(Q35866121)

10 August 2017

Clinical and Genetic Characterization of Female Dystrophinopathy (English)

1 reference

10 August 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Seung Ha Lee

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jung Hwan Lee

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Kyung A Lee

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

28 May 2015

1 reference

Journal of clinical neurology

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

248-251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 3.0 Unported

12 June 2020

copyright license

start time

1 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Clinical and genetic characterization of manifesting carriers of DMD mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Muscle MRI in female carriers of dystrophinopathy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Symptomatic dystrophinopathies in female children.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Dystrophinopathy in isolated cases of myopathy in females

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

Homozygous female Becker muscular dystrophy

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4507379

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

14 November 2018

1 reference

12 December 2020

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

1 reference

12 December 2020

Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection

1 reference

12 December 2020

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

1 reference

12 December 2020

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

1 reference

12 December 2020

10.3988/JCN.2015.11.3.248

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

release_knae4tbagrax7mmtv7m3r7cwnu

12 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/knae4tbagrax7mmtv7m3r7cwnu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

26022459

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26022459%20AND%20SRC:MED&resulttype=core&format=json