Chromosome 21 and Down syndrome: from genomics to pathophysiology

Initial sequencing and analysis of the human genome

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The sequence of the human genome

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Initial sequencing and comparative analysis of the mouse genome

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To err (meiotically) is human: the genesis of human aneuploidy

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A high-resolution recombination map of the human genome

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The DNA sequence of human chromosome 21

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Recent Segmental Duplications in the Human Genome

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Down's syndrome

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

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Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

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Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs

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Assembly of microarrays for genome-wide measurement of DNA copy number

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A mouse model for Down syndrome exhibits learning and behaviour deficits

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Large-Scale Transcriptional Activity in Chromosomes 21 and 22

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Chromosome aberrations in solid tumors

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Down syndrome phenotypes: the consequences of chromosomal imbalance.

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The choice of cell fate in the epidermis of Drosophila

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Functional Identification of the Mouse Circadian Clock Gene by Transgenic BAC Rescue

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The gradient morphogen bicoid is a concentration-dependent transcriptional activator

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Comparative analyses of multi-species sequences from targeted genomic regions

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Kinetics of homophilic binding by embryonic and adult forms of the neural cell adhesion molecule.

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A tiling resolution DNA microarray with complete coverage of the human genome

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The Dog Genome: Survey Sequencing and Comparative Analysis

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Novel RNAs Identified From an In-Depth Analysis of the Transcriptome of Human Chromosomes 21 and 22Preprint

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The neuropsychology of down syndrome: evidence for hippocampal dysfunction.

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Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

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Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

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Alternate stoichiometries of α4β2 nicotinic acetylcholine receptors

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Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

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

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A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome

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Failed retrograde transport of NGF in a mouse model of Down's syndrome: Reversal of cholinergic neurodegenerative phenotypes following NGF infusion

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M OLECULAR M ECHANISMS FOR G ENOMIC D ISORDERS

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The Consequences of Chromosome Imbalance

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Normal stoichiometry of histone dimer sets is necessary for high fidelity of mitotic chromosome transmission

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Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

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Discovery and genetic localization of down syndrome cerebellar phenotypes using the Ts65Dn mouse

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Parallels of craniofacial maldevelopment in down syndrome and Ts65Dn mice

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Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

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Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice.

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Numerous potentially functional but non-genic conserved sequences on human chromosome 21

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Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

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DNA sequence and comparative analysis of chimpanzee chromosome 22

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Genetic Disorders and the Fetus

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Human chromosome 21 gene expression atlas in the mouse

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Four Pharmacologically Distinct Subtypes of α4β2 Nicotinic Acetylcholine Receptor Expressed in Xenopus laevisOocytes

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Measurement of locus copy number by hybridisation with amplifiable probes

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

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Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

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Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions

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Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down SyndromePreprint

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Transcriptome analysis of human autosomal trisomy

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

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Molecular Fossils in the Human Genome: Identification and Analysis of the Pseudogenes in Chromosomes 21 and 22Preprint

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Human ABCA1 BAC Transgenic Mice Show Increased High Density Lipoprotein Cholesterol and ApoAI-dependent Efflux Stimulated by an Internal Promoter Containing Liver X Receptor Response Elements in Intron 1

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Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)

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Gene Expression Analyzed by High-resolution State Array Analysis and Quantitative Proteomics

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A Comprehensive Analysis of Allelic Methylation Status of CpG Islands on Human Chromosome 21qPreprint

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down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes.

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Genetic Dissection of Region Associated with Behavioral Abnormalities in Mouse Models for Down Syndrome

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Motor dysfunction in a mouse model for Down syndrome

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Impaired short- and long-term memory in Ts65Dn mice, a model for Down syndrome

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Transformation of axial skeleton due to overexpression of bmi-1 in transgenic mice

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10 Years ofGenomics,Chromosome 21, and Down Syndrome

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Parental Origin and Timing of De Novo Robertsonian Translocation Formation

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Global disruption of the cerebellar transcriptome in a Down syndrome mouse model

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Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)

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Human Ribosomal RNA Genes: Orientation of the Tandem Array and Conservation of the 5′ End

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A gene expression map of human chromosome 21 orthologues in the mouse

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

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Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease

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Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24

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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 NormalsPreprint

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Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

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Noncoding Sequences Conserved in a Limited Number of Mammals in the SIM2 Interval are Frequently FunctionalPreprint

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Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic EnvironmentPreprint

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The sequence of human chromosome 21 and implications for research into Down syndrome.

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Murine models for Down syndrome

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Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.

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Trafficking the NGF signal: implications for normal and degenerating neurons

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Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21Preprint

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Nineteen Additional Unpredicted Transcripts from Human Chromosome 21

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Use of Comparative Physical and Sequence Mapping to Annotate Mouse Chromosome 16 and Human Chromosome 21

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Partial IFN- alpha/beta and IFN- gamma Receptor Knockout Trisomy 16 Mouse Fetuses Show Improved Growth and Cultured Neuron Viability

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