Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family (Q33674709)

28 July 2017

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family (English)

1 reference

28 July 2017

1 reference

de Die-Smulders CE

1

1 reference

28 July 2017

Höweler CJ

2

1 reference

28 July 2017

Mirandolle JF

3

1 reference

28 July 2017

Brunner HG

4

1 reference

28 July 2017

Hovers V

5

1 reference

28 July 2017

Brüggenwirth H

6

1 reference

28 July 2017

Smeets HJ

7

1 reference

28 July 2017

Geraedts JP

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 August 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

8

1 reference

28 July 2017

595-601

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

Myotonic dystrophy reviewed: back to the future?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

Characteristics of intergenerational contractions of the CTG repeat 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=1050019

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

Reversal of developmental delays in iron-deficient anaemic infants treated with iron

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

Anticipation in myotonic dystrophy: fact or fiction?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

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=1050019

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=1050019

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=1050019

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=1050019

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=1050019

Presymptomatic 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=1050019

The correlation of age of onset with CTG trinucleotide repeat amplification 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=1050019

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=1050019

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=1050019

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=1050019

Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

Myotonic dystrophy. Predictive value of normal results on clinical examination.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050019

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

30 October 2018

1 reference

12 December 2020

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

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

Detection of minimum mutation carriers 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

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

1 reference

12 December 2020

Brief report: reverse mutation in myotonic dystrophy

1 reference

12 December 2020

Intergenerational stability of the myotonic dystrophy protomutation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.8.595

1 reference

28 July 2017

1 reference

28 July 2017

1 reference