Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results (Q38164344)

30 August 2017

title

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results (English)

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30 August 2017

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24256063%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

A Semaka

series ordinal

1

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8 June 2020

publication date

15 January 2014

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30 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24256063%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

85

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8 June 2020

issue

4

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8 June 2020

page(s)

303-311

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

8 June 2020

cites work

1 reference

Guidelines for the molecular genetics predictive test in Huntington's disease

21 January 2018

1 reference

Technical standards and guidelines for Huntington disease testing

21 January 2018

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21 January 2018

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Paradox of a better test for Huntington's disease

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Recommendations for the predictive genetic test in Huntington's disease

21 January 2018

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Huntington's disease as caused by 34 CAG repeats.

21 January 2018

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Late-onset Huntington disease with intermediate CAG repeats: true or false?

21 January 2018

1 reference

Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?

21 January 2018

1 reference

Autopsy-proven Huntington's disease with 29 trinucleotide repeats

21 January 2018

1 reference

Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene

21 January 2018

1 reference

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

21 January 2018

1 reference

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

Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.

21 January 2018

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Exploring the correlates of intermediate CAG repeats in Huntington disease

21 January 2018

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Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

"Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment

21 January 2018

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The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation

21 January 2018

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Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

21 January 2018

1 reference

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

21 January 2018

1 reference

Maturity of judgement in decision making for predictive testing for nontreatable adult-onset neurogenetic conditions: a case against predictive testing of minors

21 January 2018

1 reference

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

The fragile X premutation: into the phenotypic fold

21 January 2018

1 reference

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

21 January 2018

1 reference

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

21 January 2018

1 reference

Huntington's disease: how intermediate are intermediate repeat lengths?

21 January 2018

1 reference

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

21 January 2018

1 reference

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

21 January 2018

1 reference

DNA instability in postmitotic neurons

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24256063%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference