The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
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Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastomaGenome-wide copy number analysis uncovers a new HSCR gene: NRG3Deletion of a single-copy DAAM1 gene in congenital heart defect: a case reportOver-expression of DSCAM and COL6A2 cooperatively generates congenital heart defectsConcise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic diseaseDown syndrome: searching for the genetic culpritsDELLY: structural variant discovery by integrated paired-end and split-read analysisMicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint libraryDYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeThe importance of understanding individual differences in Down syndromeDissecting Alzheimer disease in Down syndrome using mouse modelsA genetic cause of Alzheimer disease: mechanistic insights from Down syndromeConcise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem CellsEnteric nervous system development: migration, differentiation, and diseaseCaenorhabditis elegans as a model organism to study APP functionMouse models of Down syndrome as a tool to unravel the causes of mental disabilitiesMyeloid leukemia in Down syndromeA collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.Aneuploidy: a common and early evidence-based biomarker for carcinogens and reproductive toxicantsTrisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomesGerminal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndromeAnalysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes ProjectSNP and gene networks construction and analysis from classification of copy number variations dataGenetics and Genomics of Congenital Heart Disease.Echocardiography in children with Down syndrome.Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouseCongenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity.A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in miceMolecular basis of pharmacotherapies for cognition in Down syndromeMeeting at the crossroads: common mechanisms in Fragile X and Down syndromeMassive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21.Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndromeMeta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processesCLOVE: classification of genomic fusions into structural variation eventsFunctional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networksMapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome
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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 13 July 2009
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vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The genetic architecture of Do ...... s of human segmental trisomies
@en
The genetic architecture of Do ...... of human segmental trisomies.
@nl
type
label
The genetic architecture of Do ...... s of human segmental trisomies
@en
The genetic architecture of Do ...... of human segmental trisomies.
@nl
prefLabel
The genetic architecture of Do ...... s of human segmental trisomies
@en
The genetic architecture of Do ...... of human segmental trisomies.
@nl
P2093
P2860
P50
P356
P1476
The genetic architecture of Do ...... s of human segmental trisomies
@en
P2093
Alexander Eckehart Urban
Alexander J Van Riper
Arthur S Aylsworth
Barbara C McGillivray
Chandra Erdman
Dorothy Warburton
Eric Doran
Fabian Grubert
Gillian M Barlow
Ira T Lott
P2860
P304
12031-12036
P356
10.1073/PNAS.0813248106
P407
P577
2009-07-13T00:00:00Z