Potier M - Search Results

1

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, de Braekeleer M, Melançon S, Lambert M, Potier M, Gagné R, et al. Hechtman P, et al. Among authors: potier m. Am J Hum Genet. 1990 Nov;47(5):815-22. Am J Hum Genet. 1990. PMID: 2220821 Free PMC article.

2

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

Sinnett D, Lavergne L, Melançon SB, Dallaire L, Potier M, Labuda D. Sinnett D, et al. Among authors: potier m. Hum Genet. 1988 Dec;81(1):4-8. doi: 10.1007/BF00283719. Hum Genet. 1988. PMID: 2904404

3

Clinical spectrum of infantile free sialic acid storage disease.

Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M. Lemyre E, et al. Among authors: potier m. Am J Med Genet. 1999 Feb 19;82(5):385-91. Am J Med Genet. 1999. PMID: 10069709 Review.

4

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, Mahuran DJ. McInnes B, et al. Among authors: potier m. J Clin Invest. 1992 Aug;90(2):306-14. doi: 10.1172/JCI115863. J Clin Invest. 1992. PMID: 1386607 Free PMC article.

5

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk.

Dallaire L, Michaud J, Melancon SB, Potier M, Lambert M, Mitchell G, Boisvert J. Dallaire L, et al. Among authors: potier m. Prenat Diagn. 1991 Aug;11(8):629-35. doi: 10.1002/pd.1970110821. Prenat Diagn. 1991. PMID: 1837356

6

Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid.

Morin PR, Melançon SB, Dallaire L, Potier M. Morin PR, et al. Among authors: potier m. Am J Med Genet. 1987 Feb;26(2):405-15. doi: 10.1002/ajmg.1320260219. Am J Med Genet. 1987. PMID: 2880507

7

Date of conception and prevention of neural tube defects.

Dallaire L, Melançon SB, Potier M, Mathieu JP, Ducharme G. Dallaire L, et al. Among authors: potier m. Clin Genet. 1984 Oct;26(4):304-7. doi: 10.1111/j.1399-0004.1984.tb01064.x. Clin Genet. 1984. PMID: 6499246

8

Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease).

Potier M, Melançon SB, Dallaire L, Chicoine R, Mameli L, Bélisle M. Potier M, et al. Am J Med Genet. 1979;4(2):191-200. doi: 10.1002/ajmg.1320040211. Am J Med Genet. 1979. PMID: 517575

9

[Sandhoff's disease: clinical and genetic study of a French-Canadian child].

Melançon SB, Potier M, Geoffroy G, Dallaire L. Melançon SB, et al. Among authors: potier m. Union Med Can. 1974 Jul;103(7):1218-22. Union Med Can. 1974. PMID: 4210450 French. No abstract available.

10

A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance.

Dallaire L, Cantin M, Melançon SB, Perreault G, Potier M. Dallaire L, et al. Among authors: potier m. Clin Genet. 1976 Jul;10(1):1-11. doi: 10.1111/j.1399-0004.1976.tb00001.x. Clin Genet. 1976. PMID: 949858

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