(Q57200516)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695533%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695533%20AND%20SRC:MED&resulttype=core&format=json

Becker muscular dystrophy

17 November 2019

main subject

1 reference

1

1 reference

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17 November 2019

author name string

Rolf Vossen

3

1 reference

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17 November 2019

Marian Kraak

5

1 reference

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17 November 2019

Egbert Bakker

8

1 reference

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17 November 2019

Inge M Mulder

2

1 reference

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17 November 2019

Pia A M de Koning-Gans

4

1 reference

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17 November 2019

Ieke B Ginjaar

6

1 reference

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17 November 2019

Annemarie H van der Hout

7

1 reference

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17 November 2019

Charles H C M Buys

9

1 reference

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17 November 2019

Gert-Jan B van Ommen

10

1 reference

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17 November 2019

Anthonie J van Essen

11

1 reference

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17 November 2019

Johan T den Dunnen

12

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17 November 2019

publication date

1 January 2004

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17 November 2019

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17 November 2019

volume

23

1 reference

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17 November 2019

issue

1

1 reference

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17 November 2019

page(s)

57-66

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Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

17 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Prevalence and incidence of Becker muscular dystrophy

1 reference

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7 January 2021

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Rapid direct sequence analysis of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Muscle type promoter and its first intron abnormalities in dystrophin gene in patients with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

A refined restriction map of YAC clones spanning the entire human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Dystrophin gene transcripts skipping the mdx mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10283

7 January 2021

Identifiers

DOI

10.1002/HUMU.10283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695533%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference