(Q33672778)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

1 reference

linkage disequilibrium

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Jean-Pierre Rabès

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Sandrine Luce

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

C Lavedan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

H Hofmann-Radvanyi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

C Bonaïti-Pellié

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

D Savoy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

P Shelbourne

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

C Duros

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

I Dehaupas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

language of work or name

English

0 references

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

31

1 reference

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26 October 2019

issue

1

1 reference

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26 October 2019

page(s)

33-36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

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

26 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=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Anticipation in myotonic dystrophy: fact or fiction?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

RFLP for a DNA clone which maps to 19q13.2-19qter (D19S63).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049595

Criteria for establishing the validity of genetic recombination in myotonic dystrophy

30 October 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

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

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.31.1.33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8151634%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

PubMed publication ID

8151634

1 reference