Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

http://www.wikidata.org/entity/Q34325983

about

Alzheimer's disease amyloid-beta links lens and brain pathology in 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 DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells Mouse models of Down syndrome as a tool to unravel the causes of mental disabilities Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition Aneuploidy: a common and early evidence-based biomarker for carcinogens and reproductive toxicants Down Syndrome: Current Status, Challenges and Future Perspectives Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity.Discovery of novel serum biomarkers for prenatal Down syndrome screening by integrative data mining.Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.Array CGH in human leukemia: from somatics to genetics.Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22).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 mice Molecular basis of pharmacotherapies for cognition in Down syndrome Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.Phenotypic consequences of aneuploidy in Arabidopsis thaliana.Global DNA hypermethylation in down syndrome placenta Down syndrome--recent progress and future prospects.Mechanisms of x chromosome dosage compensation.Identification of a DNA methylation signature in blood cells from persons with Down Syndrome.Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.Predictive performance of a seven-plex antibody array in prenatal screening for Down Syndrome.The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice.Genetic analysis of Down syndrome-associated heart defects in mice.Deletion of the App-Runx1 region in mice models human partial monosomy 21."Down syndrome: an insight of the disease"Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.Systematic Tracking of Disrupted Modules Identifies Altered Pathways Associated with Congenital Heart Defects in Down Syndrome.

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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

http://www.wikidata.org/entity/Q34325983

description

2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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type

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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European Journal of Human Genetics

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Genotype-phenotype correlation ...... partial monosomy chromosome 21

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P2093

Albert Schinzel

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Anna Pelet

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Armand Bottani

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Corinne Gehrig

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Emilie Aït Yahya-Graison

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Frédérique Béna

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Gipsy Lopez

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James Lespinasse

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Jean M Delabar

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Judy C Franklin

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P2860

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

BLAT--the BLAST-like alignment tool

The DNA sequence of human chromosome 21

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain

Large-scale copy number polymorphism in the human genome

Construction and characterization of a human bacterial artificial chromosome library

Chromosome 21 and down syndrome: from genomics to pathophysiology

"Compensatory" uniparental disomy of chromosome 21 in two cases

CGH-Explorer: a program for analysis of array-CGH data.

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

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454-466

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10.1038/EJHG.2008.214

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4

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17

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Stylianos Antonarakis

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Stanislas Lyonnet

Ingo Kennerknecht

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23466663

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