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Page 1
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Wintjens R, Bozon D, Belabbas K, MBou F, Girardet JP, Tounian P, Jolly M, Boccara F, Cohen A, Karsenty A, Dubern B, Carel JC, Azar-Kolakez A, Feillet F, Labarthe F, Gorsky AM, Horovitz A, Tamarindi C, Kieffer P, Lienhardt A, Lascols O, Di Filippo M, Dufernez F. Wintjens R, et al. Among authors: bozon d. J Lipid Res. 2016 Mar;57(3):482-91. doi: 10.1194/jlr.P055699. Epub 2016 Jan 22. J Lipid Res. 2016. PMID: 26802169 Free PMC article.
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S. Leclerc-Mercier S, et al. Among authors: bozon d. Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5. Br J Dermatol. 2015. PMID: 26075358 No abstract available.
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N. Di Filippo M, et al. Among authors: bozon d. Atherosclerosis. 2019 May;284:75-82. doi: 10.1016/j.atherosclerosis.2019.02.016. Epub 2019 Mar 3. Atherosclerosis. 2019. PMID: 30875496
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: bozon d. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Identification of 5 novel mutations in the AGXT gene.
Basmaison O, Rolland MO, Cochat P, Bozon D. Basmaison O, et al. Among authors: bozon d. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10862087
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. Chevalier-Porst F, et al. Among authors: bozon d. J Med Genet. 1994 Jul;31(7):541-4. doi: 10.1136/jmg.31.7.541. J Med Genet. 1994. PMID: 7525963 Free PMC article.
U1 snRNA mis-binding: a new cause of CMT1B.
Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D. Crehalet H, et al. Among authors: bozon d. Neurogenetics. 2010 Feb;11(1):13-9. doi: 10.1007/s10048-009-0199-8. Epub 2009 May 28. Neurogenetics. 2010. PMID: 19475438
62 results