Duplications in the DMD gene (Q80135953)

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29 December 2019

title

Duplications in the DMD gene (English)

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29 December 2019

3

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author name string

White SJ

1

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29 December 2019

Aartsma-Rus A

2

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29 December 2019

Weiss RB

4

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29 December 2019

Kneppers AL

5

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29 December 2019

Lalic T

6

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29 December 2019

Janson AA

7

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29 December 2019

Ginjaar HB

8

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29 December 2019

Breuning MH

9

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29 December 2019

den Dunnen JT

10

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29 December 2019

publication date

1 September 2006

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29 December 2019

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29 December 2019

volume

27

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29 December 2019

issue

9

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29 December 2019

page(s)

938-945

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Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

29 December 2019

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Measurement of locus copy number by hybridisation with amplifiable probes

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Alu repeats and human disease

1 reference

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Segmental duplications: an 'expanding' role in genomic instability and disease

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Rapid direct sequence analysis of the dystrophin gene

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https://api.crossref.org/works/10.1002%2FHUMU.20367

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.20367

7 January 2021

Exploiting the natural diversity in adenovirus tropism for therapy and prevention of disease

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7 January 2021

Pathways for mitotic homologous recombination in mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

A partial hprt gene duplication generated by non-homologous recombination in V79 Chinese hamster cells is eliminated by homologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Rapid detection of BRCA1 mutations by the protein truncation test

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7 January 2021

Partial gene duplication in Duchenne and Becker muscular dystrophies

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Structure of chromosomal duplicons and their role in mediating human genomic disorders

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Deletion and duplication screening in the DMD gene using MLPA.

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Genome architecture, rearrangements and genomic disorders

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https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20367

7 January 2021

Identifiers

DOI

10.1002/HUMU.20367

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference