Down syndrome phenotypes: the consequences of chromosomal imbalance. - Wikidata - wikimedia - TriplyDB

Down syndrome phenotypes: the consequences of chromosomal imbalance.

Down syndrome phenotypes: the consequences of chromosomal imbalance.

http://www.wikidata.org/entity/Q35344729

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Alzheimer's disease amyloid-beta links lens and brain pathology in Down syndrome Gene-dosage effects in Down syndrome and trisomic mouse models The sequence of human chromosome 21 and implications for research into Down syndrome Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease Down syndrome: searching for the genetic culprits The cholesterol transporter ABCG1 modulates the subcellular distribution and proteolytic processing of beta-amyloid precursor protein Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins Physical 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 syndrome Overexpression of the human MNB/DYRK1A gene induces formation of multinucleate cells through overduplication of the centrosome Engineering mouse chromosomes with Cre-loxP: range, efficiency, and somatic applications Transcription factor BACH1 is recruited to the nucleus by its novel alternative spliced isoform Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21 Germinal 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 modulation Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis Comprehensive 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 mouse Genetic 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 trisomy Gene expression analysis of cultured amniotic fluid cell with Down syndrome by DNA microarray A 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 mice Molecular basis of pharmacotherapies for cognition in Down syndrome A 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 inactivation Down 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 syndromes An 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.

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

http://www.wikidata.org/entity/Q35344729

description

1994 nî lūn-bûn

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1994 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1994 թվականի մայիսին հրատարակված գիտական հոդված

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1994年の論文

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1994年学术文章

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1994年学术文章

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1994年学术文章

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1994年学术文章

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1994年学术文章

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1994年學術文章

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name

Down syndrome phenotypes: the consequences of chromosomal imbalance.

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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type

label

Down syndrome phenotypes: the consequences of chromosomal imbalance.

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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prefLabel

Down syndrome phenotypes: the consequences of chromosomal imbalance.

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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PNAS.91.11.4997

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Proceedings of the National Academy of Sciences of the United States of America

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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C Daumer

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C Disteche

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J R Korenberg

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N Carpenter

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P Dignan

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R Gonsky

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R Schipper

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S Gerwehr

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X N Chen

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Z Sun

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P2860

Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis.

[Study of somatic chromosomes from 9 mongoloid children.]

Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21

Growth and development of the brain in Down syndrome.

Free proximal trisomy 21 without the Down syndrome.

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