Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (Q42496337)

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24 October 2019

title

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (English)

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24 October 2019

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7

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24 October 2019

Lorne Clarke

10

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24 October 2019

author name string

Telenius H

1

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24 October 2019

Kremer B

2

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24 October 2019

Goldberg YP

3

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24 October 2019

Theilmann J

4

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24 October 2019

Andrew SE

5

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24 October 2019

Zeisler J

6

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24 October 2019

Greenberg C

8

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Ives EJ

9

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language of work or name

English

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publication date

1 April 1994

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24 October 2019

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24 October 2019

volume

6

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issue

4

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page(s)

409-414

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https://scigraph.springernature.com/pub.10.1038/ng0494-409

24 October 2019

exact match

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cites work

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

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

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

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Huntington's disease gene (IT15) is widely expressed in human and rat tissues

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Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

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Neuropathological classification of Huntington's disease

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

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

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7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin

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7 January 2021

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

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7 January 2021

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

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7 January 2021

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

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7 January 2021

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

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7 January 2021

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0494-409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8054984%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 October 2019

0 references

1 reference