(Q42656766)

4 November 2017

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats (English)

1 reference

4 November 2017

1 reference

A Goldman

1

1 reference

4 November 2017

M Ramsay

series ordinal

2

1 reference

4 November 2017

T Jenkins

series ordinal

3

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 January 1994

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

31

1 reference

4 November 2017

37-40

1 reference

4 November 2017

1

1 reference

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

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Triplet repeat mutations in human disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Dynamic mutations: a new class of mutations causing human disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Instability versus predictability: the molecular diagnosis of myotonic dystrophy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

The Huntington's disease candidate region exhibits many different haplotypes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049596

27 July 2018

DNA in heritable disease

1 reference

12 December 2020

Ethnic distribution of myotonic dystrophy gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence of founder chromosomes in fragile X syndrome

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.1.37

1 reference

4 November 2017

1 reference

4 November 2017

1 reference