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- Publications
- Influence
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
- M. Abifadel, M. Varret, +23 authors C. Boileau
- Biology, Medicine
- Nature Genetics
- 1 June 2003
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated… Expand
[2014 ESC Guidelines on the diagnosis and treatment of aortic diseases].
- R. Erbel, V. Aboyans, +19 authors C. Vrints
- Medicine
- Kardiologia polska
- 2014
Authors/Task Force members: Raimund Erbel* (Chairperson) (Germany), Victor Aboyans* (Chairperson) (France), Catherine Boileau (France), Eduardo Bossone (Italy), Roberto Di Bartolomeo (Italy), Holger… Expand
Diagnosis and management of aortic dissection.
- R. Erbel, F. Alfonso, +12 authors L. Providência
- Medicine
- European heart journal
- 1 September 2001
NARC-1/PCSK9 and Its Natural Mutants
- S. Benjannet, D. Rhainds, +17 authors N. Seidah
- Medicine, Chemistry
- Journal of Biological Chemistry
- 19 November 2004
The discovery of autosomal dominant hypercholesterolemic patients with mutations in the PCSK9 gene, encoding the proprotein convertase NARC-1, resulting in the missense mutations suggested a role in… Expand
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, Medicine
- Human mutation
- 1 January 2000
The human genome is thought to contain about 80,000 genes and presently only 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome will be… Expand
Diagnosis and management of aortic dissection - Recommendations of the Task Force on Aortic Dissection, European Society of Cardiology
- R. Erbel, F. Alfonso, +12 authors L. Providência
- Economics
- 2001
Page Preamble ..................................................................1642 Introduction.............................................................1643 Aortic wall… Expand
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
- L. Faivre, R. Gorlin, +8 authors V. Cormier-Daire
- Biology, Medicine
- Journal of medical genetics
- 1 January 2003
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia… Expand
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders
- G. Mátyás, Eliane Arnold, +4 authors B. Steinmann
- Biology, Medicine
- Human mutation
- 1 August 2006
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys‐Dietz aortic aneurysm syndrome (LDS). In… Expand
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
- G. Collod-Béroud, S. Le Bourdelles, +19 authors C. Boileau
- Biology, Medicine
- Human mutation
- 1 September 2003
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome… Expand
Genetic heterogeneity of autosomal dominant hypercholesterolemia
- M. Varret, M. Abifadel, J-P Rabès, C. Boileau
- Biology, Medicine
- Clinical genetics
- 19 November 2007
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of plasmatic low‐density lipoprotein cholesterol associated with high risk of premature cardiovascular… Expand