(Q33673979)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

Molecular deletion analysis in Duchenne muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

author name string

N S Thomas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

P N Ray

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R G Worton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

P S Harper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

language of work or name

English

0 references

publication date

1 December 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

6 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

page(s)

509-515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

6 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=1049831

Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod 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=1049831

The use of flanking markers in prediction for Duchenne 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=1049831

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Cloning of the breakpoint of an X;21 translocation associated with Duchenne 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=1049831

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049831

[A new x-chromosomal muscular dystrophy]

21 June 2018

1 reference

12 December 2020

Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes

1 reference

12 December 2020

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

12 December 2020

Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

12 December 2020

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.23.6.509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2879923%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference