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A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis.
Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix JP, Dautréaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJ, Rochette J. Cadet E, et al. Among authors: rochette j. J Intern Med. 2003 Feb;253(2):217-24. doi: 10.1046/j.1365-2796.2003.01094.x. J Intern Med. 2003. PMID: 12542563 Free article.
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.
Roll P, Sanlaville D, Cillario J, Labalme A, Bruneau N, Massacrier A, Délepine M, Dessen P, Lazar V, Robaglia-Schlupp A, Lesca G, Jouve E, Rudolf G, Rochette J, Lathrop GM, Szepetowski P. Roll P, et al. Among authors: rochette j. PLoS One. 2010 Oct 29;5(10):e13750. doi: 10.1371/journal.pone.0013750. PLoS One. 2010. PMID: 21060786 Free PMC article.
[Screening for HFE C282Y mutation at birth?].
Rochette J, Cadet E. Rochette J, et al. Rev Med Interne. 2006 Jan;27(1):1-4. doi: 10.1016/j.revmed.2005.10.015. Epub 2005 Nov 22. Rev Med Interne. 2006. PMID: 16337066 French. No abstract available.
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].
Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J; Réseay DHOS Pathologie héréditaire de l'érythrocyte. Aguilar-Martinez P, et al. Among authors: rochette j. Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457. Ann Biol Clin (Paris). 2010. PMID: 20650741 Free article. French.
123 results