Huntington disease without CAG expansion: phenocopies or errors in assignment? (Q35889330)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8178825%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Huntington disease without CAG expansion: phenocopies or errors in assignment? (English)

1 reference

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26 October 2019

0 references

Andrew SE

1

1 reference

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26 October 2019

Goldberg YP

2

1 reference

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26 October 2019

Kremer B

3

1 reference

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26 October 2019

Squitieri F

4

1 reference

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26 October 2019

Theilmann J

5

1 reference

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26 October 2019

Zeisler J

6

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26 October 2019

Telenius H

7

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26 October 2019

Adam S

8

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26 October 2019

Almquist E

9

1 reference

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26 October 2019

Anvret M

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26 October 2019

language of work or name

English

0 references

publication date

1 May 1994

1 reference

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American Journal of Human Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

54

1 reference

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26 October 2019

issue

5

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26 October 2019

page(s)

852-863

1 reference

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

26 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Positron emission tomography in the early diagnosis of Huntington's disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

A highly polymorphic locus very tightly linked to the Huntington's disease gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Recombination of 4p16 DNA markers in an unusual family with Huntington disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

A dinucleotide repeat polymorphism at the D4S127 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918249

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8178825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

"Compensated hydrocephalus" (author's transl)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8178825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8178825%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference