Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q37218218

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Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.Rapid direct sequence analysis of the dystrophin gene Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Copy number variation analysis by ligation-dependent PCR based on magnetic nanoparticles and chemiluminescence.Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)Genomic imbalances in mental retardation.Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Strategies for the detection of copy number and other structural variants in the human genome.A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives.Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.MLPA and MAPH: sensitive detection of deletions and duplications.Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Eteplirsen in the treatment of Duchenne muscular dystrophy Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.High-resolution analysis of 16q22.1 in breast carcinoma using DNA amplifiable probes (multiplex amplifiable probe hybridization technique) and immunohistochemistry.Critical points for an accurate human genome analysis.A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin.Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene.Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.Deletion and duplication screening in the DMD gene using MLPA.Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

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

http://www.wikidata.org/entity/Q37218218

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 08 July 2002

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Comprehensive detection of gen ...... plifiable probe hybridization.

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Comprehensive detection of gen ...... plifiable probe hybridization.

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type

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Comprehensive detection of gen ...... plifiable probe hybridization.

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Comprehensive detection of gen ...... plifiable probe hybridization.

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Comprehensive detection of gen ...... plifiable probe hybridization.

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Comprehensive detection of gen ...... plifiable probe hybridization.

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American Journal of Human Genetics

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Comprehensive detection of gen ...... plifiable probe hybridization.

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Bert Bakker

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Dieuwke Engelsma

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Ellen Vollebregt

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Johan T den Dunnen

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Margot Kalf

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Marjolein Kriek

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Martijn H Breuning

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Michel Villerius

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Qiang Liu

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Stefan White

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P2860

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

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

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

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

Dystrophin is transcribed in brain from a distant upstream promoter.

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Measurement of locus copy number by hybridisation with amplifiable probes

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.

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365-374

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scholarly article

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10.1086/341942

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2

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71

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Gert-Jan van Ommen

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2002-07-08T00:00:00Z

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11266268

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379168

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