MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q - Wikidata - awgldk - TriplyDB

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

http://www.wikidata.org/entity/Q33622853

about

Detailed analysis of 22q11.2 with a high density MLPA probe set Small supernumerary marker chromosomes and their correlation with specific syndromes Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases A novel approach to simultaneously scan genes at fragile sites A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder Cat eye syndrome.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience.A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.Genotype-phenotype correlation in 22q11.2 deletion syndrome.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR Molecular identification of Clonorchis sinensis and discrimination with other opisthorchid liver fluke species using multiple Ligation-depended Probe Amplification (MLPA).ESR1 amplification in breast cancer by optimized RNase FISH: frequent but low-level and heterogeneous.Evaluation of two molecular techniques for rapid detection of the main dermatophytic agents of tinea capitis.MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.Derivative 11;22 (emanuel) syndrome: a case report and a review.22q11.2 deletion syndrome Morbidity in children and adolescents after surgical correction of truncus arteriosus communis.Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.Morbidity in children and adolescents after surgical correction of interrupted aortic arch.The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome.Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA).White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline.Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology

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MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

http://www.wikidata.org/entity/Q33622853

description

2006 nî lūn-bûn

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2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2006 թվականի օգոստոսին հրատարակված գիտական հոդված

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2006年の論文

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2006年學術文章

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name

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MLPA: a rapid, reliable, and s ...... alysis of abnormalities of 22q

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MLPA: a rapid, reliable, and s ...... alysis of abnormalities of 22q

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MLPA: a rapid, reliable, and s ...... alysis of abnormalities of 22q

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A M Hacker

http://www.w3.org/2001/XMLSchema#string

B S Emanuel

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C Scott

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E F Rappaport

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G R Jalali

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J A S Vorstman

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P2860

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

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

A common molecular basis for rearrangement disorders on chromosome 22q11

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Large-scale copy number polymorphism in the human genome

Prevalence of 22q11 microdeletion.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

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814-821

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10.1002/HUMU.20330

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8

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27

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2814414

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