Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes (Q37186056)

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25 February 2020

title

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes (English)

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25 February 2020

0 references

0 references

1

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25 February 2020

Michael R. Hayden

9

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25 February 2020

author name string

Chris Kay

2

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25 February 2020

Maria E Ketelaar

3

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25 February 2020

Jennifer A Collins

4

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25 February 2020

Alicia Semaka

5

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25 February 2020

Crystal N Doty

6

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25 February 2020

Amanda Krause

7

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25 February 2020

L Jacquie Greenberg

8

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25 February 2020

publication date

6 March 2013

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European Journal of Human Genetics

25 February 2020

published in

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25 February 2020

volume

21

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25 February 2020

issue

10

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25 February 2020

page(s)

1120-1127

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Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin

25 February 2020

cites work

1 reference

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The clinical and genetic features of Huntington disease

6 September 2017

1 reference

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

6 September 2017

1 reference

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Factors associated with HD CAG repeat instability in Huntington disease

6 September 2017

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6 September 2017

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

6 September 2017

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Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

6 September 2017

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Repeat instability: mechanisms of dynamic mutations

6 September 2017

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

6 September 2017

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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

6 September 2017

1 reference

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

6 September 2017

1 reference

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A New Statistical Method for Haplotype Reconstruction from Population Data

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Trinucleotide repeat length instability and age of onset in Huntington's disease

6 September 2017

1 reference

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Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease

6 September 2017

1 reference

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Huntington disease in Maryland: clinical aspects of racial variation

6 September 2017

1 reference

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Medical genetics in South Africa

6 September 2017

1 reference

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The epidemiology of Huntington's disease

6 September 2017

1 reference

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HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

6 September 2017

1 reference

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Haplotype background, repeat length evolution, and Huntington's disease

26 June 2018

1 reference

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Huntington's disease: the case for genetic modifiers

26 June 2018

1 reference

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Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients

26 June 2018

1 reference

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

26 June 2018

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Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity

26 June 2018

1 reference

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The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa

26 June 2018

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Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).

3 September 2018

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A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

3 September 2018

1 reference

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Predictive testing for Huntington disease in a developing country.

3 September 2018

1 reference

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Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds

3 September 2018

1 reference

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A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.

3 September 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.

3 September 2018

1 reference

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Huntington's disease confirmed by genetic testing in five African families

3 September 2018

1 reference

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

3 September 2018

1 reference

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

3 September 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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778359

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778359

The origin of Huntington's chorea in the Afrikaner population of South Africa

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778359

The prevalence of Huntington's chorea in South Africa

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778359

3 September 2018

Identifiers

DOI

10.1038/EJHG.2013.2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463025%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463025%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

PubMed publication ID

23463025

1 reference