(Q33596051)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Gametic but not somatic instability of CAG repeat length in Huntington's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

0 references

6

1 reference

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25 October 2019

author name string

M E MacDonald

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

G Barnes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J Srinidhi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

M P Duyao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

C M Ambrose

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J Gray

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

P M Conneally

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

A Young

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J Penney

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 December 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

12

1 reference

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25 October 2019

page(s)

982-986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

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

25 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=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Huntington's disease. Pathogenesis and management

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Triplet repeat mutations in human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Fragile-X syndrome: unique genetics of the heritable unstable element

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Instability versus predictability: the molecular diagnosis of myotonic dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016628

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

28 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8133508

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unstable DNA sequence in myotonic dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8133508

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.12.982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8133508%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

8133508

1 reference