(Q35194055)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

4

1 reference

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24 October 2019

Sandrine Luce

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

Lavedan C

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Hofmann-Radvanyi H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Shelbourne P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Duros C

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Savoy D

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Dehaupas I

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Johnson K

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Junien C

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

English

0 references

publication date

1 May 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

52

1 reference

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24 October 2019

issue

5

1 reference

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24 October 2019

page(s)

875-883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2

24 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=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Genetic risks for children of women with myotonic dystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Identification of new DNA markers close to the myotonic dystrophy locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Anticipation in myotonic dystrophy: new light on an old problem

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Triplet repeat mutations in human disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682032

Expansion of unstable DNA region in Japanese myotonic dystrophy patients

28 July 2018

1 reference

12 December 2020

Unstable DNA sequence in myotonic dystrophy

1 reference

12 December 2020

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

12 December 2020

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

1 reference

12 December 2020

Dystrophia myotonica in childhood

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8098180%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

8098180

1 reference