Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications. (Q36256786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18712713%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

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

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12 January 2020

13

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12 January 2020

J. Michael Andresen

3

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12 January 2020

author name string

D Brocklebank

1

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12 January 2020

J Gayán

2

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12 January 2020

S A Roberts

4

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12 January 2020

A B Young

5

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12 January 2020

S R Snodgrass

6

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12 January 2020

J B Penney

7

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12 January 2020

M A Ramos-Arroyo

8

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J J Cha

9

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12 January 2020

H D Rosas

10

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12 January 2020

S M Hersch

11

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12 January 2020

A Feigin

12

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12 January 2020

N S Wexler

14

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D E Housman

15

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12 January 2020

L R Cardon

16

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12 January 2020

International-Venezuela Collaborative Research Group

17

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12 January 2020

publication date

1 April 2009

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

12 January 2020

published in

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12 January 2020

volume

150B

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issue

3

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12 January 2020

page(s)

425-429

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Factors associated with HD CAG repeat instability in Huntington disease

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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A polymorphic DNA marker genetically linked to Huntington's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

Autopsy-proven Huntington's disease with 29 trinucleotide repeats

29 June 2018

1 reference

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New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

Expansion of a 27 CAG repeat allele into a symptomatic huntington disease-producing allele

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4636008

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

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18712713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.B.30826

1 reference

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12 January 2020

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12 January 2020

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