Literature DB >> 1384327

Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

C R Scriver, T M Fujiwara.   

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Year:  1992        PMID： 1384327      PMCID： PMC1682854     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  75 in total

1.  No CFTR: are CF symptoms milder?

Authors:  J J Wine
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

2.  Carrier screening for cystic fibrosis.

Authors:  A L Beaudet
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

3.  The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

Authors:  E Kerem; M Corey; B S Kerem; J Rommens; D Markiewicz; H Levison; L C Tsui; P Durie
Journal:  N Engl J Med       Date:  1990-11-29       Impact factor: 91.245

4.  Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants.

Authors:  F Kaplan; C Clow; C R Scriver
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

5.  Public and private views of identity: acceptance of the 1990 Ross Award.

Authors:  C R Scriver
Journal:  Clin Invest Med       Date:  1991-04       Impact factor: 0.825

6.  Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels.

Authors:  M J Rock; E H Mischler; P M Farrell; L J Wei; W T Bruns; D J Hassemer; R H Laessig
Journal:  Pediatrics       Date:  1990-06       Impact factor: 7.124

7.  Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Authors:  T Shoshani; A Augarten; E Gazit; N Bashan; Y Yahav; Y Rivlin; A Tal; H Seret; L Yaar; E Kerem
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

8.  Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis.

Authors:  F Santamaria; D Salvatore; O Castiglione; V Raia; G de Ritis; G Sebastio
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

9.  Abnormal ion permeation through cystic fibrosis respiratory epithelium.

Authors:  M R Knowles; M J Stutts; A Spock; N Fischer; J T Gatzy; R C Boucher
Journal:  Science       Date:  1983-09-09       Impact factor: 47.728

10.  Beta-thalassemia disease prevention: genetic medicine applied.

Authors:  C R Scriver; M Bardanis; L Cartier; C L Clow; G A Lancaster; J T Ostrowsky
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025
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  8 in total

1.  Implications of human genome research: impact on graduate education in genetic counseling.

Authors:  Barbara Bowles Biesecker; Catherine Walsh Vockley; Elizabeth Conover
Journal:  J Genet Couns       Date:  1993-09       Impact factor: 2.537

2.  Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis.

Authors:  Sharon J Durfy; Andrea Page; Barry Eng; Patricia L Chang; John S Waye
Journal:  J Genet Couns       Date:  1994-06       Impact factor: 2.537

3.  Cystic fibrosis carrier population screening in the primary care setting.

Authors:  S Loader; P Caldwell; A Kozyra; J C Levenkron; C D Boehm; H H Kazazian; P T Rowley
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Cystic fibrosis carrier screening: comparability of data and uniformity of testing.

Authors:  F Gilbert
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

5.  Screening for carriers of cystic fibrosis. Screening before pregnancy is needed.

Authors:  J A Raeburn
Journal:  BMJ       Date:  1994-11-26

6.  A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens.

Authors:  C Williams; E S Mayall; R Williamson; A Hirsh; H Cookson
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

7.  Cystic fibrosis heterozygote screening in 5,161 pregnant women.

Authors:  D R Witt; C Schaefer; P Hallam; S Wi; B Blumberg; A Fishbach; J Holtzman; S Kornfeld; R Lee; L Nemzer; R Palmer
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

8.  Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model.

Authors:  Peter R Durie; Geraldine Kent; M James Phillips; Cameron A Ackerley
Journal:  Am J Pathol       Date:  2004-04       Impact factor: 4.307
  8 in total

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