(Q45307339)

11 December 2017

title

Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation (English)

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11 December 2017

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Irene Paradisi

1

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11 December 2017

Alba Hernández

series ordinal

2

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11 December 2017

Sergio Arias

series ordinal

3

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11 December 2017

publication date

22 December 2007

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Journal of Human Genetics

11 December 2017

published in

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11 December 2017

volume

53

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11 December 2017

issue

2

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11 December 2017

page(s)

127-135

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Americo Negrette (1924 to 2003): diagnosing Huntington disease in Venezuela

11 December 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0227-1

Huntington disease: DNA analysis in Brazilian population

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0227-1

Huntington's disease in Venezuela: neurologic features and functional decline

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0227-1

CAG repeat number governs the development rate of pathology in Huntington's disease

21 January 2018

1 reference

12 December 2020

Why is the study of Huntington's disease important in Venezuela?

1 reference

12 December 2020

Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals

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12 December 2020

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

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12 December 2020

The statistical analysis of mitochondrial DNA polymorphisms: chi 2 and the problem of small samples.

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12 December 2020

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

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12 December 2020

Analysis of the (CAG)n repeat causing Huntington's disease in a Mexican population.

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12 December 2020

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis

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12 December 2020

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.

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12 December 2020

Late-onset and typical Huntington disease families from Crete have distinct genetic origins

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12 December 2020

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

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12 December 2020

A polymorphic DNA marker genetically linked to Huntington's disease

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12 December 2020

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

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12 December 2020

Homozygotes for Huntington's disease

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12 December 2020

8 genealogic trees of families with Huntington's chorea in Cañete (Peru)

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12 December 2020

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

12 December 2020

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

1 reference

12 December 2020

Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders

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12 December 2020

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

1 reference

12 December 2020

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

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12 December 2020

DNA Markers for Nervous System Diseases

1 reference

12 December 2020

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

1 reference

12 December 2020

Genetic link between Asians and native Americans: evidence from HLA genes and haplotypes

1 reference

12 December 2020

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.

1 reference

12 December 2020

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

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12 December 2020

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease

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12 December 2020

A focus of Huntington's chorea in Peru

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12 December 2020

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

1 reference

12 December 2020

10.1007/S10038-007-0227-1

Identifiers

DOI

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Dimensions Publication ID

11 December 2017

1013254299

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