Microarray-based mutation detection in the dystrophin gene.
about
Current and emerging treatment strategies for Duchenne muscular dystrophyDuchenne Muscular Dystrophy: From Diagnosis to TherapyMicroarray experiments and factors which affect their reliabilityExome sequencing of a multigenerational human pedigreeIdentification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesEmpirical evaluation of oligonucleotide probe selection for DNA microarraysTargeted sequencing of the human X chromosome exome.Detection limit of intragenic deletions with targeted array comparative genomic hybridization.Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testingMicroarray-based ultra-high resolution discovery of genomic deletion mutationsDetection of clinically relevant exonic copy-number changes by array CGH.Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacyA Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.Multiplexed nucleic acid-based assays for molecular diagnostics of human disease.Reassessing carrier status for dystrophinopathies.Comparative genomic hybridization and transcriptome sequencing reveal that two genes, OsI_14279 (LOC_Os03g62620) and OsI_10794 (LOC_Os03g14950) regulate the mutation in the γ-rl rice mutant.Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.Molecular diagnosis of Duchenne muscular dystrophy.Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA induces homology-directed DNA repair
P2860
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P2860
Microarray-based mutation detection in the dystrophin gene.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Microarray-based mutation detection in the dystrophin gene.
@en
type
label
Microarray-based mutation detection in the dystrophin gene.
@en
prefLabel
Microarray-based mutation detection in the dystrophin gene.
@en
P2093
P2860
P356
P1433
P1476
Microarray-based mutation detection in the dystrophin gene.
@en
P2093
Ephrem L H Chin
Jennifer G Mulle
Madhuri R Hegde
Michael E Zwick
Stephen T Warren
P2860
P304
P356
10.1002/HUMU.20831
P50
P577
2008-09-01T00:00:00Z