Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
about
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Further characterization of microdeletion syndrome involving 2p15-p16.1Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeMolecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDetection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.Diagnostic genome profiling in mental retardation.Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Contribution of rare copy number variants to isolated human malformations.Genetics and pathophysiology of mental retardation.Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyNovel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methodsX linked mental retardation: a clinical guide.Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationDiagnostic genome profiling: unbiased whole genome or targeted analysis?Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental RetardationApproach to the diagnosis of developmental delay - the changing scenario.Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.Delineation of subtelomeric deletion of the long arm of chromosome 6.Making headway with genetic diagnostics of intellectual disabilities.Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.A clinical case report and literature review of the 3q29 microdeletion syndrome.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.Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia.Variation of CNV distribution in five different ethnic populations.Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
P2860
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P2860
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@ast
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@en
type
label
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@ast
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@en
prefLabel
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@ast
Screening for subtelomeric rea ...... nt probe amplification (MLPA).
@en
P2093
P2860
P356
P1476
Screening for subtelomeric rea ...... ent probe amplification (MLPA)
@en
P2093
Brunner HG
Nillesen WM
Sistermans EA
Versteeg MH
P2860
P304
P356
10.1136/JMG.2004.023671
P407
P577
2004-12-01T00:00:00Z