Down syndrome phenotypes: the consequences of chromosomal imbalance.
about
Alzheimer's disease amyloid-beta links lens and brain pathology in Down syndromeGene-dosage effects in Down syndrome and trisomic mouse modelsThe sequence of human chromosome 21 and implications for research into Down syndromeConcise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic diseaseDown syndrome: searching for the genetic culpritsThe cholesterol transporter ABCG1 modulates the subcellular distribution and proteolytic processing of beta-amyloid precursor proteinCloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal regionEditing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminasesTrisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteinsPhysical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndromeOverexpression of the human MNB/DYRK1A gene induces formation of multinucleate cells through overduplication of the centrosomeEngineering mouse chromosomes with Cre-loxP: range, efficiency, and somatic applicationsTranscription factor BACH1 is recruited to the nucleus by its novel alternative spliced isoformWilliams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Homocysteine metabolism in children with Down syndrome: in vitro modulationDosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndromeA Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensisComprehensive behavioral phenotyping of Ts65Dn mouse model of Down syndrome: activation of β1-adrenergic receptor by xamoterol as a potential cognitive enhancer.Live imaging of neuronal connections by magnetic resonance: Robust transport in the hippocampal-septal memory circuit in a mouse model of Down syndrome.Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouseGenetic dissection of the Down syndrome critical region.A contiguous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high- throughput nonisotopic library screenings.Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.A gene expression map of human chromosome 21 orthologues in the mouse.Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry.Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomyGene expression analysis of cultured amniotic fluid cell with Down syndrome by DNA microarrayA chromosome 21 critical region does not cause specific Down syndrome phenotypes.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 syndromeA brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection.Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivationDown syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.A case of apparent trisomy 21 without the Down's syndrome phenotype.Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromesAn aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.Phosphorylation by Dyrk1A of clathrin coated vesicle-associated proteins: identification of the substrate proteins and the effects of phosphorylation.
P2860
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P2860
Down syndrome phenotypes: the consequences of chromosomal imbalance.
description
1994 nî lūn-bûn
@nan
1994 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
name
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@ast
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@en
type
label
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@ast
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@en
prefLabel
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@ast
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@en
P2093
P2860
P356
P1476
Down syndrome phenotypes: the consequences of chromosomal imbalance.
@en
P2093
C Disteche
J R Korenberg
N Carpenter
R Schipper
P2860
P304
P356
10.1073/PNAS.91.11.4997
P407
P577
1994-05-01T00:00:00Z