Literature DB >> 3076062

The molecular genetics of complex inherited diseases.

R Williamson1.   

Abstract

The majority of inherited diseases are due to unknown biochemical defects, or are either polygenetic or multifactorial. Due to advances in molecular genetics, it is now possible to study these conditions, either by reverse genetics (using cloning techniques to move from linkage to gene, and then determining the protein involved) or by dissecting a complex disease into a set of monogenic paradigms.

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Year:  1988        PMID： 3076062      PMCID： PMC2149106     

Source DB:  PubMed          Journal:  Br J Cancer Suppl        ISSN： 0306-9443


  23 in total

1.  A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Authors:  R G Knowlton; O Cohen-Haguenauer; N Van Cong; J Frézal; V A Brown; D Barker; J C Braman; J W Schumm; L C Tsui; M Buchwald
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

2.  Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.

Authors:  A Beaudet; A Bowcock; M Buchwald; L Cavalli-Sforza; M Farrall; M C King; K Klinger; J M Lalouel; G Lathrop; S Naylor
Journal:  Am J Hum Genet       Date:  1986-12       Impact factor: 11.025

3.  Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven.

Authors:  P J Scambler; H Y Law; R Williamson; C S Cooper
Journal:  Nucleic Acids Res       Date:  1986-09-25       Impact factor: 16.971

4.  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

5.  Indirect cystic fibrosis carrier detection.

Authors:  M Farrall; X Estivill; R Williamson
Journal:  Lancet       Date:  1987-07-18       Impact factor: 79.321

6.  First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes.

Authors:  M Farrall; H Y Law; C H Rodeck; R Warren; P Stanier; M Super; W Lissens; P Scambler; E Watson; B Wainwright
Journal:  Lancet       Date:  1986-06-21       Impact factor: 79.321

7.  Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.

Authors:  P J Scambler; B J Wainwright; M Farrall; J Bell; P Stanier; N J Lench; G Bell; H Kruyer; F Ramirez; R Williamson
Journal:  Lancet       Date:  1985-11-30       Impact factor: 79.321

8.  Construction and use of human chromosome jumping libraries from NotI-digested DNA.

Authors:  A Poustka; T M Pohl; D P Barlow; A M Frischauf; H Lehrach
Journal:  Nature       Date:  1987 Jan 22-28       Impact factor: 49.962

9.  A closely linked genetic marker for cystic fibrosis.

Authors:  R White; S Woodward; M Leppert; P O'Connell; M Hoff; J Herbst; J M Lalouel; M Dean; G Vande Woude
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

10.  Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Authors:  B J Wainwright; P J Scambler; J Schmidtke; E A Watson; H Y Law; M Farrall; H J Cooke; H Eiberg; R Williamson
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962
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  1 in total

1.  Reasoning over genetic variance information in cause-and-effect models of neurodegenerative diseases.

Authors:  Mufassra Naz; Alpha Tom Kodamullil; Martin Hofmann-Apitius
Journal:  Brief Bioinform       Date:  2015-08-05       Impact factor: 11.622
  1 in total

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