(Q45294236)

11 December 2017

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease (English)

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11 December 2017

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8

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11 December 2017

Alicia Semaka

1

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11 December 2017

Chris Kay

2

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11 December 2017

Crystal Doty

3

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11 December 2017

Jennifer A Collins

4

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11 December 2017

Emilia K Bijlsma

5

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11 December 2017

Fiona Richards

6

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11 December 2017

Y Paul Goldberg

7

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11 December 2017

language of work or name

English

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publication date

29 July 2013

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Journal of Medical Genetics

11 December 2017

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11 December 2017

50

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11 December 2017

10

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11 December 2017

696-703

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

11 December 2017

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

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/10.1136%2FJMEDGENET-2013-101796

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Factors associated with HD CAG repeat instability in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Microsatellite instability (MSI) increases with age in normal somatic cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Repeat instability: mechanisms of dynamic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Mechanisms of trinucleotide repeat instability during human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Huntington disease expansion mutations in humans can occur before meiosis is completed

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Determining microsatellite genotyping reliability and mutation detection ability: an approach using small-pool PCR from sperm DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Complex gene conversion events in germline mutation at human minisatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101796

10.1136/JMEDGENET-2013-101796

21 January 2018

Identifiers

DOI

1 reference

11 December 2017

1 reference