Literature DB >> 8133506

A specific mutation for Huntington's disease.

P S Harper.   

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Year:  1993        PMID： 8133506      PMCID： PMC1016626          DOI： 10.1136/jmg.30.12.975

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


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  21 in total

1.  Clinical consequences of isolating the gene for Huntington's disease.

Authors:  P S Harper
Journal:  BMJ       Date:  1993-08-14

2.  A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease.

Authors:  Y P Goldberg; S E Andrew; L A Clarke; M R Hayden
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

3.  Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.

Authors:  O Riess; A Noerremoelle; S A Soerensen; J T Epplen
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

4.  A simple non-radioactive method for diagnosis of Huntington's disease.

Authors:  J M Valdes; D A Tagle; L W Elmer; F S Collins
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

5.  Huntington's disease: predictive testing and the molecular genetics laboratory.

Authors:  L P Lazarou; A L Meredith; J M Myring; A Tyler; M Morris; D M Ball; P S Harper
Journal:  Clin Genet       Date:  1993-03       Impact factor: 4.438

6.  Trinucleotide repeat length instability and age of onset in Huntington's disease.

Authors:  M Duyao; C Ambrose; R Myers; A Novelletto; F Persichetti; M Frontali; S Folstein; C Ross; M Franz; M Abbott
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors:  H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

8.  Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors:  J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

9.  Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).

Authors:  O W Quarrell; S Youngman; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

10.  Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

Authors:  K E De Rooij; P A De Koning Gans; M I Skraastad; R D Belfroid; M Vegter-Van Der Vlis; R A Roos; E Bakker; G J Van Ommen; J T Den Dunnen; M Losekoot
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318
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  1 in total

Review 1.  Impact of presymptomatic genetic testing on young adults: a systematic review.

Authors:  Lea Godino; Daniela Turchetti; Leigh Jackson; Catherine Hennessy; Heather Skirton
Journal:  Eur J Hum Genet       Date:  2015-07-15       Impact factor: 4.246
  1 in total

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