DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.
about
Minor physical anomalies in autism: a meta-analysisLong noncoding RNAs in neuronal-glial fate specification and oligodendrocyte lineage maturationConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesGenotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceSept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in miceSearch for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorderAn inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorderA novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsMorphological features in children with autism spectrum disorders: a matched case-control study.Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8LNew insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbiditiesArray CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.Fluorescence in situ hybridization techniques in medical diagnostics.Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.A novel microdeletion/microduplication syndrome of 19p13.13.Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.Parents' reports predict abnormal investigations in global developmental delay.Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.
P2860
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P2860
DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
DNA microarray analysis identi ...... nexplained mental retardation.
@en
type
label
DNA microarray analysis identi ...... nexplained mental retardation.
@en
prefLabel
DNA microarray analysis identi ...... nexplained mental retardation.
@en
P2093
P1433
P1476
DNA microarray analysis identi ...... nexplained mental retardation.
@en
P2093
Brockschmidt A
Hoischen A
Landwehr C
Propping P
Walldorf C
P304
P356
10.1212/01.WNL.0000256367.70365.E0
P407
P577
2007-03-01T00:00:00Z