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

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Superoxide dismutase: Improved assays and an assay applicable to acrylamide gels

1971 • 11,879 citations

New Giemsa method for the differential staining of sister chromatids

1974 • 3,198 citations

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome

1985 • 313 citations

High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.

1983 • 274 citations

Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.

1983 • 193 citations

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

1976 • 175 citations

Down's syndrome

1974 • 134 citations

Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.

1982 • 95 citations

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

1975 • 77 citations

Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

1979 • 66 citations

Partial trisomy 21

1973 • 65 citations

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

1981 • 48 citations

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

1976 • 43 citations

Moderate Down's syndrome in three siblings having partial trisomy 21q22.2?qter and therefore no SOD-1 excess

1982 • 43 citations

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21

1977 • 37 citations

Confirmation of the assignment of the human <i>SOD<sub>S</sub> </i>gene to chromosome 21q22

1978 • 26 citations

SOD-A and chromosome 21

1981 • 24 citations

TRISOMIE 21 PARTIELLE (21Q21->21Q22.2)

1976 • 20 citations

Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.

1982 • 18 citations

Atypical Down syndrome and partial trisomy 21

2008 • 18 citations

[Partial trisomy for the segment 21(q11----qter) resulting from a de novo translocation between chromosomes 5 and 21].

1984 • 4 citations