Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
about
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesLarge recurrent microdeletions associated with schizophreniaDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersClinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases22q13.3 deletion syndrome: clinical and molecular analysis using array CGHStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesIncreased LIS1 expression affects human and mouse brain developmentIdentification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesIdentification of de novo copy number variants associated with human disorders of sexual development.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortClinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9pChromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsInterstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHMutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.Disorders caused by chromosome abnormalities.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridizationA familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.Exceptional complex chromosomal rearrangements in three generationsSomatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesDetection of clinically relevant exonic copy-number changes by array CGH.Double inv(3)(q21q26.2) in acute myeloid leukemia is resulted from an acquired copy neutral loss of heterozygosity of chromosome 3q and associated with disease progression.Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
P2860
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P2860
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
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
@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
name
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@ast
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@en
type
label
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@ast
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@en
prefLabel
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@ast
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@en
P2093
P2860
P1433
P1476
Clinical implementation of chr ...... mmary of 2513 postnatal cases.
@en
P2093
A Craig Chinault
Ankita Patel
Arthur L Beaudet
Carlos A Bacino
Cathy M Sullivan
James R Lupski
Jiangzhen Li
M Lance Cooper
Patricia A Ward
Pawel Stankiewicz
P2860
P356
10.1371/JOURNAL.PONE.0000327
P407
P50
P577
2007-03-28T00:00:00Z