Reduced penetrance of the Huntington's disease mutation (Q45294302)

11 December 2017

Reduced penetrance of the Huntington's disease mutation (English)

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11 December 2017

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incomplete penetrance

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author

Richard H Myers

10

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11 December 2017

8

J F Gusella

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11 December 2017

S M McNeil

1

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11 December 2017

A Novelletto

2

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11 December 2017

J Srinidhi

3

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11 December 2017

G Barnes

4

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11 December 2017

I Kornbluth

5

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11 December 2017

M R Altherr

6

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11 December 2017

J J Wasmuth

7

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11 December 2017

M E MacDonald

9

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11 December 2017

1 May 1997

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11 December 2017

Human Molecular Genetics

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11 December 2017

6

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11 December 2017

5

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11 December 2017

775-779

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Huntington's disease. Pathogenesis and management

11 December 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

The epidemiology of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Mutation analysis in patients with possible but apparently sporadic Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Diagnosis of "sporadic" Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Mutation size and age at onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.775

21 January 2018

Identifiers

DOI

10.1093/HMG/6.5.775

1 reference

11 December 2017

1 reference