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 (Q74450647)

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scientific article published on 01 May 1998

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English	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	scientific article published on 01 May 1998

Statements

scholarly article

1 reference

Europe PubMed Central

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10 November 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545416%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Huntington's disease

1 reference

based on heuristic

inferred from title

language of work or name

0 references

publication date

1 May 1998

1 reference

Europe PubMed Central

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10 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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10 November 2019

62

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Europe PubMed Central

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10 November 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545416%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1243-1247

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545416%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proceed with care: direct predictive testing for Huntington disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic stability in chorionic villi samples and other Huntington fetal tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Huntington disease--another chapter rewritten

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Southern transfer protocol for confirmation of Huntington disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Practice parameter: genetic testing alert. Statement of the Practice Committee Genetics Testing Task Force of the American Academy of Neurology

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the full fragile X syndrome mutation in fetal gametes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced penetrance of the Huntington's disease mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545416

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545416%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545416%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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