Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy (Q35889021)

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25 October 2019

title

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy (English)

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25 October 2019

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T Ashizawa

1

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25 October 2019

M Anvret

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25 October 2019

M Baiget

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25 October 2019

J M Barceló

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25 October 2019

H Brunner

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25 October 2019

A M Cobo

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25 October 2019

B Dallapiccola

7

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25 October 2019

R G Fenwick

8

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25 October 2019

U Grandell

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25 October 2019

H Harley

10

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25 October 2019

language of work or name

English

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publication date

1 March 1994

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American Journal of Human Genetics

25 October 2019

published in

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25 October 2019

volume

54

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25 October 2019

page(s)

414-423

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25 October 2019

issue

3

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Negative expansion of the myotonic dystrophy unstable sequence.

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=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Somatic instability of CTG repeat in myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

A study of DNA methylation in myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Anticipation in myotonic dystrophy: fact or fiction?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Genetic risks for children of women with myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Anticipation in myotonic dystrophy: new light on an old problem

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the 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=1918128

Presymptomatic diagnosis of myotonic dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918128

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

24 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1 reference

12 December 2020

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

1 reference

12 December 2020

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

1 reference

12 December 2020

Unstable DNA sequence in myotonic dystrophy

1 reference

12 December 2020

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

1 reference

12 December 2020

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

1 reference

12 December 2020

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy

1 reference

12 December 2020

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker

1 reference

12 December 2020

Brief report: reverse mutation in myotonic dystrophy

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12 December 2020

1 reference

12 December 2020

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

1 reference

12 December 2020

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

1 reference

12 December 2020

Identifiers

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25 October 2019

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