(Q45305185)

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Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease (English)

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Huntington's disease

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Peter de Knijff

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

A Maat-Kievit

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

P Helderman-van den Enden

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

M Losekoot

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

R Belfroid

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

M Vegter-van der Vlis

6

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6 December 2019

R Roos

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

M Breuning

8

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Europe PubMed Central

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6 December 2019

publication date

1 December 2001

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Europe PubMed Central

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6 December 2019

American Journal of Medical Genetics Part A

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Europe PubMed Central

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6 December 2019

105

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6 December 2019

8

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6 December 2019

737-744

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6 December 2019

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Origins and evolution of Huntington disease chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

The Huntington's disease candidate region exhibits many different haplotypes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Reduced penetrance of the Huntington's disease mutation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Duration of illness in Huntington's disease is not related to age at onset

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Maternal transmission in sporadic Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

The fragile X syndrome: no evidence for any recent mutations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

The whole truth and nothing but the truth, but what is the truth?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Population genetics of trinucleotide repeat polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Laboratory Guidelines for Huntington Disease Genetic Testing

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1610

21 January 2018

Identifiers

10.1002/AJMG.1610

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11803522%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

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