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catherine boileau
catherine boileau
Professeur Emérite de Génétique, Université Paris Cité, France
Verified email at aphp.fr
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Cited by
Cited by
Year
2014 ESC guidelines on the diagnosis and treatment of aortic diseases
R Erbel, V Aboyans, C Boileau, E Bossone, R Di Bartolomeo, ...
Kardiologia Polska (Polish Heart Journal) 72 (12), 1169-1252, 2014
47112014
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
35052003
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
30262013
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
17162001
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
11102014
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
9102015
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
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
6072007
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, ...
The Journal of experimental medicine 205 (7), 1543-1550, 2008
4982008
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
4062003
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
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
3912018
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
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
3192003
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
2952007
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
2792009
European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to …
BG Nordestgaard, MJ Chapman, SE Humphries, HN Ginsberg, L Masana, ...
Eur Heart J 34 (45), 3478-90a, 2013
2562013
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
2542011
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
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