Published in Genet Med on April 02, 2001
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
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
Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood (2009) 1.84
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart. Genome Biol (2005) 1.64
Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting. Nat Neurosci (2013) 1.63
Molecular genetic analysis of Down syndrome. Hum Genet (2009) 1.52
Dscam guides embryonic axons by Netrin-dependent and -independent functions. Development (2008) 1.50
Atrioventricular septal defect: from fetus to adult. Heart (2006) 1.49
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet (2003) 1.42
The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion. Differentiation (2012) 1.34
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. BMC Genomics (2007) 1.24
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21. BMC Med Genet (2006) 1.19
Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model. Mamm Genome (2006) 1.11
The power of comparative and developmental studies for mouse models of Down syndrome. Mamm Genome (2007) 1.07
Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in Down syndrome. BMC Med Genomics (2013) 1.01
The Down syndrome critical region regulates retinogeniculate refinement. J Neurosci (2011) 1.00
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2. PLoS One (2010) 0.96
Euchromatin islands in large heterochromatin domains are enriched for CTCF binding and differentially DNA-methylated regions. BMC Genomics (2012) 0.94
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Genome Res (2002) 0.94
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. PLoS Genet (2011) 0.92
Fruit flies and intellectual disability. Fly (Austin) (2009) 0.92
Faithful tissue-specific expression of the human chromosome 21-linked COL6A1 gene in BAC-transgenic mice. Mamm Genome (2007) 0.86
Structural and functional analysis of single neurons to correlate synaptic connectivity with grooming behavior. Nat Protoc (2013) 0.85
Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes. Blood (2013) 0.84
Heart defects and ocular anomalies in children with Down's syndrome. Br J Ophthalmol (2002) 0.82
The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia. Pediatr Surg Int (2008) 0.82
Echocardiography in children with Down syndrome. World J Clin Pediatr (2013) 0.81
Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix. Proteome Sci (2009) 0.81
Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel. Elife (2016) 0.80
Cardiovascular development and survival during gestation in the Ts65Dn mouse model for Down syndrome. Anat Rec (Hoboken) (2010) 0.79
Association Between Sequence Variations in RCAN1 Promoter and the Risk of Sporadic Congenital Heart Disease in a Chinese Population. Pediatr Cardiol (2015) 0.78
Down syndrome and the complexity of genome dosage imbalance. Nat Rev Genet (2016) 0.77
The use of mouse models for understanding the biology of down syndrome and aging. Curr Gerontol Geriatr Res (2012) 0.77
Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network. Int J Clin Exp Pathol (2015) 0.76
An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21. Biol Open (2013) 0.75
Generation of a panel of antibodies against proteins encoded on human chromosome 21. J Negat Results Biomed (2010) 0.75
A physical map of the human genome. Nature (2001) 12.39
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet (1997) 6.66
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58
Complementary signaling pathways regulate the unfolded protein response and are required for C. elegans development. Cell (2001) 5.39
KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Nat Genet (1997) 4.46
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
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
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet (1992) 3.74
Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci U S A (1994) 3.61
Mef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesis. Development (1994) 3.53
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature (1996) 3.21
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology (1999) 2.91
Distinctive molecular profiles of high-grade and low-grade gliomas based on oligonucleotide microarray analysis. Cancer Res (2001) 2.90
Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Brain Res (1986) 2.77
Requirement of the MADS-box transcription factor MEF2C for vascular development. Development (1998) 2.63
Identification of a human gene (HCK) that encodes a protein-tyrosine kinase and is expressed in hemopoietic cells. Mol Cell Biol (1987) 2.59
Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res (1998) 2.56
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat (2006) 2.39
Analysis of clonal relationships among isolates of Shigella sonnei by different molecular typing methods. J Clin Microbiol (1995) 2.28
Jumonji, a nuclear protein that is necessary for normal heart development. Circ Res (2000) 2.26
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
Unique forms of human and mouse nuclear receptor corepressor SMRT. Proc Natl Acad Sci U S A (1999) 2.10
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet (1986) 2.07
A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X;autosome translocation. Am J Med Genet (1997) 2.05
Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics (1988) 1.99
Scleraxis: a basic helix-loop-helix protein that prefigures skeletal formation during mouse embryogenesis. Development (1995) 1.99
Specific cloning of human DNA as yeast artificial chromosomes by transformation-associated recombination. Proc Natl Acad Sci U S A (1996) 1.86
Prospective karyotype analysis in adult acute lymphoblastic leukemia: the cancer and leukemia Group B experience. Blood (1999) 1.85
VI. Genome structure and cognitive map of Williams syndrome. J Cogn Neurosci (2000) 1.83
Isolation and characterization of the human MRE11 homologue. Genomics (1995) 1.83
Akt2 mRNA is highly expressed in embryonic brown fat and the AKT2 kinase is activated by insulin. Oncogene (1998) 1.82
Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med (2001) 1.81
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
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). Am J Hum Genet (2000) 1.78
Rapid diagnosis of tuberculous meningitis by a simplified nested amplification protocol. Neurology (1994) 1.78
Sensitive detection of human papillomavirus in cervical, head/neck, and schistosomiasis-associated bladder malignancies. Proc Natl Acad Sci U S A (2005) 1.74
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet (1997) 1.74
Prenatal diagnosis of human genome variation. Annu Rev Genet (1979) 1.73
Deletions of different segments of the long arm of chromosome 4. Am J Med Genet (1981) 1.72
Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21. Am J Hum Genet (1998) 1.72
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet (1997) 1.71
The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol (2001) 1.70
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet (1997) 1.68
Expression of the novel basic helix-loop-helix gene eHAND in neural crest derivatives and extraembryonic membranes during mouse development. Dev Biol (1995) 1.68
Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet (1998) 1.68
A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet (1987) 1.68
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet (2001) 1.68
Expression patterns of the four nuclear factor I genes during mouse embryogenesis indicate a potential role in development. Dev Dyn (1997) 1.67
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends Neurosci (1999) 1.62
The muscle regulatory gene, Myf-6, has a biphasic pattern of expression during early mouse development. J Cell Biol (1991) 1.60
Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res (1997) 1.59
Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region". Genomics (1996) 1.58
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A (2009) 1.57
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet (1998) 1.57
A novel cardiac-restricted target for doxorubicin. CARP, a nuclear modulator of gene expression in cardiac progenitor cells and cardiomyocytes. J Biol Chem (1997) 1.54
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr (2001) 1.50
The regulation of MyoD gene expression: conserved elements mediate expression in embryonic axial muscle. Dev Biol (1995) 1.50
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet (1998) 1.49
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet (1993) 1.47
Alagille syndrome. J Med Genet (1997) 1.47
Assignment of CSF-1 to 5q33.1: evidence for clustering of genes regulating hematopoiesis and for their involvement in the deletion of the long arm of chromosome 5 in myeloid disorders. Proc Natl Acad Sci U S A (1987) 1.47
Identification of a major cluster of Klebsiella pneumoniae isolates from patients with liver abscess in Taiwan. J Clin Microbiol (2000) 1.46
APP-BP1, a novel protein that binds to the carboxyl-terminal region of the amyloid precursor protein. J Biol Chem (1996) 1.46
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet (1999) 1.46
Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res (1983) 1.45
Characterization of murine BATF: a negative regulator of activator protein-1 activity in the thymus. Eur J Immunol (2001) 1.45
Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA. Mech Dev (1997) 1.45
Consequences of JAG1 mutations. J Med Genet (2003) 1.44
Base ratio, DNA content, and quinacrine-brightness of human chromosomes. Proc Natl Acad Sci U S A (1978) 1.43
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet (2000) 1.42
Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. J Biol Chem (1993) 1.42
Evolution of the mammalian G protein alpha subunit multigene family. Nat Genet (1992) 1.41
Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet (1997) 1.41
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. Am J Med Genet (1995) 1.40
Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. J Biol Chem (1994) 1.40
Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac. Am J Med Genet (1985) 1.40
Satellite DNA and heterochromatin variants: the case for unequal mitotic crossing over. Hum Genet (1979) 1.39
Study of clonality in myelodysplastic syndromes: detection of trisomy 8 in bone marrow cell smears by fluorescence in situ hybridization. Leuk Res (1996) 1.37
Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn (2001) 1.35
Necrotizing fasciitis associated with Klebsiella pneumoniae liver abscess. Clin Infect Dis (1999) 1.32
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes. Mol Immunol (1998) 1.31
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr (1994) 1.30
A bacterial artificial chromosome-based framework contig map of human chromosome 22q. Proc Natl Acad Sci U S A (1996) 1.30
Distribution of apolipoprotein A-I, C-II, C-III, and E mRNA in fetal human tissues. Time-dependent induction of apolipoprotein E mRNA by cultures of human monocyte-macrophages. Biochemistry (1985) 1.30
Giemsa technique for the detection of sister chromatid exchanges. Chromosoma (1974) 1.29