(Q42958171)

11 November 2017

Response to Falush: a role for cis-element polymorphisms in HD. (English)

1 reference

11 November 2017

3

1 reference

11 November 2017

5

1 reference

11 November 2017

Simon C Warby

1

1 reference

11 November 2017

Henk Visscher

series ordinal

2

1 reference

11 November 2017

Christopher E Pearson

series ordinal

4

1 reference

11 November 2017

language of work or name

English

0 references

publication date

1 December 2009

1 reference

American Journal of Human Genetics

11 November 2017

1 reference

11 November 2017

85

1 reference

11 November 2017

6

1 reference

11 November 2017

942-945

1 reference

CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Factors associated with HD CAG repeat instability in Huntington disease

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

CAG-encoded polyglutamine length polymorphism in the human genome

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Repeat instability: mechanisms of dynamic mutations

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

4p16.3 haplotype modifying age at onset of Huntington disease.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

A Darwinian approach to Huntington's disease: subtle health benefits of a neurological disorder

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790565

10.1016/J.AJHG.2009.11.006

16 August 2018

Identifiers

DOI

1 reference

release_rqx47omvyvfphhwuzjjthijpbe

11 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rqx47omvyvfphhwuzjjthijpbe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

11 November 2017

1 reference