Tanguay RM - Search Results

1

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

Labelle Y, Phaneuf D, Leclerc B, Tanguay RM. Labelle Y, et al. Among authors: tanguay rm. Hum Mol Genet. 1993 Jul;2(7):941-6. doi: 10.1093/hmg/2.7.941. Hum Mol Genet. 1993. PMID: 8364576

2

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM. Phaneuf D, et al. Among authors: tanguay rm. J Clin Invest. 1992 Oct;90(4):1185-92. doi: 10.1172/JCI115979. J Clin Invest. 1992. PMID: 1401056 Free PMC article.

3

TaqI RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.

Demers SI, Phaneuf D, Tanguay RM. Demers SI, et al. Among authors: tanguay rm. Nucleic Acids Res. 1991 Mar 25;19(6):1352. doi: 10.1093/nar/19.6.1352-a. Nucleic Acids Res. 1991. PMID: 1674367 Free PMC article.

4

Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney.

Labelle Y, Phaneuf D, Tanguay RM. Labelle Y, et al. Among authors: tanguay rm. Gene. 1991 Aug 15;104(2):197-202. doi: 10.1016/0378-1119(91)90250-f. Gene. 1991. PMID: 1916290

5

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanguay RM. Phaneuf D, et al. Among authors: tanguay rm. Am J Hum Genet. 1991 Mar;48(3):525-35. Am J Hum Genet. 1991. PMID: 1998338 Free PMC article.

6

Two novel mutations involved in hereditary tyrosinemia type I.

St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay RM. St-Louis M, et al. Among authors: tanguay rm. Hum Mol Genet. 1995 Feb;4(2):319-20. doi: 10.1093/hmg/4.2.319. Hum Mol Genet. 1995. PMID: 7757089 No abstract available.

7

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

Demers SI, Phaneuf D, Tanguay RM. Demers SI, et al. Among authors: tanguay rm. Am J Hum Genet. 1994 Aug;55(2):327-33. Am J Hum Genet. 1994. PMID: 7913582 Free PMC article.

8

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM. St-Louis M, et al. Among authors: tanguay rm. Hum Mol Genet. 1994 Jan;3(1):69-72. doi: 10.1093/hmg/3.1.69. Hum Mol Genet. 1994. PMID: 8162054

9

Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1.

Labelle Y, Puymirat J, Tanguay RM. Labelle Y, et al. Among authors: tanguay rm. Biochim Biophys Acta. 1993 Jan 22;1180(3):250-6. doi: 10.1016/0925-4439(93)90046-4. Biochim Biophys Acta. 1993. PMID: 8422430

10

Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer.

Phaneuf D, Hadchouel M, Tanguay RM, Bréchot C, Ferry N. Phaneuf D, et al. Among authors: tanguay rm. Biochem Biophys Res Commun. 1995 Mar 28;208(3):957-63. doi: 10.1006/bbrc.1995.1427. Biochem Biophys Res Commun. 1995. PMID: 7702626

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