Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Item
http://www.wikidata.org/entity/Q33276927
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification.Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.MLPA for confirmation of array CGH results and determination of inheritance.Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic HybridizationDetection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.Molecular diagnosis utility of multiplex ligation-dependent probe amplification.Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.
P2860

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Item
http://www.wikidata.org/entity/Q33276927
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
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2007年論文
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2007年論文
@zh-hk
2007年論文
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2007年論文
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2007年论文
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name
Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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Detection of subtelomere imbal ...... cation in a diagnostic centre.
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P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P698
P921
P932