Molecular genetic analysis of Down syndrome (Q22252694)

https://api.crossref.org/works/10.1007%2FS00439-009-0696-8

Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0696-8

ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0696-8

Uric acid and allantoin levels in Down syndrome: antioxidant and oxidative stress mechanisms?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0696-8

Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice.

21 January 2018

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12 December 2020

Beta-amyloid, oxidative stress and down syndrome

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12 December 2020

Folate metabolism and the risk of Down syndrome

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12 December 2020

The Nrf2-ARE pathway: an indicator and modulator of oxidative stress in neurodegeneration

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12 December 2020

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

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12 December 2020

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221

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12 December 2020

Segmental copy number variation shapes tissue transcriptomes

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12 December 2020

RNA-Seq: a revolutionary tool for transcriptomics

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12 December 2020

Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations

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12 December 2020

ABCG1--a potential therapeutic target for atherosclerosis

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12 December 2020

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency

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12 December 2020

Ts65Dn mouse, a Down syndrome model, exhibits elevated myo-inositol in selected brain regions and peripheral tissues

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12 December 2020

App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome

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12 December 2020

TMPRSS2:ERG fusion by translocation or interstitial deletion is highly relevant in androgen-dependent prostate cancer, but is bypassed in late-stage androgen receptor-negative prostate cancer.

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12 December 2020

Species-specific transcription in mice carrying human chromosome 21

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12 December 2020

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

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12 December 2020

Development of a Mouse Model for the Study of Human Purine Metabolism

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12 December 2020

DNA methylomes, histone codes and miRNAs: tying it all together

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12 December 2020

Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome

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12 December 2020

Adenylosuccinate lyase deficiency

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12 December 2020

Trisomy 16 in the mouse fetus associated with generalized edema and cardiovascular and urinary tract anomalies.

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12 December 2020

Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome.

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12 December 2020

CpG island mapping by epigenome prediction

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12 December 2020

Down syndrome—a disruption of homeostasis

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12 December 2020

Molecular responses of the Ts65Dn and Ts1Cje mouse models of Down syndrome to MK-801.

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12 December 2020

TMPRSS2-ERG and PTEN loss in prostate cancer

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12 December 2020

Identification of dysregulated genes in lymphocytes from children with Down syndrome.

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12 December 2020

MicroRNA-29b induces global DNA hypomethylation and tumor suppressor gene reexpression in acute myeloid leukemia by targeting directly DNMT3A and 3B and indirectly DNMT1.

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12 December 2020

ets-2 promotes the activation of a mitochondrial death pathway in Down's syndrome neurons.

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12 December 2020

Down syndrome and genetics - a case of linked histories.

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12 December 2020

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

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12 December 2020

The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome

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12 December 2020

Assessment of post-mortem-induced changes to the mouse brain proteome

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12 December 2020

Hyperuricemia in Down's syndrome

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12 December 2020

Sex-specific promoters regulate Dnmt3L expression in mouse germ cells

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12 December 2020

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

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12 December 2020

Vascular endothelial growth factor- and thrombin-induced termination factor, Down syndrome critical region-1, attenuates endothelial cell proliferation and angiogenesis

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12 December 2020

Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome.

1 reference

12 December 2020

Analysis of protein patterns in two-dimensional gels of cultured human cells with trisomy 21

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12 December 2020

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12 December 2020

Genetic mechanisms involved in the phenotype of Down syndrome

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12 December 2020

Metabolism of N15 labeled uric acid in Down's syndrome

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12 December 2020

Protein methyltransferase 2 inhibits NF-kappaB function and promotes apoptosis

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12 December 2020

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12 December 2020

Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test.

1 reference

12 December 2020

Combined IFN-gamma-endostatin gene therapy and radiotherapy attenuates primary breast tumor growth and lung metastases via enhanced CTL and NK cell activation and attenuated tumor angiogenesis in a murine model.

1 reference

12 December 2020

PRMT2, a member of the protein arginine methyltransferase family, is a coactivator of the androgen receptor

1 reference

12 December 2020

Metabolomics: a global biochemical approach to the study of central nervous system diseases

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12 December 2020

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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12 December 2020

H(2)O(2)-mediated modulation of cytosolic signaling and organelle function in rat hippocampus.

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12 December 2020

Cooperation to amplify gene-dosage-imbalance effects

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12 December 2020

Relative impact of nucleotide and copy number variation on gene expression phenotypes

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12 December 2020

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

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12 December 2020

Differential MRI patterns of brain atrophy in double or single transgenic mice for APP and/or SOD.

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12 December 2020

Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways

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12 December 2020

DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA

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12 December 2020

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

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12 December 2020

Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome

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12 December 2020

Pattern of malignant disorders in individuals with Down's syndrome.

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12 December 2020

HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1

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12 December 2020

In vivo brain myo-inositol levels in children with Down syndrome

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12 December 2020

Alzheimer's disease and endocytic dysfunction: clues from the Down syndrome-related proteins, DSCR1 and ITSN1

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12 December 2020

Complementary and alternative therapies for Down syndrome

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12 December 2020

Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities

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12 December 2020

The arginine methyltransferase PRMT2 binds RB and regulates E2F function

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12 December 2020

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

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12 December 2020

The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

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12 December 2020

Reversible compartmentalization of de novo purine biosynthetic complexes in living cells

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12 December 2020

Mapping of a new target region of allelic loss to a 6-cM interval at 21q21 in primary breast cancers

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12 December 2020

Reactive oxygen intermediates during programmed cell death induced in the thymus of the Ts(1716)65Dn mouse, a murine model for human Down's syndrome

1 reference

12 December 2020

Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes

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12 December 2020

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

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12 December 2020

Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cells.

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12 December 2020

A humanized mouse model for the reduced folate carrier

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12 December 2020

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

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12 December 2020

The candidate tumor suppressor BTG3 is a transcriptional target of p53 that inhibits E2F1

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12 December 2020

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

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12 December 2020

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12 December 2020

GATA1-related leukaemias

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12 December 2020

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

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12 December 2020

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

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12 December 2020

The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome

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12 December 2020

Identification of protein arginine methyltransferase 2 as a coactivator for estrogen receptor alpha

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12 December 2020

Targeted deletion of the calcineurin inhibitor DSCR1 suppresses tumor growth

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12 December 2020

Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain

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12 December 2020

APRO4 negatively regulates Src tyrosine kinase activity in PC12 cells

1 reference

12 December 2020

Distinction between extra G-like chromosomes by quinacrine mustard fluorescence analysis

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12 December 2020

Segmental trisomy of murine chromosome 16: a new model system for studying Down syndrome

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12 December 2020

A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.

1 reference

12 December 2020

Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

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12 December 2020

Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease.

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12 December 2020

Molecular insights into Down syndrome-associated leukemia

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12 December 2020

Inhibition of breast cancer growth and invasion by single-minded 2s.

1 reference

12 December 2020

Difference gel electrophoresis: a single gel method for detecting changes in protein extracts

1 reference

12 December 2020

Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of [...]

1 reference

12 December 2020

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

1 reference

12 December 2020

Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts

1 reference

12 December 2020

Down syndrome congenital heart disease: a narrowed region and a candidate gene

1 reference

12 December 2020

Intrinsic variability of gene expression encoded in nucleosome positioning sequences.

1 reference

12 December 2020

Shorter telomeres may indicate dementia status in older individuals with Down syndrome.

1 reference

12 December 2020

Cholinergic degeneration and memory loss delayed by vitamin E in a Down syndrome mouse model.

1 reference

12 December 2020

Hematopoietic defects in the Ts1Cje mouse model of Down syndrome

1 reference

12 December 2020

The DNA sequence of human chromosome 21

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12 December 2020

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

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12 December 2020

The DNA-encoded nucleosome organization of a eukaryotic genome

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12 December 2020

Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.

1 reference

12 December 2020

Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis

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12 December 2020

Gene expression variation in Down's syndrome mice allows prioritization of candidate genes

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12 December 2020

Hippocampal myo-inositol and cognitive ability in adults with Down syndrome: an in vivo proton magnetic resonance spectroscopy study

1 reference

12 December 2020

Undetectable levels of N6-methyl adenine in mouse DNA: Cloning and analysis of PRED28, a gene coding for a putative mammalian DNA adenine methyltransferase

1 reference

12 December 2020

Hyperuricemia and urate nephropathy in urate oxidase-deficient mice

1 reference

12 December 2020

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

1 reference

12 December 2020

Human induced pluripotent stem cells free of vector and transgene sequences

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12 December 2020

A tumor profile in Down syndrome

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12 December 2020

Systematic review of the effect of therapeutic dietary supplements and drugs on cognitive function in subjects with Down syndrome

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12 December 2020

Epigenetic mechanisms for nutrition determinants of later health outcomes

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12 December 2020

Gene expression variation increase in trisomy 21 tissues.

1 reference

12 December 2020

Autosomal aneuploidy in mice: generation and developmental consequences

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12 December 2020

Mining knowledge for the methylation status of CpG islands using alternating decision trees

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12 December 2020

A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q

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12 December 2020

Trisomy represses Apc Min -mediated tumours in mouse models of Down’s syndrome

1 reference

12 December 2020

Gene-environment interactions reveal a homeostatic role for cholesterol metabolism during dietary folate perturbation in mice

1 reference

12 December 2020

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

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12 December 2020

Meiotic and epigenetic aberrations in Dnmt3L-deficient male germ cells

1 reference

12 December 2020

Regulation of DNA methylation activity through Dnmt3L promoter methylation by Dnmt3 enzymes in embryonic development.

1 reference

12 December 2020

Improved national prevalence estimates for 18 selected major birth defects--United States, 1999-2001

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12 December 2020

A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome

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12 December 2020

Specific transcriptional changes in human fetuses with autosomal trisomies

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12 December 2020

Abnormal DNA methyltransferase expression in mouse germline stem cells results in spermatogenic defects

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12 December 2020

Human phenotypes associated with GATA-1 mutations

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12 December 2020

Protein variations associated with Down's syndrome, chromosome 21, and Alzheimer's disease.

1 reference

12 December 2020

Copy number variants, diseases and gene expression

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12 December 2020

Somatic Cell Genetic Approaches to Down's Syndrome

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12 December 2020

Molecular mapping of Alzheimer-type dementia in Down's syndrome

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12 December 2020

BTG3 tumor suppressor gene promoter demethylation, histone modification and cell cycle arrest by genistein in renal cancer

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12 December 2020

Alzheimer disease and Down syndrome: factors in pathogenesis

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12 December 2020

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

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12 December 2020

Gene expression profiling in the adult Down syndrome brain.

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12 December 2020

Chromosome 21 of man, 22 of the great apes and 16 of the mouse

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12 December 2020

The Human GARS-AIRS-GART Gene Encodes Two Proteins Which Are Differentially Expressed during Human Brain Development and Temporally Overexpressed in Cerebellum of Individuals with Down Dyndrome

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12 December 2020

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study

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12 December 2020

The effect of trisomy 21 on the patterns of polypeptide synthesis in human fibroblasts

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12 December 2020

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

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12 December 2020

Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

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12 December 2020

Combined endostatin and TRAIL gene transfer suppresses human hepatocellular carcinoma growth and angiogenesis in nude mice

1 reference

12 December 2020

Differences in Protein Profiles in Schizophrenia Prefrontal Cortex Compared to Other Major Brain Disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0696-8

7 January 2021