Literature DB >> 9132504

Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.

C Holzmann, A M Saecker, J T Epplen, O Riess.   

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Year:  1997        PMID： 9132504      PMCID： PMC1050907          DOI： 10.1136/jmg.34.3.264

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


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  13 in total

Review 1.  Huntington's disease. Pathogenesis and management.

Authors:  J B Martin; J F Gusella
Journal:  N Engl J Med       Date:  1986-11-13       Impact factor: 91.245

2.  Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.

Authors:  C Zühlke; O Riess; K Schröder; I Siedlaczck; J T Epplen; W Engel; U Thies
Journal:  Hum Mol Genet       Date:  1993-09       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.  Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease.

Authors:  E Rosser; S M Huson; G Norbury
Journal:  Lancet       Date:  1994-02-19       Impact factor: 79.321

5.  Genomic sequencing.

Authors:  G M Church; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

6.  Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

Authors:  C Gellera; C Meoni; B Castellotti; B Zappacosta; F Girotti; F Taroni; S DiDonato
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

7.  Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors:  R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

8.  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

9.  A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes.

Authors:  J P Warner; L H Barron; D J Brock
Journal:  Mol Cell Probes       Date:  1993-06       Impact factor: 2.365

10.  Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

Authors:  H Telenius; H P Kremer; J Theilmann; S E Andrew; E Almqvist; M Anvret; C Greenberg; J Greenberg; G Lucotte; F Squitieri
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150
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  1 in total

1.  Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Authors:  Ida Höijer; Yu-Chih Tsai; Tyson A Clark; Paul Kotturi; Niklas Dahl; Eva-Lena Stattin; Marie-Louise Bondeson; Lars Feuk; Ulf Gyllensten; Adam Ameur
Journal:  Hum Mutat       Date:  2018-07-12       Impact factor: 4.878
  1 in total

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