004
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
6352007
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
L de Beaucoudrey, A Puel, O Filipe-Santos, A Cobat, P Ghandil, ...
Journal of Experimental Medicine 205 (7), 1543-1550, 2008
5142008
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
PA Juge, JS Lee, E Ebstein, H Furukawa, E Dobrinskikh, S Gazal, ...
New England Journal of Medicine 379 (23), 2209-2219, 2018
4652018
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
G Collod‐Béroud, S Le Bourdelles, L Ades, L Ala‐Kokko, P Booms, ...
Human mutation 22 (3), 199-208, 2003
4242003
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
4112012
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
3312009
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
L Faivre, RJ Gorlin, MK Wirtz, M Godfrey, N Dagoneau, JR Samples, ...
Journal of medical genetics 40 (1), 34-36, 2003
3262003
C57BL/6J and A/J mice fed a high‐fat diet delineate components of metabolic syndrome
C Gallou‐Kabani, A Vigé, MS Gross, JP Rabès, C Boileau, ...
Obesity 15 (8), 1996-2005, 2007
3142007
Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
D Attias, C Stheneur, C Roy, G Collod-Béroud, D Detaint, L Faivre, ...
Circulation 120 (25), 2541-2549, 2009
2842009
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection
M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ...
Journal of the American College of Cardiology 72 (6), 605-615, 2018
2732018
Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis
Y Allanore, M Saad, P Dieudé, J Avouac, JHW Distler, P Amouyel, ...
PLoS genetics 7 (7), e1002091, 2011
2682011
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
2542005
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Artikkelit 1–20