Literature DB >> 9321772

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

M De Braekeleer, C Allard, J P Leblanc, F Simard, G Aubin.   

Abstract

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Year:  1997        PMID： 9321772      PMCID： PMC1051073          DOI： 10.1136/jmg.34.9.788

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).

Authors:  J Daigneault; G Aubin; F Simard; M De Braekeleer
Journal:  Hum Biol       Date:  1992-02       Impact factor: 0.553

2.  Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.

Authors:  J P Cheadle; A L Meredith; L Millar-Jones; M C Goodchild
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

3.  Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).

Authors:  M De Braekeleer; J Daigneault; C Allard; F Simard; G Aubin
Journal:  Ann Hum Biol       Date:  1996 Sep-Oct       Impact factor: 1.533

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

Authors:  M De Braekeleer; J Daigneault; G Aubin; F Simard; C Allard; M T Fujiwara; K Morgan
Journal:  Clin Genet       Date:  1995-02       Impact factor: 4.438

5.  Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.

Authors:  H G de Vries; M A van der Meulen; R Rozen; D J Halley; H Scheffer; L P ten Kate; C H Buys; G J te Meerman
Journal:  Hum Genet       Date:  1996-09       Impact factor: 4.132

6.  A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.

Authors:  M Witt; A Pogorzelski; J Zebrak; E Rutkiewicz
Journal:  Clin Genet       Date:  1996-09       Impact factor: 4.438

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

Authors:  R Rozen; M De Braekeleer; J Daigneault; L Ferreira-Rajabi; M Gerdes; L Lamoureux; G Aubin; F Simard; T M Fujiwara; K Morgan
Journal:  Am J Med Genet       Date:  1992-02-01

8.  Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors:  P Kristidis; D Bozon; M Corey; D Markiewicz; J Rommens; L C Tsui; P Durie
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

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

Authors:  J Daigneault; G Aubin; F Simard; M De Braekeleer
Journal:  Clin Genet       Date:  1991-10       Impact factor: 4.438
  9 in total
  2 in total

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

Authors:  M De Braekeleer; C Allard; J P Leblanc; G Aubin; F Simard
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

2.  Genetic determinants of Pseudomonas aeruginosa colonization in cystic fibrosis patients in Canada.

Authors:  M De Braekeleer; C Allard; J P Leblanc; G Aubin; F Simard
Journal:  Eur J Clin Microbiol Infect Dis       Date:  1998-04       Impact factor: 3.267
  2 in total

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