(Q35194738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Negative expansion of the myotonic dystrophy unstable sequence (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

Abeliovich D

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Lerer I

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Pashut-Lavon I

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Shmueli E

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Raas-Rothschild A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Frydman M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 June 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

1175-1181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

NcoI and TaqI RFLPs for human M creatine kinase (CKM)

13 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=1682287

AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682287

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=1682287

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682287

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=1682287

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=1682287

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=1682287

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=1682287

Instability versus predictability: the molecular 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=1682287

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=1682287

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=1682287

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=1682287

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=1682287

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

28 July 2018

1 reference

12 December 2020

A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy

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

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503449%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8503449

1 reference