(Q33594657)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

title

Expansion of the myotonic dystrophy gene in Italian and Spanish patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

Adolfo López de Munain

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

author name string

S Melchionda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

A Cobo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

L Martorell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

C Fattorini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

M Baiget

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

K Johnson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

P Shelbourne

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

G Novelli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

language of work or name

English

0 references

publication date

1 November 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

15 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

page(s)

789-790

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

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

15 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016172

Criteria for establishing the validity of genetic recombination in myotonic dystrophy

28 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1453428

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1453428

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expansion of unstable DNA region in Japanese myotonic dystrophy patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1453428

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.11.789

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1453428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

PubMed publication ID

1453428

1 reference