(Q33593859)

28 July 2017

title

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene (English)

1 reference

chromosomal deletion syndrome

28 July 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552558

8 October 2022

author name string

S. Abbs

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552558

8 October 2022

M. Bobrow

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552558

8 October 2022

language of work or name

English

0 references

publication date

1 March 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015896

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1552558

https://europepmc.org/articles/PMC1015896?pdf=render

8 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%3A1552558

Journal of Medical Genetics

8 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

191-196

1 reference

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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=1015896

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

Carrier detection and prenatal diagnosis in 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=1015896

Correlation of clinical and deletion data in 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=1015896

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

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=1015896

Germline mosaicism and Duchenne muscular dystrophy mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015896

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

30 October 2018

1 reference

12 December 2020

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

1 reference

12 December 2020

Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides

1 reference

12 December 2020

Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.3.191

1 reference

28 July 2017

1 reference

28 July 2017

1 reference