(Q48006442)

7 February 2018

title

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

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7 February 2018

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Rabah Ben Yaou

4

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Christophe Beroud

object named as

Christophe Béroud

2

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Mireille Claustres

23

object named as

Mireille Claustres

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7 February 2018

Sylvie Tuffery-Giraud

object named as

Sylvie Tuffery-Giraud

1

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7 February 2018

France Leturcq

3

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7 February 2018

Dalil Hamroun

5

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7 February 2018

Laurence Michel-Calemard

6

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7 February 2018

Marie-Pierre Moizard

7

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7 February 2018

Rafaëlle Bernard

8

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7 February 2018

Mireille Cossée

9

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7 February 2018

Pierre Boisseau

10

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7 February 2018

Martine Blayau

11

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7 February 2018

Isabelle Creveaux

12

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7 February 2018

Anne Guiochon-Mantel

13

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7 February 2018

Bérengère de Martinville

14

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7 February 2018

Christophe Philippe

15

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7 February 2018

Nicole Monnier

16

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7 February 2018

Eric Bieth

17

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7 February 2018

Philippe Khau Van Kien

18

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7 February 2018

François-Olivier Desmet

19

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7 February 2018

Véronique Humbertclaude

20

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7 February 2018

Jean-Claude Kaplan

21

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7 February 2018

Jamel Chelly

22

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7 February 2018

publication date

1 June 2009

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7 February 2018

published in

Human Mutation

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7 February 2018

volume

30

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7 February 2018

issue

6

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7 February 2018

page(s)

934-945

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7 February 2018

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Antisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Are CpG sites mutation hot spots in the dystrophin gene?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

UMD (Universal Mutation Database): 2005 update

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Prevalence and incidence of Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Recommendations for locus-specific databases and their curation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The HUGO Mutation Database Initiative. Human Genome Organization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Molecular mechanisms of muscular dystrophies: old and new players

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Becker muscular dystrophy with onset after 60 years.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The mechanism of human nonhomologous DNA end joining

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Splicing intervention for Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

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.20976

7 January 2021

A meta-analysis of nonsense mutations causing human genetic disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Population data on benign and severe forms of X-linked muscular dystrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Dynamics of co-transcriptional pre-mRNA folding influences the induction of dystrophin exon skipping by antisense oligonucleotides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Duplications in the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20976

7 January 2021

Identifiers

DOI

10.1002/HUMU.20976

1 reference

7 February 2018

1 reference

7 February 2018