Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (Q36116293)

12 August 2017

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (English)

1 reference

12 August 2017

Payam Soltanzadeh

4

0 references

Veronica J Hinton

Veronica J Hinton

26

0 references

Anne Connolly

Anne M Connolly

13

0 references

Kevin M. Flanigan

Kevin M Flanigan

1

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Katherine Mathews

Katherine D Mathews

14

0 references

author name string

Diane M Dunn

2

1 reference

12 August 2017

Andrew von Niederhausern

3

1 reference

12 August 2017

Eduard Gappmaier

5

1 reference

12 August 2017

Michael T Howard

6

1 reference

12 August 2017

Jacinda B Sampson

7

1 reference

12 August 2017

Jerry R Mendell

8

1 reference

12 August 2017

Cheryl Wall

9

1 reference

12 August 2017

Wendy M King

10

1 reference

12 August 2017

Alan Pestronk

11

1 reference

12 August 2017

Julaine M Florence

12

1 reference

12 August 2017

Carrie M Stephan

15

1 reference

12 August 2017

Karla S Laubenthal

16

1 reference

12 August 2017

Brenda L Wong

17

1 reference

12 August 2017

Paula J Morehart

18

1 reference

12 August 2017

Amy Meyer

19

1 reference

12 August 2017

Richard S Finkel

20

1 reference

12 August 2017

Carsten G Bonnemann

21

1 reference

12 August 2017

Livija Medne

22

1 reference

12 August 2017

John W Day

23

1 reference

12 August 2017

Joline C Dalton

24

1 reference

12 August 2017

Marcia K Margolis

25

1 reference

12 August 2017

United Dystrophinopathy Project Consortium

27

1 reference

12 August 2017

Robert B Weiss

28

1 reference

12 August 2017

1 December 2009

1 reference

12 August 2017

1 reference

12 August 2017

30

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12 August 2017

12

1 reference

12 August 2017

1657-1666

1 reference

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

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Genome-wide detection and characterization of positive selection in human populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Initial sequence of the chimpanzee genome and comparison with the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Rapid direct sequence analysis of the dystrophin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Human non-synonymous SNPs: server and survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Disease-causing mutations in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Use of mutation spectra analysis software.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Contrasting evolutionary histories of two introns of the duchenne muscular dystrophy gene, Dmd, in humans.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Recent human germ-line mutation: inferences from patients with hemophilia B.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404892

Duplications in the DMD gene

21 October 2018

1 reference

12 December 2020

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

12 December 2020

DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene

1 reference

12 December 2020

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21114

7 January 2021

inferred from DOI database lookup

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21114

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.21114

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

19937601

1 reference