A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
about
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosisThe importance of genetic diagnosis for Duchenne muscular dystrophyDuchenne Muscular Dystrophy: From Diagnosis to TherapyIdentification 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 myopathiesTranslation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.Detection limit of intragenic deletions with targeted array comparative genomic hybridization.Disorders caused by chromosome abnormalities.Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Detection 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.Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.A 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.Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.Deep intronic mutations and human disease.Normal and altered pre-mRNA processing in the DMD gene.De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.
P2860
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P2860
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
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
name
A novel custom high density-co ...... tations in dystrophinopathies.
@ast
A novel custom high density-co ...... tations in dystrophinopathies.
@en
type
label
A novel custom high density-co ...... tations in dystrophinopathies.
@ast
A novel custom high density-co ...... tations in dystrophinopathies.
@en
prefLabel
A novel custom high density-co ...... tations in dystrophinopathies.
@ast
A novel custom high density-co ...... tations in dystrophinopathies.
@en
P2093
P2860
P50
P356
P1433
P1476
A novel custom high density-co ...... tations in dystrophinopathies.
@en
P2093
Alessandra Ferlini
Anna Venturoli
Cecilia Trabanelli
Elena Bassi
Elena Martoni
Emma Ashton
Francesca Gualandi
Francesco Muntoni
Joanne McCauley
Marcella Neri
P2860
P2888
P356
10.1186/1471-2164-9-572
P407
P577
2008-11-28T00:00:00Z
P5875
P6179
1026460652