(Q34815369)

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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

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Europe PubMed Central

PubMed publication ID

4 August 2017

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

muscular dystrophy

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Christine M. Eng

11

object named as

Christine M Eng

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4 August 2017

author name string

Daniela del Gaudio

1

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Europe PubMed Central

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4 August 2017

Yaping Yang

2

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Europe PubMed Central

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4 August 2017

Barbara A Boggs

3

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Europe PubMed Central

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4 August 2017

Eric S Schmitt

4

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4 August 2017

Jennifer A Lee

5

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Europe PubMed Central

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4 August 2017

Trilochan Sahoo

6

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Europe PubMed Central

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4 August 2017

Hoang T Pham

7

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Europe PubMed Central

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4 August 2017

Joanna Wiszniewska

8

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4 August 2017

A Craig Chinault

9

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4 August 2017

Arthur L Beaudet

10

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4 August 2017

publication date

1 September 2008

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4 August 2017

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4 August 2017

29

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4 August 2017

9

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4 August 2017

1100-1107

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Europe PubMed Central

PubMed publication ID

4 August 2017

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic microarrays in human genetic disease and cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

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https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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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

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Efficient calculation of interval scores for DNA copy number data analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3' region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Lamin B1 duplications cause autosomal dominant leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Copy-number variation in control population cohorts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunoelectron microscopic localization of dystrophin in myofibres

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

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

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

An alternative to FISH: detecting deletion and duplication carriers within 24 hours

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20841

7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20841

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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