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Literature DB >> 9545416

ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.

Abstract

Entities: Disease Species

Mesh：

Year: 1998 PMID： 9545416 PMCID： PMC1377103

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

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34 in total

1. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors: A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal: Nature Date: 1991-07-04 Impact factor: 49.962

2. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains.

Authors: F Persichetti; J Srinidhi; L Kanaley; P Ge; R H Myers; K D'Arrigo; G T Barnes; M E MacDonald; J P Vonsattel; J F Gusella
Journal: Neurobiol Dis Date: 1994-12 Impact factor: 5.996

3. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.

Authors: R H Myers; M E MacDonald; W J Koroshetz; M P Duyao; C M Ambrose; S A Taylor; G Barnes; J Srinidhi; C S Lin; W L Whaley
Journal: Nat Genet Date: 1993-10 Impact factor: 38.330

4. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

Authors: Y P Goldberg; B Kremer; S E Andrew; J Theilmann; R K Graham; F Squitieri; H Telenius; S Adam; A Sajoo; E Starr
Journal: Nat Genet Date: 1993-10 Impact factor: 38.330

5. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

Authors: S E Andrew; Y P Goldberg; B Kremer; H Telenius; J Theilmann; S Adam; E Starr; F Squitieri; B Lin; M A Kalchman
Journal: Nat Genet Date: 1993-08 Impact factor: 38.330

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. 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

8. Gametic but not somatic instability of CAG repeat length in Huntington's disease.

Authors: M E MacDonald; G Barnes; J Srinidhi; M P Duyao; C M Ambrose; R H Myers; J Gray; P M Conneally; A Young; J Penney
Journal: J Med Genet Date: 1993-12 Impact factor: 6.318

9. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors: S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal: Nat Genet Date: 1994-01 Impact factor: 38.330

10. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene.

Authors: C Zühlke; O Riess; B Bockel; H Lange; U Thies
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

39 in total

1. Huntington's Disease.

Authors:
Journal: Curr Treat Options Neurol Date: 2000-05 Impact factor: 3.598

2. Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats.

Authors: Yanyuan Ma; Yuanjia Wang
Journal: Stat Med Date: 2013-09-12 Impact factor: 2.373

3. The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.

Authors: Maria do Carmo Costa; Paula Magalhães; Laura Guimarães; Patrícia Maciel; Jorge Sequeiros; Alda Sousa
Journal: J Hum Genet Date: 2005-12-22 Impact factor: 3.172

4. Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.

Authors: Oliver W J Quarrell; Alan S Rigby; L Barron; Y Crow; A Dalton; N Dennis; A E Fryer; F Heydon; E Kinning; A Lashwood; M Losekoot; L Margerison; S McDonnell; P J Morrison; A Norman; M Peterson; F L Raymond; S Simpson; E Thompson; J Warner
Journal: J Med Genet Date: 2007-03 Impact factor: 6.318