Literature DB >> 7783171

Haplotype analysis in autosomal dominant polycystic kidney disease.

S E Pound1, S Thomas, A Snarey, A M Macnicol, M L Watson, P M Pignatelli, A M Frischauf, P C Harris, A F Wright.   

Abstract

Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

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Year:  1995        PMID： 7783171      PMCID： PMC1050319          DOI： 10.1136/jmg.32.3.208

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


  30 in total

1.  A hypervariable locus D16S309 located at the distal end of 16p.

Authors:  N J Royle; J A Armour; M Webb; A Thomas; A J Jeffreys
Journal:  Nucleic Acids Res       Date:  1992-03-11       Impact factor: 16.971

2.  Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families.

Authors:  O Z DALGAARD
Journal:  Acta Med Scand Suppl       Date:  1957

3.  Genetic heterogeneity of polycystic kidney disease in Europe.

Authors:  D J Peters; L A Sandkuijl
Journal:  Contrib Nephrol       Date:  1992       Impact factor: 1.580

4.  Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16.

Authors:  A D Thompson; Y Shen; K Holman; G R Sutherland; D F Callen; R I Richards
Journal:  Genomics       Date:  1992-06       Impact factor: 5.736

5.  The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

Authors:  G G Germino; D Weinstat-Saslow; H Himmelbauer; G A Gillespie; S Somlo; B Wirth; N Barton; K L Harris; A M Frischauf; S T Reeders
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

6.  Recombination events suggest potential sites for the Huntington's disease gene.

Authors:  M E MacDonald; J L Haines; M Zimmer; S V Cheng; S Youngman; W L Whaley; N Wexler; M Bucan; B A Allitto; B Smith
Journal:  Neuron       Date:  1989-08       Impact factor: 17.173

7.  Regional localization of the autosomal dominant polycystic kidney disease locus.

Authors:  S T Reeders; T Keith; P Green; G G Germino; N J Barton; O J Lehmann; V A Brown; P Phipps; J Morgan; J C Bear
Journal:  Genomics       Date:  1988-08       Impact factor: 5.736

8.  Linkage heterogeneity of autosomal dominant polycystic kidney disease.

Authors:  W J Kimberling; P R Fain; J B Kenyon; D Goldgar; E Sujansky; P A Gabow
Journal:  N Engl J Med       Date:  1988-10-06       Impact factor: 91.245

9.  Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.

Authors:  M H Breuning; S T Reeders; H Brunner; J W Ijdo; J J Saris; A Verwest; G J van Ommen; P L Pearson
Journal:  Lancet       Date:  1987-12-12       Impact factor: 79.321

10.  A second genetic locus for autosomal dominant polycystic kidney disease.

Authors:  G Romeo; M Devoto; G Costa; L Roncuzzi; L Catizone; P Zucchelli; G G Germino; T Keith; D J Weatherall; S T Reeders
Journal:  Lancet       Date:  1988-07-02       Impact factor: 79.321
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