Literature DB >> 8178834

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

F Gilbert.   

Abstract

Entities:  

Keywords:  Genetics and Reproduction

Mesh：

Year:  1994        PMID： 8178834      PMCID： PMC1918275     

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


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  7 in total

1.  Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Authors:  D Abeliovich; I P Lavon; I Lerer; T Cohen; C Springer; A Avital; G R Cutting
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

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

Authors:  C R Scriver; T M Fujiwara
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

3.  Advantages of a two-step laboratory approach for cystic fibrosis carrier screening.

Authors:  A L Beaudet; W E O'Brien
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

4.  Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.

Authors:  A H Handyside; J G Lesko; J J Tarín; R M Winston; M R Hughes
Journal:  N Engl J Med       Date:  1992-09-24       Impact factor: 91.245

5.  Detection of over 98% cystic fibrosis mutations in a Celtic population.

Authors:  C Férec; M P Audrezet; B Mercier; H Guillermit; P Moullier; I Quere; C Verlingue
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

6.  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

Review 7.  The spectrum of cystic fibrosis mutations.

Authors:  L C Tsui
Journal:  Trends Genet       Date:  1992-11       Impact factor: 11.639
  7 in total
  1 in total

1.  A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier.

Authors:  V M Park; M E Smith; M T Knight; M J Rock
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318
  1 in total

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