Literature DB >> 3568437

Public records and recognition of genetic disease in Scotland.

S Collyer, R De Mey.   

Abstract

The use of Scottish public records to assist in the study of genetic disease is described. Four examples are given of situations in which such data can assist in the management of genetic disease. Some problems and limitations are discussed.

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Year:  1987        PMID： 3568437     DOI： 10.1111/j.1399-0004.1987.tb02782.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

Authors:  M Jay; A C Bird; A N Moore; B Jay
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

2.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

3.  Electronically ascertained extended pedigrees in breast cancer genetic counseling.

Authors:  V Stefansdottir; H Skirton; O Th Johannsson; H Olafsdottir; G H Olafsdottir; L Tryggvadottir; J J Jonsson
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

4.  BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.

Authors: 
Journal:  Br J Cancer       Date:  2003-04-22       Impact factor: 7.640

5.  Evidence of a founder BRCA1 mutation in Scotland.

Authors:  A Liede; B Cohen; D M Black; R H Davidson; A Renwick; E Hoodfar; O I Olopade; M Micek; V Anderson; R De Mey; A Fordyce; E Warner; J L Dann; M C King; B Weber; S A Narod; C M Steel
Journal:  Br J Cancer       Date:  2000-02       Impact factor: 7.640

6.  Familial breast cancer: management of 'lower risk' referrals.

Authors:  D Young; L McLeish; F Sullivan; M Pitkethly; M Reis; D Goudie; H Vysny; G Ozakinci; M Steel
Journal:  Br J Cancer       Date:  2006-10-03       Impact factor: 7.640
  6 in total

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