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Heavy/light chain specific immunoglobulin ratios provides no additional information than serum proteins electrophoresis and immunofixation for the diagnosis and the follow-up of intact immunoglobulin multiple myeloma patients.
Pathol Biol (Paris). 2015 Sep;63(4-5):215-21. doi: 10.1016/j.patbio.2015.06.001. Epub 2015 Aug 28.
Pathol Biol (Paris). 2015.
PMID: 26319969
Clinical Trial.
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard M, Beaumont-Epinette MP, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V.
Dubourg C, et al. Among authors: beaumont epinette mp.
Mol Syndromol. 2014 Feb;5(2):57-64. doi: 10.1159/000357359. Epub 2014 Jan 7.
Mol Syndromol. 2014.
PMID: 24715852
Free PMC article.
Item in Clipboard
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
Hamdi-Rozé H, Beaumont-Epinette MP, Ben Ali Z, Le Lan C, Loustaud-Ratti V, Causse X, Loreal O, Deugnier Y, Brissot P, Jouanolle AM, Bardou-Jacquet E.
Hamdi-Rozé H, et al. Among authors: beaumont epinette mp.
Am J Hematol. 2016 Dec;91(12):1202-1205. doi: 10.1002/ajh.24535. Epub 2016 Aug 22.
Am J Hematol. 2016.
PMID: 27518069
Free article.
Item in Clipboard
Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
Beaumont-Epinette MP, Delobel JB, Ropert M, Deugnier Y, Loréal O, Jouanolle AM, Brissot P, Bardou-Jacquet E.
Beaumont-Epinette MP, et al.
Blood Cells Mol Dis. 2015 Feb;54(2):151-4. doi: 10.1016/j.bcmd.2014.11.020. Epub 2014 Nov 26.
Blood Cells Mol Dis. 2015.
PMID: 25486930
Free article.
Item in Clipboard
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P.
Bardou-Jacquet E, et al. Among authors: beaumont epinette mp.
Clin Res Hepatol Gastroenterol. 2014 Apr;38(2):143-54. doi: 10.1016/j.clinre.2013.11.003. Epub 2013 Dec 8.
Clin Res Hepatol Gastroenterol. 2014.
PMID: 24321703
Free article.
Review.
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Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
Bardou-Jacquet E, Cunat S, Beaumont-Epinette MP, Kannengiesser C, Causse X, Sauvion S, Pouliquen B, Deugnier Y, David V, Loréal O, Aguilar-Martinez P, Brissot P, Jouanolle AM.
Bardou-Jacquet E, et al. Among authors: beaumont epinette mp.
Br J Haematol. 2013 Jul;162(2):278-81. doi: 10.1111/bjh.12350. Epub 2013 Apr 18.
Br J Haematol. 2013.
PMID: 23600741
Free article.
No abstract available.
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