about
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general populationIdentifying signatures of natural selection in Tibetan and Andean populations using dense genome scan dataTowards a comprehensive structural variation map of an individual human genomeDPY19L2 deletion as a major cause of globozoospermiaMouse genetic and phenotypic resources for human geneticsCopy number variation at 1q21.1 associated with neuroblastomaUltraconserved elements: analyses of dosage sensitivity, motifs and boundariesDisruption of the neurexin 1 gene is associated with schizophreniaRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesStructural variation of chromosomes in autism spectrum disorderHigh density LD-based structural variations analysis in cattle genomeTFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individualsGenome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanicsComprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsToward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotypingMassive screening of copy number population-scale variation in Bos taurus genomeExploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data.Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probesCopy number variations (CNVs) identified in Korean individuals.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.Copy number variation in African Americans.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewMolecular cytogenetics and cytogenomics of brain diseases.An optimization framework for unsupervised identification of rare copy number variation from SNP array data.Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection.Accurate distinction of pathogenic from benign CNVs in mental retardation.Mutations in proteasome-related genes are associated with thyroid hemiagenesisCNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.An initial map of chromosomal segmental copy number variations in the chickenBiological relevance of CNV calling methods using familial relatedness including monozygotic twins.Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populationsIdentifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach.CNV-WebStore: online CNV analysis, storage and interpretation.Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array.
P2860
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P2860
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
Copy-number variation in control population cohorts.
@en
type
label
Copy-number variation in control population cohorts.
@en
prefLabel
Copy-number variation in control population cohorts.
@en
P356
P1476
Copy-number variation in control population cohorts.
@en
P2093
Christian Marshall
P304
P356
10.1093/HMG/DDM241
P478
16 Spec No. 2
P577
2007-10-01T00:00:00Z