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Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Abifadel M, et al. Among authors: chanu b. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network; Boileau C, Varret M, Rabès JP. Marduel M, et al. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 Free PMC article.
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C. Saint-Jore B, et al. Among authors: chanu b. Eur J Hum Genet. 2000 Aug;8(8):621-30. doi: 10.1038/sj.ejhg.5200516. Eur J Hum Genet. 2000. PMID: 10952765
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD. Hopkins PN, et al. Among authors: chanu b. Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi: 10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15. Circ Cardiovasc Genet. 2015. PMID: 26374825 Free PMC article. Clinical Trial.
[Methods for screening and biological diagnosis of dyslipidemia in primary prevention - January 2000].
Sicard D, Chanu B, Badoc G, Beucler I, Chauvenet M, Clavel J, Cocaul-André M, Denolle T, Desson J, Ducimetière P, Farnier M, Fontbonne A, Gautier J, Hoog-Labouret N, Janowski M, Krempf M, Le Goaziou M, Marechaud M, Mottier D, Ribier A, Signeyrole D, Veyssier-Belot C, Mlika-Cabanne N; Agence Nationale d'Accréditation et d'Evaluation en Santé. Sicard D, et al. Among authors: chanu b. Ann Endocrinol (Paris). 2001 Feb;62(1 Pt 1):77-82. Ann Endocrinol (Paris). 2001. PMID: 11240408 French. No abstract available.
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