10 years of Genomics, chromosome 21, and Down syndrome.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Genomics

• Publication date

  1998-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1006/GENO.1998.5335PMID 9693027
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients.

  1998cited by this paper
• Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

  1998cited by this paper
• Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2

  1997cited by this paper
• Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region.

  1997cited by this paper
• Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome

  1997cited by this paper
• Gene expression profiles in normal and cancer cells.

  1997cited by this paper
• Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.

  1997cited by this paper
• Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2.

  1997cited by this paper
• Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

  1997cited by this paper
• Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.

  1997cited by this paper
• Gene identification and DNA sequence analysis in the GC-poor 20 megabase region of human chromosome 21.

  1997cited by this paper
• A Type I Interferon Signaling Factor, ISF21, Encoded on Chromosome 21 Is Distinct from Receptor Components and Their Down-regulation and Is Necessary for Transcriptional Activation of Interferon-regulated Genes*

  1997cited by this paper
• What is expanded in progressive myoclonus epilepsy?

  1997cited by this paper
• Characterization of the yeast transcriptome.

  1997cited by this paper
• A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

  1997cited by this paper
• An STS-based radiation hybrid map of the human genome.

  1997cited by this paper
• Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice.

  1997cited by this paper
• Functional screening and complex traits: human 21q22.2 sequences affecting learning in mice.

  1997cited by this paper
• IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.

  1997cited by this paper
• A Meta-Analysis of Plasma Homocysteine as a Risk Factor for Arteriosclerotic Vascular Disease and the Potential Preventive Role of Folic Acid

  1997cited by this paper
• BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.

  1997cited by this paper
• Two-locus admixture linkage analysis of bipolar and unipolar affective disorder supports the presence of susceptibility loci on chromosomes 11p15 and 21q22.

  1997cited by this paper
• Genome-wide expression monitoring in Saccharomyces cerevisiae

  1997cited by this paper
• An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

  1997cited by this paper
• Positional cloning of the APECED gene

  1997cited by this paper
• de la Chapelle, A.

  1997cited by this paper
• A Gene Map of the Human Genome

  1996cited by this paper
• Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

  1996cited by this paper
• Expression monitoring by hybridization to high-density oligonucleotide arrays

  1996cited by this paper
• Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

  1996cited by this paper
• Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study.

  1996cited by this paper
• Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region".

  1996cited by this paper
• Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

  1996cited by this paper
• Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

  1996cited by this paper
• A long-range physical map of human Chromosome 21q22.1 band from the YAC continuum

  1996cited by this paper
• Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21.

  1996cited by this paper
• Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome.

  1996cited by this paper
• An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region.

  1996cited by this paper
• Two new members of the murine Sim gene family are transcriptional repressors and show different expression patterns during mouse embryogenesis

  1996cited by this paper
• The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome.

  1996cited by this paper
• A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

  1996cited by this paper
• Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping.

  1996cited by this paper
• Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

  1996cited by this paper
• Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21.

  1996cited by this paper
• Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II

  1996cited by this paper
• Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.

  1996cited by this paper
• A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region.

  1996cited by this paper
• Genetics of epilepsy : Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

  1996cited by this paper
• Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q.

  1996cited by this paper
• A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.

  1995cited by this paper
• Quantitative Monitoring of Gene Expression Patterns with a Complementary DNA Microarray

  1995cited by this paper
• Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.

  1995cited by this paper
• Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.

  1995cited by this paper
• Localization of cDNAs to a region poorly represented in the CEPH chromosome 21 YAC contig: candidate genes for genetic diseases mapped to 21q22.3.

  1995cited by this paper
• Molecular analysis and breakpoint definition of a set of human chromosome 21 somatic cell hybrids

  1995cited by this paper
• Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries.

  1995cited by this paper
• Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

  1995cited by this paper
• A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

  1995cited by this paper
• Single–minded and Down syndrome?

  1995cited by this paper
• Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

  1995cited by this paper
• Serial Analysis of Gene Expression

  1995cited by this paper
• Cosmid assembly and anchoring to human chromosome 21.

  1995cited by this paper
• minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila.

  1995cited by this paper
• A site–directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination

  1995cited by this paper
• Cloning and expression of the cDNA encoding rabbit liver carbonyl reductase.

  1995cited by this paper
• Localization of 102 exons to a 2.5 Mb region involved in Down syndrome.

  1995cited by this paper
• cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization.

  1995cited by this paper
• The origin of numerical chromosome abnormalities.

  1995cited by this paper
• A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

  1995cited by this paper
• 4 The Origin of Numerical Chromosome Abnormalities

  1995cited by this paper
• Report and abstracts of the Fifth International Workshop on Human Chromosome 21 Mapping 1994. Tsukuba, Japan, November 9-11, 1994.

  1995cited by this paper
• Report of the seventh international workshop on human chromosome 21 mapping 1997

  1995cited by this paper
• A mouse model for Down syndrome exhibits learning and behaviour deficits

  1995cited by this paper
• A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes.

  1995cited by this paper
• A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3

  1994cited by this paper
• Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

  1994cited by this paper
• Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations.

  1994cited by this paper
• An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21.

  1994cited by this paper
• A gene on human chromosome 21 located in the region 21q22.2 to 21q22.3 encodes a factor necessary for signal transduction and antiviral response to type I interferons.

  1994cited by this paper
• Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map.

  1994cited by this paper
• [Is drug prohibition an effective tool? An analysis from the forensic viewpoint].

  1994cited by this paper
• Down syndrome phenotypes: the consequences of chromosomal imbalance.

  1994cited by this paper
• How many genes in the human genome?

  1994cited by this paper
• A method for constructing radiation hybrid maps of whole genomes

  1994cited by this paper
• Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination.

  1994cited by this paper
• A transcript map of the Down syndrome critical region on chromosome 21.

  1994cited by this paper
• Physical mapping of chromosome 21.

  1993cited by this paper
• A Notl restriction map of the entire long arm of human chromosome 21

  1993cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

  1993cited by this paper
• A NotI restriction map of the entire long arm of human chromosome 21.

  1993cited by this paper
• A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM.

  1993cited by this paper
• Human chromosome 21: genome mapping and exploration, circa 1993.

  1993cited by this paper
• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

  1993cited by this paper
• Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

  1993cited by this paper
• Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

  1993cited by this paper
• Correlations between isochores and chromosomal bands in the human genome.

  1993cited by this paper
• Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

  1992cited by this paper
• Parental origin determination in thirty de novo Robertsonian translocations.

  1992cited by this paper
• The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

  1992cited by this paper
• Continuum of overlapping clones spanning the entire human chromosome 21q

  1992cited by this paper

• From understanding to action: Exploring molecular connections of Down syndrome to Alzheimer's disease for targeted therapeutic approach

  2024cites this paper
• Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome

  2023cites this paper
• Biochemical Serum Markers Influencing Maternal Age Risk for Down's Syndrome in Quadruple Marker

  2022cites this paper
• Study of the clinical features of Downs’s syndrome and relation between dermatoglyphics and congenital heart disease if any

  2022cites this paper
• Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

  2022cites this paper
• Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

  2021cites this paper
• Impaired Iron Homeostasis and Haematopoiesis Impacts Inflammation in the Ageing Process in Down Syndrome Dementia

  2021cites this paper
• Congenital Heart Disease and Surgical Outcome in Down Syndrome

  2021cites this paper
• Dermatoglyphics of the Digits and Inter-digit Areas in Down Syndrome Patients of a Sampled Nigeria Population

  2020cites this paper
• Down syndrome

  2020cites this paper
• Modeling Down syndrome in animals from the early stage to the 4.0 models and next.

  2020cites this paper
• Genetics and genomics of Down syndrome

  2019cites this paper
• Exosomal biomarkers in Down syndrome and Alzheimer's disease

  2018cites this paper
• De ziekte van Alzheimer bij mensen met het syndroom van Down

  2018cites this paper
• Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.

  2017cites this paper
• Mental Retardation and Human Chromosome 21 Gene Overdosage : From Functional Genomics and Molecular Mechanisms Towards Prevention and Treatment of the Neuropathogenesis of Down Syndrome

  2017influential citation
• Hippocampal overexpression of Down syndrome cell adhesion molecule in amyloid precursor protein transgenic mice

  2017cites this paper
• Plasma antioxidant enzymes and lipoperoxidation status in children with Down syndrome.

  2016cites this paper
• Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

  2016influential citation
• Down syndrome and the complexity of genome dosage imbalance

  2016cites this paper
• Chapter 15 – Down Syndrome

  2015cites this paper
• Applied Neurogenomics

  2015cites this paper
• Study of the Relation of Maternal Age with Down Syndrome

  2015cites this paper
• Stem and progenitor cell dysfunction in human trisomies

  2014cites this paper
• Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

  2014cites this paper
• Neurotransmitter-based strategies for the treatment of cognitive dysfunction in Down syndrome.

  2014cites this paper
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  2013cites this paper
• Systemic oxidative stress in children and teenagers with Down syndrome.

  2013cites this paper
• Overexpression of Down Syndrome Cell Adhesion Molecule impairs precise synaptic targeting

  2013cites this paper
• Molecular Pathways of Down Syndrome Critical Region Genes

  2013cites this paper
• Structural and functional analysis of single neurons to correlate synaptic connectivity with grooming behavior

  2013cites this paper
• Identical monochorionic twins with down syndrome and paternal origin of the extra chromosome 21.

  2012cites this paper
• Down Syndrome, Molecular Genetics Of Clinical Findings

  2012cites this paper
• Maternal SNPs in the p53 Pathway: Risk Factors for Trisomy 21?

  2012cites this paper
• Differential protein expression in normal and trisomic cell lines from murine cerebral cortex measured by itraq and Mass Spectrometry

  2012cites this paper
• Aneuploid human embryonic stem cells: origins and potential for modeling chromosomal disorders.

  2011cites this paper
• Mental Retardation and Human Chromosome 21 Gene Overdosage: From Functional Genomics and Molecular Mechanisms Towards Prevention and Treatment of the Neuropathogenesis of Down Syndrome

  2011influential citation
• Expression and significance of DSCAM in the cerebral cortex of APP transgenic mice.

  2011cites this paper
• Functional variants of the sphingosine-1-phosphate receptor 1 gene associate with asthma susceptibility.

  2010cites this paper
• Innovation of prenatal genetic diagnostics: in relation to improvement of care

  2010influential citation
• Human Embryonic Stem Cells as Models for Aneuploid Chromosomal Syndromes

  2010cites this paper
• Whole blood genomic biomarkers of acute cardiac allograft rejection.

  2009cites this paper
• ANTHROPOMETRY, MUSCULAR STRENGTH AND DERMATOGLYPHICS OF INDIVIDUALS WITH DOWN'S SYNDROME

  2009cites this paper
• Antropometria, força muscular e dermatoglifia de portadores da Síndrome de Down

  2009cites this paper
• Biology of vascular endothelium isolated from transgenic mice YAC67 and YAC84 -mouse models for Down syndrome

  2009cites this paper
• Intellectual Disability: Genetics

  2008cites this paper
• Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.

  2008cites this paper
• Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome

  2008cites this paper
• Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2

  2007cites this paper
• Down syndrome in Estonia

  2007influential citation
• New cerebellar phenotypes in YAC transgenic mouse in vivo library of human Down syndrome critical region-1.

  2007cites this paper
• Prenatal diagnosis in monozygotic twins with Down syndrome who had different phenotypes

  2007cites this paper
• Brain G protein-dependent signaling pathways in Down syndrome and Alzheimer’s disease

  2006cites this paper
• Polimorfismos del gen receptor de la vitamina D en personas con síndrome de Down

  2006cites this paper
• Vitamin D receptor gene polymorphisms in persons with Down's syndrome

  2006cites this paper
• Influence of advanced age of maternal grandmothers on Down syndrome

  2006cites this paper
• Proteomics‐driven progress in neurodegeneration research

  2006cites this paper
• Genetics, transcriptomics, and proteomics of Alzheimer's disease.

  2006cites this paper
• N6-methyladenine: the other methylated base of DNA.

  2006cites this paper
• Quantitative methylation-sensitive arbitrarily primed PCR method to determine differential genomic DNA methylation in Down Syndrome.

  2006cites this paper
• Gene Expression Analysis of Cultured Amniotic Fluid Cell with Down Syndrome by DNA Microarray

  2005cites this paper
• Gene expression profile of human Down syndrome leukocytes.

  2005cites this paper
• QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

  2005influential citation
• PCR-Based Detection of Parental Origin of Extra Chromosome 21 in Down Syndrome

  2005cites this paper
• Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

  2005cites this paper
• Increased dosage of Runx1/AML1 acts as a positive modulator of myeloid leukemogenesis in BXH2 mice

  2005cites this paper
• Regulation of the proapoptotic activity of huntingtin interacting protein 1 by Dyrk1 and caspase‐3 in hippocampal neuroprogenitor cells

  2005cites this paper
• Chromosome 21 and Down syndrome: from genomics to pathophysiology

  2004cites this paper
• Mammalian artificial chromosomes: modern day feats of engineering – Isambard Kingdom Brunel style

  2004cites this paper
• Molecular hierarchy in neurons differentiated from mouse ES cells containing a single human chromosome 21.

  2004cites this paper
• Alzheimer’s disease and NGF signaling

  2004cites this paper
• Proteomic signatures and aberrations of mouse embryonic stem cells containing a single human chromosome 21 in neuronal differentiation: an in vitro model of Down syndrome.

  2004cites this paper
• Application of proteomics technologies in the investigation of the brain.

  2004cites this paper
• Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

  2004cites this paper
• Gene Expression Profile Analysis in Human T Lymphocytes from Patients with Down Syndrome

  2004cites this paper
• Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice.

  2004cites this paper
• Aberrant protein expression in cerebral cortex of fetus with Down syndrome.

  2003cites this paper
• [Maternal age and Down syndrome in Northeast Brazil].

  2003cites this paper
• Animal models of mental retardation: from gene to cognitive function.

  2003cites this paper
• Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation

  2003cites this paper
• Enrichment of low-abundance brain proteins by preparative electrophoresis.

  2003cites this paper
• The mitochondrial proteins of the neuroblastoma cell line IMR‐32

  2003cites this paper
• Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21

  2003cites this paper
• DNA Diagnosis of Down Syndrome Using Polymerase Chain Reaction and Polymorphic Microsatellite Markers

  2003cites this paper
• Down syndrome and the transient myeloproliferative disorder: why is it transient?

  2002cites this paper
• Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?: Case Report

  2002cites this paper
• Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996.

  2002cites this paper
• Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

  2002cites this paper
• Proteomic analysis of the fetal brain

  2002cites this paper
• Excessive expression of synaptojanin in brains with Down syndrome.

  2002cites this paper
• Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

  2002cites this paper
• Anàlisi molecular de gens implicats a la síndrome de Down

  2002cites this paper
• Dizygotic twin boys born after ICSI with maternal meiosis I-derived free trisomy 21 in the first and multiple congenital anomalies in the second: chance or common aetiology?

  2002cites this paper
• Functional genomics of the Down syndrome.

  2001cites this paper
• A cSNP map and database for human chromosome 21.

  2001cites this paper
• High prevalence of antiphospholipid antibodies in children with epilepsy: a controlled study of 50 cases.

  2001cites this paper
• Cytogenetic and radiation hybrid mapping reveals conserved synteny and gene order between human Chromosome 21 and pig Chromosome 13

  2001cites this paper
• Mapping Human Chromosomes

  2001cites this paper
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