(Q39060506)

8 September 2017

Down syndrome and the complexity of genome dosage imbalance (English)

1 reference

8 September 2017

1 reference

Stylianos E Antonarakis

series ordinal

1

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8 September 2017

28 December 2016

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8 September 2017

Nature Reviews Genetics

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8 September 2017

18

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8 September 2017

3

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8 September 2017

147-163

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https://scigraph.springernature.com/pub.10.1038/nrg.2016.154

8 September 2017

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cites work

The DNA sequence of human chromosome 21

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

10 years of Genomics, chromosome 21, and Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Chromosome 21: from sequence to applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The challenge of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Chromosome 21 and down syndrome: from genomics to pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genomic determinants in the phenotypic variability of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Down syndrome and Alzheimer's disease: Common pathways, common goals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Down syndrome: the brain in trisomic mode.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Too much of a good thing: mechanisms of gene action in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

A year of unprecedented progress in Down syndrome basic research

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Using mouse models to explore genotype-phenotype relationship in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

An integrated encyclopedia of DNA elements in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

miR-99a/100~125b tricistrons regulate hematopoietic stem and progenitor cell homeostasis by shifting the balance between TGFβ and Wnt signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

MicroRNA regulation of Cbx7 mediates a switch of Polycomb orthologs during ESC differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Cytoskeletal pathologies of Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Transcriptome and genome sequencing uncovers functional variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Domains of genome-wide gene expression dysregulation in Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Human pluripotent stem cells: applications and challenges in neurological diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Integration-free induced pluripotent stem cells model genetic and neural developmental features of down syndrome etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Trisomy 21 consistently activates the interferon response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The population prevalence of Down's syndrome in England and Wales in 2011.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Sequence of deposition of heterogeneous amyloid beta-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Role of common and rare APP DNA sequence variants in Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Loss of cholinergic phenotype in basal forebrain coincides with cognitive decline in a mouse model of Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Alzheimer's disease and senile dementia: loss of neurons in the basal forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Alzheimer-like cholinergic deficiency in Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome: differential effects of APOE genotype and presenilin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Amyloid precursor protein-mediated endocytic pathway disruption induces axonal dysfunction and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Risks of leukaemia and solid tumours in individuals with Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Leukemia in Down syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Origins of leukaemia in children with Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The landscape of somatic mutations in Down syndrome-related myeloid disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

AKT collaborates with ERG and Gata1s to dysregulate megakaryopoiesis and promote AMKL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Gene duplication: a drive for phenotypic diversity and cause of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

DYRK1A: a potential drug target for multiple Down syndrome neuropathologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Haploinsufficiency predictions without study bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genetic analysis of Down syndrome-associated heart defects in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Disease-specific induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Modeling neurogenesis impairment in Down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Trisomy correction in Down syndrome induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Deficits in human trisomy 21 iPSCs and neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Translating dosage compensation to trisomy 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Mechanisms and functional implications of adult neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Timing of therapies for Down syndrome: the sooner, the better

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Reducing GABAA α5 receptor-mediated inhibition rescues functional and neuromorphological deficits in a mouse model of down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Fluoxetine rescues deficient neurogenesis in hippocampus of the Ts65Dn mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Early pharmacotherapy restores neurogenesis and cognitive performance in the Ts65Dn mouse model for Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Early pharmacotherapy with fluoxetine rescues dendritic pathology in the Ts65Dn mouse model of down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Pharmacotherapy with fluoxetine restores functional connectivity from the dentate gyrus to field CA3 in the Ts65Dn mouse model of down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Long-term effects of neonatal treatment with fluoxetine on cognitive performance in Ts65Dn mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Maternal choline supplementation improves spatial learning and adult hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Maternal choline supplementation improves spatial mapping and increases basal forebrain cholinergic neuron number and size in aged Ts65Dn mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Defects in embryonic neurogenesis and initial synapse formation in the forebrain of the Ts65Dn mouse model of Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Neurological phenotypes for Down syndrome across the life span

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Ts65Dn mice, a model for Down syndrome, have deficits in context discrimination learning suggesting impaired hippocampal function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Understanding mental retardation in Down's syndrome using trisomy 16 mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Memory enhancement induced by hypothalamic/fornix deep brain stimulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Bidirectional changes to hippocampal theta-gamma comodulation predict memory for recent spatial episodes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

An Anti-β-Amyloid Vaccine for Treating Cognitive Deficits in a Mouse Model of Down Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Cerebral organoids model human brain development and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Genetic mapping in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

GENCODE: the reference human genome annotation for The ENCODE Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Mapping and analysis of chromatin state dynamics in nine human cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

An expansive human regulatory lexicon encoded in transcription factor footprints

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Repbase Update, a database of eukaryotic repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Up and down in Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Human chromosome 21 dosage: effect on the expression of the interferon induced antiviral state

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Presence of soluble amyloid beta-peptide precedes amyloid plaque formation in Down's syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Gain of chromosome 21 or amplification of chromosome arm 21q is one mechanism for increased ERG expression in acute myeloid leukemia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.154

Chronic Treatment with a Promnesiant GABA-A α5-Selective Inverse Agonist Increases Immediate Early Genes Expression during Memory Processing in Mice and Rectifies Their Expression Levels in a Down Syndrome Mouse Model

31 March 2020

1 reference

12 December 2020

Down syndrome and leukemia: insights into leukemogenesis and translational targets

1 reference

12 December 2020

Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model

1 reference

12 December 2020

A human stem cell model of early Alzheimer's disease pathology in Down syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG.2016.154

1 reference

8 September 2017

1 reference

PubMed ID

28029161