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

ISCN 1995 An international system for human cytogenetic nomenclature

1995 • 1,900 citations

The DNA sequence of human chromosome 21

2000 • 1,406 citations

Drosophila Dscam Is an Axon Guidance Receptor Exhibiting Extraordinary Molecular Diversity

2000 • 1,067 citations

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1959 • 809 citations

Catalogue of Unbalanced Chromosome Aberrations in Man

1983 • 759 citations

Down syndrome phenotypes: the consequences of chromosomal imbalance.

1994 • 731 citations

Epicardium-Derived Cells Contribute a Novel Population to the Myocardial Wall and the Atrioventricular Cushions

1998 • 516 citations

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

1993 • 448 citations

Expression of a Dominant Negative FGF Receptor Inhibits Axonal Growth and FGF Receptor Phosphorylation Stimulated by CAMs

1997 • 335 citations

The Consequences of Chromosome Imbalance

1986 • 314 citations

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

1998 • 271 citations

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

1989 • 261 citations

Pulmonary Hypoplasia in Down's Syndrome

1982 • 249 citations

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

1990 • 241 citations

Gene Encoding the β Subunit of S100 Protein Is on Chromosome 21: Implications for Down Syndrome

1988 • 222 citations

Molecular genetic approach to the characterization of the ?Down syndrome region? of chromosome 21

1989 • 195 citations

Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins.

1994 • 190 citations

The ets sequence from the transforming gene of avian erythroblastosis virus, E26, has unique domains on human chromosomes 11 and 21: both loci are transcriptionally active.

1985 • 177 citations

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

1992 • 173 citations

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses

1997 • 156 citations

The Genetics of Cardiovascular Disease

1987 • 147 citations

Induction of an epithelial-mesenchymal transition by an in vivo adheron-like complex

1989 • 144 citations

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

1988 • 134 citations

Perspectives in pediatric cardiology

1988 • 120 citations

Cloning of a Human Homolog of theDrosophila Minibrain/Rat Dyrk Gene from “the Down Syndrome Critical Region” of Chromosome 21

1996 • 118 citations

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

1992 • 97 citations

Clinical diagnosis of Down's syndrome

1976 • 86 citations

Conditioning of native substrates by chondroitin sulfate proteoglycans during cardiac mesenchymal cell migration.

1986 • 79 citations

Mechanisms of Segmentation, Septation, and Remodeling of the Tubular Heart

1999 • 79 citations

Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion

2000 • 79 citations

Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in down syndrome: A stochastic model

1985 • 76 citations

Human Genome Anatomy: BACs Integrating the Genetic and Cytogenetic Maps for Bridging Genome and Biomedicine

1999 • 68 citations

Expression of type VI collagen in the developing mouse heart

1998 • 68 citations

Expression of adhesion molecules during the formation and differentiation of the avian endocardial cushion tissue

1991 • 67 citations

Cloning of a Human RNA Editing Deaminase (ADARB1) of Glutamate Receptors That Maps to Chromosome 21q22.3

1997 • 57 citations

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

1992 • 52 citations

Increased adhesiveness of Down syndrome fetal fibroblasts in vitro.

1984 • 51 citations

A New Inward Rectifier Potassium Channel Gene (KCNJ15) Localized on Chromosome 21 in the Down Syndrome Chromosome Region 1 (DCR1)

1997 • 50 citations

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 • 50 citations

Characterization and variation of a human inwardly‐rectifying K‐channel gene (KCNJ6): a putative ATP‐sensitive K‐channel subunit

1995 • 49 citations

Heart Disease in Persons With Down Syndrome

1996 • 48 citations

BAC and PAC Contigs Covering 3.5 Mb of the Down Syndrome Congenital Heart Disease Region between D21S55 and MX1 on Chromosome 21

1997 • 41 citations

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)

1990 • 41 citations

Human cDNA mapping using a high-resolution R-banding technique and fluorescence in situ hybridization

1995 • 40 citations

Identification of a Novel Human Gene Containing the Tetratricopeptide Repeat Domain from the Down Syndrome Region of Chromosome 21

1996 • 35 citations

Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

1997 • 32 citations

Free proximal trisomy 21 without the Down syndrome

1987 • 32 citations

Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein

1998 • 31 citations

The human erg gene maps to chromosome 21, band q22: relationship to the 8; 21 translocation of acute myelogenous leukemia.

1988 • 28 citations

Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11–q13

1995 • 27 citations

Down Syndrome Critical Region Gene 2: Expression during Mouse Development and in Human Cell Lines Indicates a Function Related to Cell Proliferation

2000 • 24 citations

A Novel Gene Isolated from Human Placenta Located in Down Syndrome Critical Region on Chromosome 21

1997 • 22 citations

Simplifying the understanding of congenital malformations of the heart

1991 • 22 citations

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

1997 • 22 citations

A boy with Down's syndrome having recombinant chromosome 21 but no SOD‐1 excess

1987 • 21 citations

A diagnostic index for Down syndrome

1977 • 20 citations

Report of the committee on the genetic constitution of chromosome 21

1995 • 6 citations

Down syndrome due to a recombination of a chromosome 21 paracentric inversion in 1 of 2 cases with a review of paracentric recombinants

1994 • 1 citations