(Q35194656)

7 August 2017

title

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy (English)

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7 August 2017

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H G Harley

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7 August 2017

S A Rundle

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7 August 2017

J C MacMillan

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7 August 2017

J Myring

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7 August 2017

J D Brook

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7 August 2017

S Crow

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7 August 2017

W Reardon

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7 August 2017

I Fenton

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7 August 2017

D J Shaw

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7 August 2017

P S Harper

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7 August 2017

language of work or name

English

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publication date

1 June 1993

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

1164-1174

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Anticipation in myotonic dystrophy: fact or fiction?

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

Genetic risks for children of women with 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=1682262

Fragile X genotype characterized by an unstable region of DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

Anticipation in myotonic dystrophy: new light on an old problem

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

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=1682262

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=1682262

Minimal expression of myotonic dystrophy: a clinical and molecular analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

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=1682262

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=1682262

Correlation between CTG trinucleotide repeat length and frequency of severe congenital 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=1682262

Myotonic dystrophy. Predictive value of normal results on clinical examination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682262

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

27 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Expansion of unstable DNA region in Japanese myotonic dystrophy patients

1 reference

12 December 2020

Unstable DNA sequence in myotonic dystrophy

1 reference

12 December 2020

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers

1 reference

12 December 2020

Evidence of founder chromosomes in fragile X syndrome

1 reference

12 December 2020

Identifiers

PMC publication ID

1682262

1 reference

7 August 2017

1 reference