Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome

Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome

(2009) M. Galante et al.   HUMAN MOLECULAR GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

(2008) Claudia Canzonetta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeting Dyrk1A with AAVshRNA Attenuates Motor Alterations in TgDyrk1A, a Mouse Model of Down Syndrome

(2008) Jon Ortiz-Abalia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reduced cell number in the neocortical part of the human fetal brain in Down syndrome

(2008) Karen Bonde Larsen et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

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

(2008) Donald E. Kuhn et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Cell Cycle Elongation Impairs Proliferation of Cerebellar Granule Cell Precursors in the Ts65Dn Mouse, an Animal Model for Down Syndrome

(2008) Andrea Contestabile et al.   BRAIN PATHOLOGY

Down syndrome and the genes of human chromosome 21: current knowledge and future potentials

(2008) M. Pritchard et al.   CYTOGENETIC AND GENOME RESEARCH

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

(2008) Robert Lyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome

(2008) Fei Liu et al.   FASEB JOURNAL

Copy number variation and evolution in humans and chimpanzees

(2008) G. H. Perry et al.   GENOME RESEARCH

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

(2008) I. Cusco et al.   GENOME RESEARCH

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

(2008) Arthur S. Lee et al.   HUMAN MOLECULAR GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome

(2008) E. Morice et al.   LEARNING & MEMORY

An integrative view of dynamic genomic elements influencing human brain evolution and individual neurodevelopment

(2008) G.S. Gericke   MEDICAL HYPOTHESES

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Distribution and functional impact of DNA copy number variation in the rat

(2008) Victor Guryev et al.   NATURE GENETICS

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

(2008) N. Rueda et al.   NEUROSCIENCE LETTERS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy Number Variant Analysis of Human Embryonic Stem Cells

(2008) Hao Wu et al.   STEM CELLS

New Insights into Human Nondisjunction of Chromosome 21 in Oocytes

(2008) Tiffany Renee Oliver et al.   PLoS Genetics

Effects of chronic administration of SGS-111 during adulthood and during the pre- and post-natal periods on the cognitive deficits of Ts65Dn mice, a model of Down syndrome

(2007) N RUEDA   BEHAVIOURAL BRAIN RESEARCH

MRS quality assessment in a multicentre study on MRS-based classification of brain tumours

(2007) Marinette van der Graaf et al.   NMR IN BIOMEDICINE