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Duplications in the DMD gene
scientific article published on 01 September 2006
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
title
Duplications in the DMD gene
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
author
Kevin M. Flanigan
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
author name string
White SJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Aartsma-Rus A
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Weiss RB
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Kneppers AL
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Lalic T
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Janson AA
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Ginjaar HB
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
Breuning MH
series ordinal
9
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
den Dunnen JT
series ordinal
10
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
publication date
1 September 2006
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
volume
27
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
issue
9
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
page(s)
938-945
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.
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7 January 2021
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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
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7 January 2021
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
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7 January 2021
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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
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7 January 2021
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Segmental duplications: an 'expanding' role in genomic instability and disease
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7 January 2021
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Rapid direct sequence analysis of the dystrophin gene
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7 January 2021
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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
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Exploiting the natural diversity in adenovirus tropism for therapy and prevention of disease
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7 January 2021
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Pathways for mitotic homologous recombination in mammalian cells
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7 January 2021
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A partial hprt gene duplication generated by non-homologous recombination in V79 Chinese hamster cells is eliminated by homologous recombination
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7 January 2021
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Rapid detection of BRCA1 mutations by the protein truncation test
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7 January 2021
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Partial gene duplication in Duchenne and Becker muscular dystrophies
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7 January 2021
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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.
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7 January 2021
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Structure of chromosomal duplicons and their role in mediating human genomic disorders
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High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
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7 January 2021
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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
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Deletion and duplication screening in the DMD gene using MLPA.
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7 January 2021
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Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse
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7 January 2021
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
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7 January 2021
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Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications
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7 January 2021
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Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion
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Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins
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7 January 2021
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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
based on heuristic
inferred from DOI database lookup
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
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inferred from DOI database lookup
Molecular mechanisms for constitutional chromosomal rearrangements in humans
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
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Genome architecture, rearrangements and genomic disorders
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
based on heuristic
inferred from DOI database lookup
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
based on heuristic
inferred from DOI database lookup
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
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inferred from DOI database lookup
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
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7 January 2021
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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
1 reference
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Crossref
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7 January 2021
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Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20367
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20367
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
PubMed ID
16917894
1 reference
stated in
Europe PubMed Central
PubMed ID
16917894
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917894%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 December 2019
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