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Page 1
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.
Marques-Pinheiro A, Levasseur R, Cormier C, Bonneau J, Boileau C, Varret M, Abifadel M, Allanore Y. Marques-Pinheiro A, et al. Among authors: boileau c. Joint Bone Spine. 2010 Mar;77(2):151-3. doi: 10.1016/j.jbspin.2009.11.013. Epub 2010 Jan 21. Joint Bone Spine. 2010. PMID: 20096619
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Marques-Pinheiro A, Marduel M, Rabès JP, Devillers M, Villéger L, Allard D, Weissenbach J, Guerin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs JP; French Research Network on ADH; Boileau C, Varret M. Marques-Pinheiro A, et al. Among authors: boileau c. Eur J Hum Genet. 2010 Nov;18(11):1236-42. doi: 10.1038/ejhg.2010.94. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571503 Free PMC article.
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. Among authors: boileau c. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 Free PMC article.
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP; French Research Network on ADH; Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M. Marduel M, et al. Among authors: boileau c. Hum Mutat. 2013 Jan;34(1):83-7. doi: 10.1002/humu.22215. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22949395 Free PMC article.
Genetic basis for systemic sclerosis.
Allanore Y, Wipff J, Kahan A, Boileau C. Allanore Y, et al. Among authors: boileau c. Joint Bone Spine. 2007 Dec;74(6):577-83. doi: 10.1016/j.jbspin.2007.04.005. Epub 2007 Jul 16. Joint Bone Spine. 2007. PMID: 17855142 Review.
Endothelial progenitor cells and rheumatic disorders.
Avouac J, Uzan G, Kahan A, Boileau C, Allanore Y. Avouac J, et al. Among authors: boileau c. Joint Bone Spine. 2008 Mar;75(2):131-7. doi: 10.1016/j.jbspin.2007.09.006. Epub 2008 Jan 29. Joint Bone Spine. 2008. PMID: 18314371 Review.
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabès JP, Abifadel M, Aparicio T, Guenedet JC, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck LP, Samson-Bouma ME. Georges A, et al. Among authors: boileau c. Orphanet J Rare Dis. 2011 Jan 14;6:1. doi: 10.1186/1750-1172-6-1. Orphanet J Rare Dis. 2011. PMID: 21235735 Free PMC article.
361 results