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

2

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. Hum Mol Genet. 1995 Feb;4(2):275-8. doi: 10.1093/hmg/4.2.275. Hum Mol Genet. 1995. PMID: 7757079

3

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: lamoril j. Hum Mol Genet. 1996 Mar;5(3):407-10. doi: 10.1093/hmg/5.3.407. Hum Mol Genet. 1996. PMID: 8852667

4

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Nordmann Y. Puy H, et al. Among authors: lamoril j. Hum Hered. 1996 May-Jun;46(3):177-80. doi: 10.1159/000154349. Hum Hered. 1996. PMID: 8860014

5

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

6

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

7

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH. Lamoril J, et al. Am J Hum Genet. 2001 May;68(5):1130-8. doi: 10.1086/320118. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11309681 Free PMC article.

8

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. 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

9

Ferrochelatase structural mutant (Fechm1Pas) in the house mouse.

Boulechfar S, Lamoril J, Montagutelli X, Guenet JL, Deybach JC, Nordmann Y, Dailey H, Grandchamp B, de Verneuil H. Boulechfar S, et al. Among authors: lamoril j. Genomics. 1993 Jun;16(3):645-8. doi: 10.1006/geno.1993.1242. Genomics. 1993. PMID: 8325637

10

Review: molecular pathogenesis of hepatic acute porphyrias.

Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y. Grandchamp B, et al. Among authors: lamoril j. J Gastroenterol Hepatol. 1996 Nov;11(11):1046-52. doi: 10.1111/j.1440-1746.1996.tb00035.x. J Gastroenterol Hepatol. 1996. PMID: 8985829 Review.

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