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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
- M. Abifadel, M. Varret, C. Boileau
- Biology, MedicineNature Genetics
- 1 June 2003
TLDR
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease
- B. Nordestgaard, M. J. Chapman, A. Tybjærg‐Hansen
- MedicineEuropean heart journal
- 15 August 2013
TLDR
[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].
- R. Erbel, V. Aboyans, C. Vrints
- EconomicsKardiologia polska
- 2014
TLDR
Diagnosis and management of aortic dissection.
- R. Erbel, F. Alfonso, L. Providência
- MedicineEuropean heart journal
- 1 September 2001
NARC-1/PCSK9 and Its Natural Mutants
- S. Benjannet, D. Rhainds, N. Seidah
- BiologyJournal of Biological Chemistry
- 19 November 2004
TLDR
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-Béroud, C. Boileau
- Medicine, BiologyAmerican journal of human genetics
- 1 September 2007
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset and…
UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases
- C. Béroud, G. Collod-Béroud, C. Boileau, T. Soussi, C. Junien
- Biology, Computer ScienceHuman mutation
- 1 January 2000
TLDR
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
- M. Abifadel, J. Rabès, C. Boileau
- BiologyHuman mutation
- 1 April 2009
TLDR
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial…
- M. Cuchel, E. Bruckert, M. Cuchel
- Medicine, BiologyEuropean heart journal
- 21 August 2014
TLDR
Heterozygous TGFBR2 mutations in Marfan syndrome
- T. Mizuguchi, G. Collod-Béroud, N. Matsumoto
- Medicine, BiologyNature Genetics
- 4 July 2004
TLDR
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