Literature DB >> 5082916

A genetic study of Wilson's disease: evidence for heterogeneity.

D W Cox, F C Fraser, A Sass-Kortsak.   

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Year:  1972        PMID: 5082916      PMCID: PMC1762287     

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


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  33 in total

1.  The metabolic disorder in hepato-lenticular degeneration.

Authors:  W B MATTHEWS; M D MILNE; M BELL
Journal:  Q J Med       Date:  1952-10

2.  A family study of the biochemical defects in Wilson's disease.

Authors:  J F Soothill; J D Blainey; F C Neale; M Fischer-Williams; S C Melnick
Journal:  J Clin Pathol       Date:  1961-05       Impact factor: 3.411

3.  Presymptomatic Wilson's disease.

Authors:  A J Levi; S Sherlock; P J Scheuer; J N Cumings
Journal:  Lancet       Date:  1967-09-16       Impact factor: 79.321

4.  Studies on the toxicity of copper. II. The behaviour of microsomal membrane ATPase of the pigeon's brain tissue to copper and some other metallic substances.

Authors:  R Peters; M Shorthouse; J M Walshe
Journal:  Proc R Soc Lond B Biol Sci       Date:  1966-12-13

5.  Role of protein in removal of copper from the liver.

Authors:  G Gregoriadis; T L Sourkes
Journal:  Nature       Date:  1968-04-20       Impact factor: 49.962

6.  A simple method of estimating the segregation ratio under complete ascertainment.

Authors:  C C Li; N Mantel
Journal:  Am J Hum Genet       Date:  1968-01       Impact factor: 11.025

7.  Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma.

Authors:  N A Holtzman; B M Gaumnitz
Journal:  J Biol Chem       Date:  1970-05-10       Impact factor: 5.157

8.  Radiocopper studies in patients with Wilson's disease and their relatives.

Authors:  W N Tauxe; N P Goldstein; R V Randall; J B Gross
Journal:  Am J Med       Date:  1966-09       Impact factor: 4.965

9.  Factors influencing serum ceruloplasmin levels in normal individuals.

Authors:  D W Cox
Journal:  J Lab Clin Med       Date:  1966-12

10.  PHYSICAL AND CHEMICAL STUDIES ON CERULOPLASMIN. 3. A STABILIZING COPPER-COPPER INTERACTION IN CERULOPLASMIN.

Authors:  P ISEN; A G MORELL
Journal:  J Biol Chem       Date:  1965-05       Impact factor: 5.157

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  26 in total

1.  Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

Authors:  Meghan Amson; Esther Lamoureux; Nir Hilzenrat; Marc Tischkowitz
Journal:  Can J Gastroenterol       Date:  2012-06       Impact factor: 3.522

2.  On the defect of synthesis ceruloplasmin in the liver polyribosomes in Wilson's disease.

Authors:  V S Gaitskhoki; O I Kisselev; K A Moshkov; L V Puchkova; M M Shavlovski; V S Shulman; V G Vacharlovski; S A Neifakh
Journal:  Biochem Genet       Date:  1975-10       Impact factor: 1.890

3.  Wilson's disease in Scotland.

Authors:  R H Park; P McCabe; G S Fell; R I Russell
Journal:  Gut       Date:  1991-12       Impact factor: 23.059

4.  Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.

Authors:  G Gromadzka; G Chabik; T Mendel; A Wierzchowska; M Rudnicka; A Czlonkowska
Journal:  J Genet       Date:  2010-12       Impact factor: 1.166

5.  Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Authors:  A Figus; R Lampis; M Devoto; M S Ristaldi; A Ideo; S de Virgilis; A M Nurchi; A Corrias; R Corda; M E Lai
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

6.  Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.

Authors:  A M Bowcock; J Tomfohrde; J Weissenbach; B Bonne-Tamir; P St George-Hyslop; M Giagheddu; L L Cavalli-Sforza; L A Farrer
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

7.  Presenting symptoms and natural history of Wilson disease.

Authors:  T Saito
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

8.  Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

Authors:  A M Bowcock; L A Farrer; L L Cavalli-Sforza; J M Hebert; K K Kidd; M Frydman; B Bonne-Tamir
Journal:  Am J Hum Genet       Date:  1987-07       Impact factor: 11.025

9.  Eight closely linked loci place the Wilson disease locus within 13q14-q21.

Authors:  A M Bowcock; L A Farrer; J M Hebert; M Agger; I Sternlieb; I H Scheinberg; C H Buys; H Scheffer; M Frydman; T Chajek-Saul
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

10.  Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.

Authors:  Gudlaug Tórsdóttir; Grétar Gudmundsson; Jakob Kristinsson; Jón Snaedal; Torkell Jóhannesson
Journal:  Neuropsychiatr Dis Treat       Date:  2009-04-08       Impact factor: 2.570

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