(Q33679539)

28 July 2017

title

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

1 reference

Becker muscular dystrophy

28 July 2017

main subject

1 reference

inferred from title

author

Annemarie H van der Hout

3

object named as

van der Hout AH

1 reference

28 July 2017

van Essen AJ

1

1 reference

28 July 2017

Kneppers AL

2

1 reference

28 July 2017

Scheffer H

4

1 reference

28 July 2017

Ginjaar IB

5

1 reference

28 July 2017

ten Kate LP

6

1 reference

28 July 2017

van Ommen GJ

7

1 reference

28 July 2017

Buys CH

8

1 reference

28 July 2017

Bakker E

9

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

805-812

1 reference

Mutations in the sarcoglycan genes in patients with myopathy

28 July 2017

cites work

1 reference

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Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

21 June 2018

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Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene

21 June 2018

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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

21 June 2018

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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

21 June 2018

1 reference

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Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins

21 June 2018

1 reference

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Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child

21 June 2018

1 reference

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Can nucleated erythrocytes found in maternal venous blood be used in the noninvasive prenatal diagnosis of fetal chromosome abnormalities?

21 June 2018

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The rapid detection of unknown mutations in nucleic acids.

21 June 2018

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Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

21 June 2018

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Gene therapy prospects for Duchenne muscular dystrophy

21 June 2018

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On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

21 June 2018

1 reference

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Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

21 June 2018

1 reference

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Deletion patterns of Duchenne and Becker muscular dystrophies in Greece

21 June 2018

1 reference

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Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

21 June 2018

1 reference

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Recurrence risk for germinal mosaics revisited

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Molecular analysis of Duchenne muscular dystrophy: past, present, and future.

21 June 2018

1 reference

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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=1051085

Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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=1051085

Germinal mosaicism increases the recurrence risk for 'new' 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=1051085

Carrier detection and prenatal diagnosis of Duchenne/Becker muscular dystrophy (D/BMD) by DNA-analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

The DMD gene analysed by field inversion gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD 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=1051085

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=1051085

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=1051085

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of 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=1051085

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=1051085

Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Theoretical considerations on germline mosaicism 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=1051085

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=1051085

Somatic mosaicism at the Duchenne locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Improved diagnosis of Duchenne/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=1051085

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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=1051085

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin 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=1051085

Utility of PCR for DNA analysis from dried blood spots on filter paper blotters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin 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=1051085

Point mutations in the dystrophin 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=1051085

Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/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=1051085

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Mutational analysis of muscle and brain specific promoter regions of dystrophin gene in DMD/BMD Italian patients by denaturing gradient gel electrophoresis (DGGE).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Detection of carriers of benign X-linked muscular dystrophy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

Germline mosaicism and Duchenne muscular dystrophy mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051085

The effect of pregnancy on serum levels of creatine kinase

30 October 2018

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

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

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

Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy

1 reference

12 December 2020

The glomerular sieving of pepsinogen A and C in man

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

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

1 reference

12 December 2020

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

1 reference

12 December 2020

Characterisation of dystrophin in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Germinal ?mosaicism? ? germline mutation or chimerism?

1 reference

12 December 2020

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

1 reference

12 December 2020

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

12 December 2020

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

1 reference

12 December 2020

Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy

1 reference

12 December 2020

Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis

1 reference

12 December 2020

Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy

1 reference

12 December 2020

Preimplantation diagnosis

1 reference

12 December 2020

Single-blind study of dystrophin staining in carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk"

1 reference

12 December 2020

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

1 reference

12 December 2020

Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry

1 reference

12 December 2020

Report on the 16th ENMC workshop--carrier diagnosis of Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection

1 reference

12 December 2020

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Mutation of dystrophin gene and cardiomyopathy

1 reference

12 December 2020

Novel small mutations along the DMD/BMD gene associated with different phenotypes

1 reference

12 December 2020

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene

1 reference

12 December 2020

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts

1 reference

12 December 2020

Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

1 reference

12 December 2020

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

1 reference

12 December 2020

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

1 reference

12 December 2020

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

1 reference

12 December 2020

In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy

1 reference

12 December 2020

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis

1 reference

12 December 2020

Spectrum of small mutations in the dystrophin coding region

1 reference

12 December 2020

Preimplantation diagnosis

1 reference

12 December 2020

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

1 reference

12 December 2020

Carrier detection in sex-linked muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.10.805

1 reference

release_ots6xqdk2jhfvk6yjkqmi5h44e

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ots6xqdk2jhfvk6yjkqmi5h44e

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1051085

1 reference

28 July 2017

1 reference