de Braekeleer M - Search Results

1

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John SW, Berthelon M, Berthelot J, Journel H, Le Marec B, et al. Lyonnet S, et al. Among authors: de braekeleer m. Am J Hum Genet. 1992 Jul;51(1):191-6. Am J Hum Genet. 1992. PMID: 1609797 Free PMC article.

2

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagné R, Robinson BH. Merante F, et al. Among authors: de braekeleer m. Am J Hum Genet. 1993 Aug;53(2):481-7. Am J Hum Genet. 1993. PMID: 8392290 Free PMC article.

3

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

De Braekeleer M, Hechtman P, Andermann E, Kaplan F. De Braekeleer M, et al. Hum Genet. 1992 Apr;89(1):83-7. doi: 10.1007/BF00207048. Hum Genet. 1992. PMID: 1577470

4

Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec.

Normand T, Bergeron J, Fernandez-Margallo T, Bharucha A, Ven Murthy MR, Julien P, Gagné C, Dionne C, De Braekeleer M, Ma R, et al. Normand T, et al. Among authors: de braekeleer m. Hum Genet. 1992 Aug;89(6):671-5. doi: 10.1007/BF00221960. Hum Genet. 1992. PMID: 1511985

5

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.

Kaplan F, Kokotsis G, DeBraekeleer M, Morgan K, Scriver CR. Kaplan F, et al. Am J Hum Genet. 1990 Jan;46(1):126-32. Am J Hum Genet. 1990. PMID: 1967205 Free PMC article.

6

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F. Hechtman P, et al. Among authors: de braekeleer m. Hum Genet. 1992 Dec;90(4):402-6. doi: 10.1007/BF00220467. Hum Genet. 1992. PMID: 1483696

7

Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.

Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L, et al. Rozen R, et al. Among authors: de braekeleer m. Am J Hum Genet. 1990 Oct;47(4):606-10. Am J Hum Genet. 1990. PMID: 2220803 Free PMC article.

8

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M. Morin C, et al. Among authors: de braekeleer m. Am J Hum Genet. 1993 Aug;53(2):488-96. Am J Hum Genet. 1993. PMID: 8392291 Free PMC article.

9

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: de braekeleer m. Am J Hum Genet. 1990 Nov;47(5):815-22. Am J Hum Genet. 1990. PMID: 2220821 Free PMC article.

10

Hereditary disorders in the French Canadian population of Quebec. I. In search of founders.

De Braekeleer M, Dao TN. De Braekeleer M, et al. Hum Biol. 1994 Apr;66(2):205-23. Hum Biol. 1994. PMID: 8194844

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