Published in Am J Hum Genet on July 01, 1991
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet (2007) 2.06
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol (2005) 1.64
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet (1998) 1.44
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. BMC Genomics (2007) 1.24
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Genome Res (2002) 0.94
Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: a model of Down syndrome. J Comp Neurol (2006) 0.92
Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes. Dev Neurosci (2011) 0.92
Down syndrome, autoimmunity and T regulatory cells. Clin Exp Immunol (2012) 0.92
Application of serial analysis of gene expression to the study of human genetic disease. Hum Genet (2009) 0.91
Methods for genetic linkage analysis using trisomies. Am J Hum Genet (1995) 0.89
Brain phenotype of transgenic mice overexpressing cystathionine β-synthase. PLoS One (2012) 0.87
A contiguous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high- throughput nonisotopic library screenings. Genome Res (1999) 0.87
Mutational analyses of the signals involved in the subcellular location of DSCR1. BMC Cell Biol (2002) 0.86
Isolation, characterization, and regional mapping of microclones from a human chromosome 21 microdissection library. Am J Hum Genet (1992) 0.83
Genome-wide expression analysis in Down syndrome: insight into immunodeficiency. PLoS One (2012) 0.80
The regulator of calcineurin 1 (RCAN1/DSCR1) activates the cAMP response element-binding protein (CREB) pathway. J Biol Chem (2011) 0.79
Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome. Braz J Med Biol Res (2014) 0.76
Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions. EMBO J (1990) 4.49
Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol (1985) 3.83
Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes. Cytogenet Cell Genet (1980) 3.52
In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics (1991) 2.28
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Classification: purposes, principles, progress, prospects. Science (1974) 2.14
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci U S A (1989) 2.06
Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics (1988) 1.99
Report of the committee on the genetic constitution of chromosomes 20 and 21. Cytogenet Cell Genet (1989) 1.80
Genetic linkage map of human chromosome 21. Genomics (1988) 1.79
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet (1990) 1.71
Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics (1987) 1.52
A genetic linkage map of 27 markers on human chromosome 21. Genomics (1991) 1.43
Quantitative CT analysis of brain morphometry in adult Down's syndrome at different ages. Neurology (1987) 1.43
The amyloid beta protein gene is not duplicated in brains from patients with Alzheimer's disease. Science (1987) 1.35
Down's syndrome and Alzheimer's disease: a review. Psychol Med (1986) 1.31
Evaluation of dermal patterns in Down's syndrome by predictive discrimination. I. Preliminary analysis based on frequencies of patterns. Johns Hopkins Med J (1971) 1.13
Down's syndrome, aging, and Alzheimer's disease: a clinical review. Ann N Y Acad Sci (1982) 1.01
Characteristics of children with phonologic disorders of unknown origin. J Speech Hear Disord (1986) 0.96
Down syndrome critical region around D21S55 on proximal 21q22.3. Am J Med Genet Suppl (1990) 0.92
Formal analysis of dysmorphism: objective methods of syndrome definition. Clin Genet (1983) 0.91
Down's syndrome: is there a decreased population of neurons? Neurology (1984) 0.90
Report of the committee on the genetic constitution of chromosome 21. Cytogenet Cell Genet (1990) 0.87
The development of language abilities in mongols: a correlational study. J Ment Defic Res (1977) 0.84
Atlantoaxial instability in Down syndrome: roentgenographic, neurologic, and somatosensory evoked potential studies. J Pediatr (1987) 0.84
Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21. Am J Hum Genet (1990) 0.84
Evaluation of dermal patterns in Down's syndrome by predictive discrimination. II. Composite score based on the combination of left and right pattern areas. Clin Genet (1971) 0.83
Cerebral metabolic pattern in young adult Down's syndrome subjects: altered intercorrelations between regional rates of glucose utilization. J Ment Defic Res (1990) 0.81
Serial quantitative CT analysis of brain morphometrics in adult Down's syndrome at different ages. Neurology (1989) 0.80
Dementia in Down's syndrome: cerebral glucose utilization, neuropsychological assessment, and neuropathology. Neurology (1988) 0.80
Auditory P300 response in the assessment of Alzheimer's disease in Down's syndrome: a 2-year follow-up study. J Ment Defic Res (1988) 0.80
Dichotic verbal processing in Down's syndrome children having qualitatively different speech and language skills. Am J Ment Defic (1977) 0.79
The ITPA and Down's syndrome: an exploratory study. Am J Ment Defic (1965) 0.78
The relationship between cluster and liquid simplification and sentence length, age, and IQ in Down's syndrome children. J Commun Disord (1989) 0.78
Neuropsychological correlates of information-processing by children with Down syndrome. Am J Ment Defic (1985) 0.77
Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation. Clin Genet (1984) 0.77
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
The DNA sequence of human chromosome 21. Nature (2000) 10.66
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
Nomenclature for the description of human sequence variations. Hum Genet (2001) 7.90
Dynamic brain sources of visual evoked responses. Science (2002) 7.06
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A (1983) 6.50
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature (1988) 6.01
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci U S A (1982) 5.85
Positional cloning of the APECED gene. Nat Genet (1997) 5.47
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. Proc Natl Acad Sci U S A (1991) 4.84
Structure of the cell wall anchor of surface proteins in Staphylococcus aureus. Science (1995) 4.27
A phase I evaluation of the safety and immunogenicity of vaccination with recombinant gp160 in patients with early human immunodeficiency virus infection. Military Medical Consortium for Applied Retroviral Research. N Engl J Med (1991) 4.23
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12
Tumour necrosis factor as immunomodulator and mediator of monocyte cytotoxicity induced by itself, gamma-interferon and interleukin-1. Nature (1986) 4.06
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet (1997) 3.95
OMIM passes the 1,000-disease-gene mark. Nat Genet (2000) 3.92
Structural organization of mouse peroxisome proliferator-activated receptor gamma (mPPAR gamma) gene: alternative promoter use and different splicing yield two mPPAR gamma isoforms. Proc Natl Acad Sci U S A (1995) 3.89
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 3.74
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72
Who should own scientific papers? Science (1998) 3.62
Removal of eye activity artifacts from visual event-related potentials in normal and clinical subjects. Clin Neurophysiol (2000) 3.57
Face processing occurs outside the fusiform 'face area' in autism: evidence from functional MRI. Brain (2001) 3.24
Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J (1985) 3.18
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis (1994) 3.12
Sequences of the malE gene and of its product, the maltose-binding protein of Escherichia coli K12. J Biol Chem (1984) 3.10
Evidence for a cerebellar role in reduced exploration and stereotyped behavior in autism. Biol Psychiatry (2001) 3.09
Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors. Proc Natl Acad Sci U S A (1998) 3.07
AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics (1994) 3.02
Prevalence of 22q11 microdeletion. J Med Genet (1996) 2.90
Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA. Proc Natl Acad Sci U S A (1983) 2.84
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP. Nat Cell Biol (2001) 2.75
A unique set of polypeptides is induced by gamma interferon in addition to those induced in common with alpha and beta interferons. Nature (1983) 2.68
Stimulus novelty, task relevance and the visual evoked potential in man. Electroencephalogr Clin Neurophysiol (1975) 2.58
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49
Analysis and visualization of single-trial event-related potentials. Hum Brain Mapp (2001) 2.48
Overproduction of human Cu/Zn-superoxide dismutase in transfected cells: extenuation of paraquat-mediated cytotoxicity and enhancement of lipid peroxidation. EMBO J (1986) 2.45
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet (1992) 2.40
Superoxide radical and iron modulate aconitase activity in mammalian cells. J Biol Chem (1995) 2.38
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37
The mouse c-abl locus: molecular cloning and characterization. Cell (1984) 2.33
Use of gene fusions to determine a partial signal sequence of alkaline phosphatase. J Bacteriol (1979) 2.29
Polycythemia in transgenic mice expressing the human erythropoietin gene. Proc Natl Acad Sci U S A (1989) 2.27
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum Mol Genet (1998) 2.24
Methylated, blocked 5' termini of yeast mRNA. J Biol Chem (1976) 2.20
Intracellular trehalose improves the survival of cryopreserved mammalian cells. Nat Biotechnol (2000) 2.20
Autism as a disorder of neural information processing: directions for research and targets for therapy. Mol Psychiatry (2004) 2.19
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
The organization of the araBAD operon of Escherichia coli. Gene (1986) 2.16
Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group. Epidemiology (1997) 2.15
Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome. Proc Natl Acad Sci U S A (1987) 2.12
Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc Natl Acad Sci U S A (1991) 2.10
Attentional activation of the cerebellum independent of motor involvement. Science (1997) 2.10
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature (1997) 2.09
DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet (1985) 2.09
Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. Proc Natl Acad Sci U S A (1991) 2.09
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med (1983) 2.06
Post-transcriptional and translational controls of gene expression in eukaryotes. Annu Rev Biochem (1978) 2.06
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
First information and support provided to parents of children with Down syndrome in Sweden: clinical goals and parental experiences. Acta Paediatr (2002) 2.04
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J (1984) 2.04
Maternal-age effect in aneuploidy: does altered embryonic selection play a role? Am J Hum Genet (1982) 2.03
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A (1984) 2.00
Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature (1982) 1.98
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet (1998) 1.98
Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1. Proc Natl Acad Sci U S A (1997) 1.97
Reduced size of corpus callosum in autism. Arch Neurol (1995) 1.94
CD30-positive large cell lymphomas ('Ki-1 lymphoma') are associated with a chromosomal translocation involving 5q35. Br J Haematol (1990) 1.93
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A (1984) 1.92
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med (1985) 1.91
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet (2008) 1.88
Sequence heterogeneity at the 5' termini of late simian virus 40 19S and 16S mRNAs. Proc Natl Acad Sci U S A (1979) 1.88
Human erythropoietin gene expression in transgenic mice: multiple transcription initiation sites and cis-acting regulatory elements. Mol Cell Biol (1990) 1.88
5'-Terminal sequences and coding region of late simian virus 40 mRNAs are derived from noncontiguous segments of the viral genome. Proc Natl Acad Sci U S A (1977) 1.88
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet (1998) 1.87
Specific cloning of human DNA as yeast artificial chromosomes by transformation-associated recombination. Proc Natl Acad Sci U S A (1996) 1.86
Fluorescence-activated cell sorting of human T and B lymphocytes. II. Identification of the cell type responsible for interferon production and cell proliferation in response to mitogens. Cell Immunol (1974) 1.85
Construction of human chromosome 21-specific yeast artificial chromosomes. Proc Natl Acad Sci U S A (1989) 1.83
Isolation and characterization of the human MRE11 homologue. Genomics (1995) 1.83
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet (1989) 1.81
beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proc Natl Acad Sci U S A (1984) 1.81
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet (1997) 1.79
Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. EMBO J (1985) 1.79
Characterization of genomic and complementary DNA sequence of human C-reactive protein, and comparison with the complementary DNA sequence of serum amyloid P component. J Biol Chem (1985) 1.79
Translational discrimination of 'capped' and 'non-capped' mRNAS: inhibition of a series of chemical analogs of m7GpppX. FEBS Lett (1976) 1.77
Identification and mapping of N6-methyladenosine containing sequences in simian virus 40 RNA. Nucleic Acids Res (1979) 1.75
PPD-stimulated interferon: in vitro macrophage-lymphocyte interaction in the production of a mediator of cellular immunity. Cell Immunol (1971) 1.75
The in vitro synthesis of avian myeloblastosis viral RNA sequences. Proc Natl Acad Sci U S A (1974) 1.74
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
Functionally independent components of the late positive event-related potential during visual spatial attention. J Neurosci (1999) 1.73
Selective increase in lymphocyte interferon response to vaccinia antigen after revaccination. Proc Natl Acad Sci U S A (1972) 1.73
In vivo myeloarchitectonic analysis of human striate and extrastriate cortex using magnetic resonance imaging. Cereb Cortex (1992) 1.72