(Q45291385)

11 December 2017

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice (English)

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11 December 2017

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13

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11 December 2017

Fátima Ferreirinha

3

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Alda Sousa

Alda Sousa

12

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Fernando Regateiro

Fernando Regateiro

10

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Maria Carolina Garrett

Carolina Garrett

9

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Jorge Sequeiros

Jorge Sequeiros

14

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Maria do Carmo Costa

Maria do Carmo Costa

1

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author name string

Paula Magalhães

2

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11 December 2017

Laura Guimarães

4

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11 December 2017

Cristina Januário

5

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11 December 2017

Isabel Gaspar

6

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11 December 2017

Leal Loureiro

7

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11 December 2017

José Vale

8

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11 December 2017

Marina Magalhães

11

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11 December 2017

1 November 2003

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European Journal of Human Genetics

11 December 2017

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11 December 2017

11

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11 December 2017

11

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11 December 2017

872-878

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201055

11 December 2017

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cites work

Huntington's disease. Pathogenesis and management

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Family history and DNA analysis in patients with suspected Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Huntington disease phenocopy is a familial prion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Late-onset Huntington's disease: a clinical and molecular study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Mutation size and age at onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

Uptake of genetic testing for cancer predisposition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

7 January 2021

Laboratory Guidelines for Huntington Disease Genetic Testing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

7 January 2021

One hundred requests for predictive testing for Huntington's disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

7 January 2021

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201055

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201055

1 reference

Dimensions Publication ID

11 December 2017

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1 reference