Clinical Utility Gene Card for: Becker muscular dystrophy. (Q54269189)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29467387 AND SRC:MED&resulttype=core&format=json

17 March 2020

title

Clinical Utility Gene Card for: Becker muscular dystrophy (English)

1 reference

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17 March 2020

5

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17 March 2020

author name string

David Coote

1

1 reference

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17 March 2020

Mark R Davis

2

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17 March 2020

Macarena Cabrera

3

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17 March 2020

Merrilee Needham

4

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17 March 2020

Kristen J Nowak

6

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17 March 2020

publication date

21 February 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29467387 AND SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

17 March 2020

published in

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17 March 2020

volume

26

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17 March 2020

issue

7

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17 March 2020

page(s)

1065-1071

1 reference

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Pharmacological advances for treatment in Duchenne muscular dystrophy

17 March 2020

cites work

1 reference

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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

25 August 2018

1 reference

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Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

25 August 2018

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RNAseq analysis for the diagnosis of muscular dystrophy

25 August 2018

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X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

25 August 2018

1 reference

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Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

25 August 2018

1 reference

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Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy

25 August 2018

1 reference

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Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization

25 August 2018

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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

25 August 2018

1 reference

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Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

A population-based study of dystrophin mutations in Canada.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Pseudometabolic presentation of dystrophinopathy due to a missense mutation

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Cardiac involvement in Becker muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Rapid direct sequence analysis of the dystrophin gene

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Newborn screening for Duchenne muscular dystrophy: a psychosocial study

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Prednisone therapy in Becker's muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Quadriceps myopathy: forme fruste of Becker muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Dystrophin in frameshift deletion patients with Becker muscular dystrophy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6018697

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

2 November 2018

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

Prevalence and incidence of Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

DMD and BMD in the same family due to two distinct mutations

1 reference

https://api.crossref.org/works/10.1038/S41431-017-0064-4

7 January 2021

Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29467387

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41431-017-0064-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29467387 AND SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29467387 AND SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

29467387

1 reference