Grandchamp B - Search Results

1

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: grandchamp b. 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.

2

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Gouya L, et al. Among authors: grandchamp b. Nat Genet. 2002 Jan;30(1):27-8. doi: 10.1038/ng809. Epub 2001 Dec 20. Nat Genet. 2002. PMID: 11753383

3

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Gouya L, et al. Among authors: grandchamp b. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11. Hum Genet. 2004. PMID: 14669009

4

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: grandchamp b. 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

5

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: grandchamp b. 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.

6

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: grandchamp b. Am J Hum Genet. 1996 Feb;58(2):292-9. Am J Hum Genet. 1996. PMID: 8571955 Free PMC article.

7

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Gouya L, Puy H, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y, Deybach JC. Gouya L, et al. Among authors: grandchamp b. Blood. 1999 Mar 15;93(6):2105-10. Blood. 1999. PMID: 10068685 Free article.

8

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: grandchamp b. 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.

9

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Boulechfar S, Da Silva V, Deybach JC, Nordmann Y, Grandchamp B, de Verneuil H. Boulechfar S, et al. Among authors: grandchamp b. Hum Genet. 1992 Jan;88(3):320-4. doi: 10.1007/BF00197267. Hum Genet. 1992. PMID: 1733834

10

Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.

Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach JC. Lamoril J, et al. Among authors: grandchamp b. Biochem Biophys Res Commun. 1991 Dec 16;181(2):594-9. doi: 10.1016/0006-291x(91)91231-z. Biochem Biophys Res Commun. 1991. PMID: 1755842

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