Reassessing carrier status for dystrophinopathies (Q42386733)

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scientific article published on 5 October 2016

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Language	Label	Description	Also known as
English	Reassessing carrier status for dystrophinopathies	scientific article published on 5 October 2016

Statements

instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

editorial

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title

Reassessing carrier status for dystrophinopathies (English)

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Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

author name string

Tara M Newcomb

series ordinal

1

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Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

Kevin M Flanigan

series ordinal

2

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Europe PubMed Central

PMC publication ID

5053119

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29 October 2017

publication date

5 October 2016

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Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

published in

Neurology. Genetics

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stated in

Europe PubMed Central

PMC publication ID

5053119

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29 October 2017

volume

2

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Europe PubMed Central

PMC publication ID

5053119

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29 October 2017

issue

5

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Europe PubMed Central

PMC publication ID

5053119

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29 October 2017

page(s)

e108

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Europe PubMed Central

PMC publication ID

5053119

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29 October 2017

cites work

Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

retrieved

28 May 2018

Microarray-based mutation detection in the dystrophin gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

retrieved

28 May 2018

2004 William Allan Award address. Cloning of the DMD gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

retrieved

28 May 2018

MUSCLE HISTOLOGY IN CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY.

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

retrieved

28 May 2018

Rapid direct sequence analysis of the dystrophin gene

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

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

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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28 May 2018

Molecular diagnosis of Duchenne muscular dystrophy

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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16 August 2018

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5053119

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16 August 2018

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/27761523

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/27761523

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/27761523

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/27761523

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/27761523

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/NXG.0000000000000108

1 reference

stated in

Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

PMC publication ID

5053119

1 reference

stated in

Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

PubMed publication ID

27761523

1 reference

stated in

Europe PubMed Central

PMC publication ID

5053119

retrieved

29 October 2017

 

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