(Q57949883)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18301445%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias (English)

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3 January 2020

5

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3 January 2020

author name string

Sara Seneca

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18301445%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Michael A Morris

2

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3 January 2020

Simon Patton

3

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3 January 2020

Rob Elles

4

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3 January 2020

publication date

27 February 2008

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18301445%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 January 2020

published in

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3 January 2020

volume

16

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3 January 2020

page(s)

913-920

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3 January 2020

issue

8

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.29

3 January 2020

exact match

0 references

cites work

Role of external quality assurance schemes in assessing and improving quality in medical laboratories

1 reference

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Quality control in molecular genetic testing

21 January 2018

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External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years

21 January 2018

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External quality assurance of molecular analysis of haemochromatosis gene mutations

21 January 2018

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Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Improvement in the molecular diagnosis of Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

External quality assurance of DNA testing for thrombophilia mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.29

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18301445%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference