Literature DB >> 2571129

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

C L Rosenbloom1, B S Kerem, J M Rommens, L C Tsui, B Wainwright, R Williamson, W E O'Brien, A L Beaudet.   

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Year:  1989        PMID: 2571129      PMCID: PMC318451          DOI: 10.1093/nar/17.17.7117

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


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  1 in total

1.  A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

Authors:  X Estivill; M Farrall; P J Scambler; G M Bell; K M Hawley; N J Lench; G P Bates; H C Kruyer; P A Frederick; P Stanier
Journal:  Nature       Date:  1987 Apr 30-May 6       Impact factor: 49.962

  1 in total
  19 in total

1.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

2.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

4.  The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Authors:  A E Shrimpton; I McIntosh; D J Brock
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

5.  A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Authors:  F F Chehab; J Johnson; E Louie; M Goossens; E Kawasaki; H Erlich
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

6.  Genetic analysis of Hispanic individuals with cystic fibrosis.

Authors:  T A Grebe; W K Seltzer; J DeMarchi; D K Silva; W W Doane; D Gozal; S F Richter; C M Bowman; R A Norman; S N Rhodes
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

7.  The Irish cystic fibrosis database.

Authors:  S M Cashman; A Patino; M G Delgado; L Byrne; B Denham; M De Arce
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

Review 8.  Application of the polymerase chain reaction to the diagnosis of human genetic disease.

Authors:  J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

9.  Clinical features of cystic fibrosis patients with rare genotypes.

Authors:  G Castaldo; E Rippa; V Raia; D Salvatore; C Massa; G de Ritis; F Salvatore
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

10.  Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Authors:  I Dorval; S Odent; P Jezequel; H Journel; B Chauvel; A Dabadie; M Roussey; J Y Le Gall; B Le Marec; V David
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

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