Puy H - Search Results

1

Karim Z, Puy H, Beaumont C, Gouya L, Kannengiesser C. Karim Z, et al. Among authors: puy h. Gastroenterology. 2016 Oct;151(4):771-2. doi: 10.1053/j.gastro.2016.09.002. Epub 2016 Sep 10. Gastroenterology. 2016. PMID: 27623323 No abstract available.

2

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. Am J Hum Genet. 1997 Jun;60(6):1373-83. doi: 10.1086/515455. Am J Hum Genet. 1997. PMID: 9199558 Free PMC article.

3

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.

Lamoril J, Puy H, Gouya L, Rosipal R, Da Silva V, Grandchamp B, Foint T, Bader-Meunier B, Dommergues JP, Deybach JC, Nordmann Y. Lamoril J, et al. Among authors: puy h. Blood. 1998 Feb 15;91(4):1453-7. Blood. 1998. PMID: 9454777 Free article.

4

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.

Lamoril J, Andant C, Bogard C, Puy H, Gouya L, Pawlotsky JM, Da Silva V, Soulé JC, Deybach JC, Nordmann Y. Lamoril J, et al. Among authors: puy h. Hepatology. 1998 Mar;27(3):848-52. doi: 10.1002/hep.510270329. Hepatology. 1998. PMID: 9500716

5

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

Gouya L, Schneider-Yin X, Rüfenacht U, Herrero C, Lecha M, Mascaro JM, Puy H, Deybach JC, Minder EI. Gouya L, et al. Among authors: puy h. J Invest Dermatol. 1998 Sep;111(3):406-9. doi: 10.1046/j.1523-1747.1998.00327.x. J Invest Dermatol. 1998. PMID: 9740232 Free article.

6

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

Tchernitchko D, Lamoril J, Puy H, Robreau AM, Bogard C, Rosipal R, Gouya L, Deybach JC, Nordmann Y. Tchernitchko D, et al. Among authors: puy h. Clin Chim Acta. 1999 Jan;279(1-2):133-43. doi: 10.1016/s0009-8981(98)00056-4. Clin Chim Acta. 1999. PMID: 10064125

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: puy h. Blood. 1999 Mar 15;93(6):2105-10. Blood. 1999. PMID: 10068685 Free article.

8

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: puy h. Nat Genet. 2002 Jan;30(1):27-8. doi: 10.1038/ng809. Epub 2001 Dec 20. Nat Genet. 2002. PMID: 11753383

9

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

Lamoril J, Andant C, Gouya L, Malonova E, Grandchamp B, Martásek P, Deybac JC, Puy H. Lamoril J, et al. Among authors: puy h. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):33-41. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929045

10

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: puy h. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11. Hum Genet. 2004. PMID: 14669009

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