De Braekeleer M - Search Results

1

Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.

De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara MT, Morgan K. De Braekeleer M, et al. Clin Genet. 1995 Feb;47(2):110-1. doi: 10.1111/j.1399-0004.1995.tb03939.x. Clin Genet. 1995. PMID: 7606844 No abstract available.

2

Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.

De Braekeleer M, Simard F, Aubin G. De Braekeleer M, et al. Clin Genet. 1997 Mar;51(3):214-6. doi: 10.1111/j.1399-0004.1997.tb02456.x. Clin Genet. 1997. PMID: 9137890

3

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.

Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K. Rozen R, et al. Among authors: de braekeleer m. Am J Med Genet. 1992 Feb 1;42(3):360-4. doi: 10.1002/ajmg.1320420322. Am J Med Genet. 1992. PMID: 1536179

4

Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).

Daigneault J, Aubin G, Simard F, De Braekeleer M. Daigneault J, et al. Among authors: de braekeleer m. Clin Genet. 1991 Oct;40(4):298-303. doi: 10.1111/j.1399-0004.1991.tb03099.x. Clin Genet. 1991. PMID: 1756602

5

Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.

Daigneault J, Aubin G, Simard F, De Braekeleer M. Daigneault J, et al. Among authors: de braekeleer m. J Med Genet. 1991 Sep;28(9):613-4. doi: 10.1136/jmg.28.9.613. J Med Genet. 1991. PMID: 1956060 Free PMC article.

6

Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.

De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. De Braekeleer M, et al. J Med Genet. 1997 Sep;34(9):788-9. doi: 10.1136/jmg.34.9.788. J Med Genet. 1997. PMID: 9321772 Free PMC article. No abstract available.

7

Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.

De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. De Braekeleer M, et al. Hum Genet. 1997 Dec;101(2):208-11. doi: 10.1007/s004390050616. Hum Genet. 1997. PMID: 9402971

8

Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F. De Braekeleer M, et al. J Med Genet. 1998 Mar;35(3):262-3. doi: 10.1136/jmg.35.3.262. J Med Genet. 1998. PMID: 9541118 Free PMC article. No abstract available.

9

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).

De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Férec C. De Braekeleer M, et al. Clin Genet. 1998 Jan;53(1):44-6. doi: 10.1034/j.1399-0004.1998.531530108.x. Clin Genet. 1998. PMID: 9550360

10

Phenotypic variability in five cystic fibrosis patients compound heterozygous for the Y1092X mutation.

De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. De Braekeleer M, et al. Hum Hered. 1998 May-Jun;48(3):158-62. doi: 10.1159/000022796. Hum Hered. 1998. PMID: 9618063

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