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

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

1987 • 1,589 citations

Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes

1980 • 468 citations

Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome.

1987 • 461 citations

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

1989 • 261 citations

Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase

1988 • 220 citations

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

1989 • 195 citations

Trisomie 21 et superoxyde dismutase-1 (IPO-A)

1976 • 175 citations

Down's syndrome

1974 • 134 citations

Impaired neurotransmitter uptake in PC12 cells overexpressing human Cu/Zn-superoxide dimutase-implication for gene dosage effects in down syndrome

1988 • 118 citations

High-resolution chromosome analysis in clinical medicine.

1978 • 103 citations

Clinical diagnosis of Down's syndrome

1976 • 86 citations

Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.

1988 • 74 citations

The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105–q21.05

1989 • 57 citations

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

1987 • 57 citations

Trisomy 21 for the region 21q223: Identification by high-resolution R-banding patterns

1981 • 48 citations

Isolation and regional mapping of DNA sequences unique to human chromosome 21.

1987 • 45 citations

[Partial trisomy 21 (21q21 - 21q22.2)].

1976 • 43 citations

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

1973 • 34 citations

Free proximal trisomy 21 without the Down syndrome

1987 • 32 citations

Normal phenotype and partial trisomy for the G positive region of chromosome 21.

1979 • 26 citations

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

1987 • 21 citations

Localization of the ?-globin gene to 11p15 by in situ hybridization: Utilization of chromosome 11 rearrangements

1985 • 16 citations

Terminal deletion(4)(q33) in a male infant

1982 • 16 citations

Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.

1981 • 13 citations