Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus …
…, GK Hovingh, PT Kovanen, C Boileau… - European heart …, 2013 - academic.oup.com
Aims The first aim was to critically evaluate the extent to which familial hypercholesterolaemia
(FH) is underdiagnosed and undertreated. The second aim was to provide guidance for …
(FH) is underdiagnosed and undertreated. The second aim was to provide guidance for …
[PDF][PDF] Diagnosis and management of aortic dissection: task force on aortic dissection, European society of cardiology
Finally, the document was distributed for correction and endorsement to all members and
intermittently reviewed for consistency by internal reviewers. An effort was made to include all …
intermittently reviewed for consistency by internal reviewers. An effort was made to include all …
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the …
Aims Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition
characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (…
characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (…
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
… We are indebted to the family members for their cooperation and to C. Mugnier for expert
assistance in computing the statistics. This work was supported by grants from Progrès-Institut …
assistance in computing the statistics. This work was supported by grants from Progrès-Institut …
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart
disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated …
disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated …
Heterozygous TGFBR2 mutations in Marfan syndrome
…, Y Furukawa, Y Nakamura, N Niikawa, C Boileau… - Nature …, 2004 - nature.com
… PCR conditions were 35 cycles of 95 C for 30 s, 50 C for 30 s and 72 C for 30 s in a 50-μl
mixture, containing 1× PCR buffer with 1.5 mM MgCl 2 , 0.2 mM each dNTP, 1 μM each primer …
mixture, containing 1× PCR buffer with 1.5 mM MgCl 2 , 0.2 mM each dNTP, 1 μM each primer …
[HTML][HTML] NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol
… Boileau and J. Davignon, personal communication.T. … We also show that although NARC-1
does not contain a P-domain, its C-terminal Cys/His-rich domain is important for efficient …
does not contain a P-domain, its C-terminal Cys/His-rich domain is important for efficient …
[PDF][PDF] Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international …
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 …
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …
Cartilage in normal and osteoarthritis conditions
J Martel-Pelletier, C Boileau, JP Pelletier… - Best practice & research …, 2008 - Elsevier
… the C-propeptide is removed by procollagen-C-protease (BMP1). Two forms of type II
procollagen can be generated. Type IIA procollagen, which possesses a variable region, is mostly …
procollagen can be generated. Type IIA procollagen, which possesses a variable region, is mostly …
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
…, L Janniere, C Fieschi, JL Stéphan, C Boileau… - The Journal of …, 2008 - rupress.org
The cytokines controlling the development of human interleukin (IL) 17–producing T helper
cells in vitro have been difficult to identify. We addressed the question of the development of …
cells in vitro have been difficult to identify. We addressed the question of the development of …