Beaumont C - Search Results

1

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC. Gouya L, et al. Among authors: beaumont c. Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15. Am J Hum Genet. 2006. PMID: 16385445 Free PMC article.

2

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H. Schmitt C, et al. Among authors: beaumont c. Hum Mol Genet. 2005 Oct 15;14(20):3089-98. doi: 10.1093/hmg/ddi342. Epub 2005 Sep 13. Hum Mol Genet. 2005. PMID: 16159891

3

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L. Oustric V, et al. Among authors: beaumont c. Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680888 Free PMC article.

4

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

Gouya L, Deybach JC, Lamoril J, Da Silva V, Beaumont C, Grandchamp B, Nordmann Y. Gouya L, et al. Among authors: beaumont c. Am J Hum Genet. 1996 Feb;58(2):292-9. Am J Hum Genet. 1996. PMID: 8571955 Free PMC article.

5

Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.

Delaby C, Lyoumi S, Ducamp S, Martin-Schmitt C, Gouya L, Deybach JC, Beaumont C, Puy H. Delaby C, et al. Among authors: beaumont c. Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):45-52. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19268001

6

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.

Lyoumi S, Abitbol M, Andrieu V, Henin D, Robert E, Schmitt C, Gouya L, de Verneuil H, Deybach JC, Montagutelli X, Beaumont C, Puy H. Lyoumi S, et al. Among authors: beaumont c. Blood. 2007 Jan 15;109(2):811-8. doi: 10.1182/blood-2006-04-014142. Epub 2006 Sep 26. Blood. 2007. PMID: 17003376 Free article.

7

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. Whatley SD, et al. Among authors: beaumont c. Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18760763 Free PMC article.

8

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model.

Lyoumi S, Abitbol M, Rainteau D, Karim Z, Bernex F, Oustric V, Millot S, Lettéron P, Heming N, Guillmot L, Montagutelli X, Berdeaux G, Gouya L, Poupon R, Deybach JC, Beaumont C, Puy H. Lyoumi S, et al. Among authors: beaumont c. Gastroenterology. 2011 Oct;141(4):1509-19, 1519.e1-3. doi: 10.1053/j.gastro.2011.06.078. Epub 2011 Jul 14. Gastroenterology. 2011. PMID: 21762662

9

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

Gouya L, Muzeau F, Robreau AM, Letteron P, Couchi E, Lyoumi S, Deybach JC, Puy H, Fleming R, Demant P, Beaumont C, Grandchamp B. Gouya L, et al. Among authors: beaumont c. Gastroenterology. 2007 Feb;132(2):679-86. doi: 10.1053/j.gastro.2006.11.024. Epub 2006 Nov 18. Gastroenterology. 2007. PMID: 17258727

10

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.

Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: beaumont c. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041

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