Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defectsBayesian disease classification using copy number data.Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHGenomic medicine and neurological disease.Genomic copy number variation in disorders of cognitive development.Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarraysApplication of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flowA novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresThe genetics of microdeletion and microduplication syndromes: an update.Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development.Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.1q21.1 Microduplication expression in adults.Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience."Idiopathic" mental retardation and new chromosomal abnormalities.Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Detection and interpretation of genomic structural variation in health and disease.Pathogenic or not? Assessing the clinical relevance of copy number variants.Exome sequencing and whole genome sequencing for the detection of copy number variation.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.Genetic Advances in Intellectual Disability.What is complex about complex disorders?Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Genomic microarrays in mental ...... e, from research to diagnosis.
@en
Genomic microarrays in mental ...... e, from research to diagnosis.
@nl
type
label
Genomic microarrays in mental ...... e, from research to diagnosis.
@en
Genomic microarrays in mental ...... e, from research to diagnosis.
@nl
prefLabel
Genomic microarrays in mental ...... e, from research to diagnosis.
@en
Genomic microarrays in mental ...... e, from research to diagnosis.
@nl
P356
P1476
Genomic microarrays in mental ...... e, from research to diagnosis.
@en
P2093
Bert B A de Vries
P304
P356
10.1136/JMG.2009.072942
P407
P577
2009-11-30T00:00:00Z