(Q43232369)

16 November 2017

0 references

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study (English)

1 reference

16 November 2017

0 references

incomplete penetrance

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author

Yanick J. Crow

4

1 reference

16 November 2017

Oliver W J Quarrell

1

1 reference

16 November 2017

Alan S Rigby

2

1 reference

16 November 2017

L Barron

3

1 reference

16 November 2017

A Dalton

5

1 reference

16 November 2017

N Dennis

6

1 reference

16 November 2017

A E Fryer

7

1 reference

16 November 2017

F Heydon

8

1 reference

16 November 2017

E Kinning

9

1 reference

16 November 2017

A Lashwood

10

1 reference

16 November 2017

M Losekoot

11

1 reference

16 November 2017

L Margerison

12

1 reference

16 November 2017

S McDonnell

13

1 reference

16 November 2017

P J Morrison

14

1 reference

16 November 2017

A Norman

15

1 reference

16 November 2017

M Peterson

16

1 reference

16 November 2017

F L Raymond

17

1 reference

16 November 2017

S Simpson

18

1 reference

16 November 2017

E Thompson

19

1 reference

16 November 2017

J Warner

20

1 reference

16 November 2017

language of work or name

English

0 references

publication date

1 March 2007

1 reference

Journal of Medical Genetics

16 November 2017

1 reference

16 November 2017

44

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16 November 2017

3

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16 November 2017

e68

1 reference

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Family and molecular data for a fine analysis of age at onset in Huntington disease.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Reduced penetrance of the Huntington's disease mutation

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598018

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

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361007

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.045120

1 reference

16 November 2017

1 reference

16 November 2017

1 reference