Da Silva V - Search Results

1

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: da silva v. Am J Hum Genet. 1996 Feb;58(2):292-9. Am J Hum Genet. 1996. PMID: 8571955 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: da silva v. 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: da silva v. 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: da silva v. 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: da silva v. 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

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: da silva v. Hum Genet. 1992 Jan;88(3):320-4. doi: 10.1007/BF00197267. Hum Genet. 1992. PMID: 1733834

7

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y. Lamoril J, et al. Among authors: da silva v. Hum Mol Genet. 1995 Feb;4(2):275-8. doi: 10.1093/hmg/4.2.275. Hum Mol Genet. 1995. PMID: 7757079

8

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

Deybach JC, Puy H, Robréau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y. Deybach JC, et al. Among authors: da silva v. Hum Mol Genet. 1996 Mar;5(3):407-10. doi: 10.1093/hmg/5.3.407. Hum Mol Genet. 1996. PMID: 8852667

9

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y. Puy H, et al. Among authors: da silva v. Am J Hum Genet. 1997 Jun;60(6):1373-83. doi: 10.1086/515455. Am J Hum Genet. 1997. PMID: 9199558 Free PMC article.

10

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: da silva v. Blood. 1999 Mar 15;93(6):2105-10. Blood. 1999. PMID: 10068685 Free article.

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