Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

A Genetic Linkage Map of the Mouse: Current Applications and Future Prospects

1993 • 549 citations

A new genetic concept: Uniparental disomy and its potential effect, isodisomy

1980 • 529 citations

Uniparental disomy as a mechanism for human genetic disease.

1988 • 477 citations

Tetranucleotide repeat polymorphism at the human c-fes/fps proto-oncogene (FES)

1991 • 219 citations

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

1984 • 204 citations

Uniparental disomy for chromosome 16 in humans.

1993 • 190 citations

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

1992 • 171 citations

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci

1990 • 152 citations

Human cytogenetics: A practical approach

1987 • 138 citations

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

1992 • 130 citations

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

1994 • 121 citations

Nondisjunction of chromosome 15: origin and recombination.

1993 • 109 citations

Dinucleotide repeat polymorphism at the human CTLA4 gene

1991 • 103 citations

Follow‐up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

1993 • 61 citations

A Microsatellite Genetic Linkage Map of Human Chromosome 13

1993 • 53 citations

Regional localization of the gene for thyroid peroxidase to human chromosome 2pter→p12

1988 • 34 citations

The coding sequence for the human 18,000-dalton hydrophobie pulmonary surfactant protein is located on chromosome 2 and identifies a restriction fragment length polymorphism

1988 • 31 citations

Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: A possible association with intrauterine growth retardation and elevated maternal serum alpha‐fetoprotein

1992 • 28 citations

Dinucleotide repeat polymorphism at the human preproglucagon gene

1991 • 18 citations

Dinucleotide repeat polymorphism in the human surfactant-associated protein 3 gene (SFTP3).

1991 • 17 citations

Dinucleotide repeat polymorphism in the human interleukin 1, alpha gene (IL1A)

1991 • 14 citations

Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of a initial trisomy

1994 • 14 citations

Dinucleotide repeat polymorphism at the D12S43 locus

1990 • 7 citations

Dinucleotide repeat polymorphism at the D1S167 locus

1992 • 5 citations