(Q24630629)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Monique Losekoot

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Martine J van Belzen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Sara Seneca

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Peter Bauer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Susan A R Stenhouse

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

European Molecular Genetic Quality Network (EMQN)

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

0 references

publication date

19 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

480-486

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

13 February 2020

copyright license

start time

19 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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

7 April 2017

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7 April 2017

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Definition and clinical importance of haplotypes

27 September 2017

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Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

7 April 2017

1 reference

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

22 April 2017

1 reference

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Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey

27 September 2017

1 reference

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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

27 September 2017

1 reference

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Huntington's disease: from molecular pathogenesis to clinical treatment

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Development of genomic reference materials for Huntington disease genetic testing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Technical standards and guidelines for Huntington disease testing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

NCBI Reference Sequence project: update and current status

27 September 2017

1 reference

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GeneTests-GeneClinics: genetic testing information for a growing audience

27 September 2017

1 reference

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Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

A general method for the detection of large CAG repeat expansions by fluorescent PCR

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

30 May 2018

1 reference

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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

30 May 2018

1 reference

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A dinucleotide repeat polymorphism at the D4S127 locus

30 May 2018

1 reference

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Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus

30 May 2018

1 reference

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Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis

30 May 2018

1 reference

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Autopsy-proven Huntington's disease with 29 trinucleotide repeats

21 January 2018

1 reference

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

21 January 2018

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Huntington's disease as caused by 34 CAG repeats.

21 January 2018

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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

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Reduced penetrance of the Huntington's disease mutation

21 January 2018

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

21 January 2018

1 reference

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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

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Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): implications for diagnostic testing

21 January 2018

1 reference

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False-negative result for Huntington's disease mutation

21 January 2018

1 reference

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Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing

21 January 2018

1 reference

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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

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Recommendations for the predictive genetic test in Huntington's disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641377

Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22990145

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

22990145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22990145%20AND%20SRC:MED&resulttype=core&format=json