Gouya L - Search Results

1

PXR-ALAS1: a key regulatory pathway in liver toxicity induced by isoniazid-rifampicin antituberculosis treatment.

Lyoumi S, Lefebvre T, Karim Z, Gouya L, Puy H. Lyoumi S, et al. Among authors: gouya l. Clin Res Hepatol Gastroenterol. 2013 Nov;37(5):439-41. doi: 10.1016/j.clinre.2013.06.010. Epub 2013 Jul 31. Clin Res Hepatol Gastroenterol. 2013. PMID: 23916555 No abstract available.

2

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: gouya l. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. Update in: Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. PMID: 36798224 Free PMC article. Updated. Preprint.

3

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

4

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

5

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

6

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: gouya l. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):33-41. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929045

7

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

8

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: gouya l. 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

9

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. 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.

10

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: gouya l. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

148 results

Search Page

Filters