(Q33594351)

28 July 2017

title

Investigation of a female manifesting Becker muscular dystrophy (English)

1 reference

Becker muscular dystrophy

28 July 2017

main subject

1 reference

I. A. Glass

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

L. V. Nicholson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

E. Watkiss

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

M. A. Johnson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

R. G. Roberts

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

S. Abbs

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

S. Brittain-Jones

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

H. G. Boddie

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

4 October 2022

language of work or name

English

0 references

publication date

1 August 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

https://europepmc.org/articles/PMC1016067?pdf=render

4 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1518025

Journal of Medical Genetics

4 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

578-582

1 reference

MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

Primordial cell pool size and lineage relationships of five human cell types

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

Population data on benign and severe forms of X-linked 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=1016067

Duchenne muscular dystrophy in one of monozygotic twin girls

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked 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=1016067

Quadriceps myopathy: forme fruste of Becker 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=1016067

Heterogeneity of dystrophin expression in patients with Duchenne and Becker 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=1016067

Skewed X inactivation in a female MZ twin results in 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=1016067

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

Clinical studies in benign (Becker type) X-linked 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=1016067

Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016067

A study of contractures in muscular dystrophy

30 October 2018

1 reference

12 December 2020

Prevalence and incidence of Becker muscular dystrophy

1 reference

12 December 2020

A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal andmdxmice Immunological evidence

1 reference

12 December 2020

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1 reference

12 December 2020

Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin

1 reference

12 December 2020

Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes

1 reference

12 December 2020

Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy

1 reference

12 December 2020

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

1 reference

12 December 2020

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

The manifesting carrier in Duchenne muscular dystrophy

1 reference

12 December 2020

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.8.578

1 reference

28 July 2017

1 reference

28 July 2017

1 reference