High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles (Q34145392)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712199%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles (English)

1 reference

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4 November 2019

6

1 reference

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4 November 2019

Isabel Silveira

1

1 reference

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4 November 2019

Isabel Alonso

2

1 reference

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4 November 2019

L Guimarães

3

1 reference

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4 November 2019

Clara Barbot

9

1 reference

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4 November 2019

Paula Coutinho

13

1 reference

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4 November 2019

Jorge Sequeiros

14

1 reference

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4 November 2019

author name string

Mendonça P

4

1 reference

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4 November 2019

Santos C

5

1 reference

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4 November 2019

Fidalgo De Matos JM

7

1 reference

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4 November 2019

Costa M

8

1 reference

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4 November 2019

Tuna A

10

1 reference

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4 November 2019

Barros J

11

1 reference

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4 November 2019

Jardim L

12

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4 November 2019

language of work or name

English

0 references

publication date

1 March 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712199%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

66

1 reference

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4 November 2019

page(s)

830-840

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4 November 2019

issue

3

1 reference

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Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

5 July 2018

1 reference

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Instability in the normal CTG repeat range at the myotonic dystrophy locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Instability of normal (CTG)n alleles in the DM kinase gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Progressive ataxia due to a missense mutation in a calcium-channel gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

The gene for Machado-Joseph disease maps to human chromosome 14q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Normal variation at the myotonic dystrophy locus in global human populations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288166

Origin of the expansion mutation in myotonic dystrophy

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10712199

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712199%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712199%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference