Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset (Q37073913)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

title

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

1 reference

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24 November 2019

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12

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J. Michael Andresen

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Jane S. Paulsen

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Bernhard Landwehrmeyer

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James Gusella

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Marcy MacDonald

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24

Steven Hersch

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Ira Shoulson

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Jack B Penney

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Carol Moskowitz

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Juan Sanchez Ramos

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Andrew Feigin

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Leon Dure

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Penelope Hogarth

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Nancy S Wexler

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Javier Gayán

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Denise Brocklebank

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29

David E Housman

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54

Denise Krch

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24 November 2019

author name string

Judith Lorimer

2

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Julie Porter

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24 November 2019

Fidela Gomez

4

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Edith Shackell

6

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Graciela Penchaszadeh

8

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Simone A Roberts

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Lon R Cardon

13

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Jacqueline Gray

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Stephen R Dlouhy

15

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Sandra Wiktorski

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Marion E Hodes

17

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P Michael Conneally

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Jang-Ho Cha

21

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Michael Irizarry

22

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Diana Rosas

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Zane Hollingsworth

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Anne B Young

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24 November 2019

Margot Mieja De Young

30

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Ernesto Bonilla

31

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24 November 2019

Theresa Stillings

32

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Americo Negrette

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S Robert Snodgrass

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Maria Dolores Martinez-Jaurrieta

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Maria A Ramos-Arroyo

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Jacqueline Bickham

37

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Frederick Marshall

39

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Gustavo J Rey

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Norman Arnheim

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Amarilis Acevedo-Cruz

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Leticia Acosta

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Jose Alvir

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Leslie M Thompson

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Angela Young

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24 November 2019

Christopher J O'Brien

51

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Adam Brickman

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Shelley Peery

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Donald S Higgins

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24 November 2019

U.S.-Venezuela Collaborative Research Project

59

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language of work or name

English

0 references

publication date

1 March 2004

1 reference

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Proceedings of the National Academy of Sciences of the United States of America

24 November 2019

published in

1 reference

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24 November 2019

volume

101

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24 November 2019

page(s)

3498-3503

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24 November 2019

issue

10

1 reference

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

24 November 2019

cites work

1 reference

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29 September 2017

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29 September 2017

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29 September 2017

1 reference

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29 September 2017

1 reference

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Family and molecular data for a fine analysis of age at onset in Huntington disease.

29 September 2017

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29 September 2017

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A general test of association for quantitative traits in nuclear families

29 September 2017

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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A polymorphic DNA marker genetically linked to Huntington's disease

29 September 2017

1 reference

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

29 September 2017

1 reference

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27 June 2018

1 reference

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

27 June 2018

1 reference

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Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

27 June 2018

1 reference

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Familial influence on age of onset among siblings with Huntington disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

4 September 2018

1 reference

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Direct amplification of the CAG repeat of huntingtin without amplification of CCG.

4 September 2018

1 reference

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

4 September 2018

1 reference

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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

4 September 2018

1 reference

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Pedigree tests of transmission disequilibrium

4 December 2018

1 reference

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4 December 2018

Identifiers

DOI

10.1073/PNAS.0308679101

1 reference

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24 November 2019

0 references

1 reference

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24 November 2019

1 reference