Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

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

1989 • 3,458 citations

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

1989 • 887 citations

Genomic imprinting: review and relevance to human diseases.

1990 • 621 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

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

1991 • 432 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

1991 • 271 citations

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

1990 • 254 citations

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

1992 • 212 citations

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

1989 • 210 citations

Maternal uniparental disomy for chromosome 14.

1991 • 200 citations

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

1992 • 171 citations

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

1992 • 151 citations

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1991 • 143 citations

Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event

1993 • 142 citations

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

1992 • 123 citations

Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

1991 • 121 citations

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

1991 • 87 citations

A genetic linkage map of 27 markers on human chromosome 21

1991 • 79 citations

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

1990 • 68 citations

Uniparental isodisomy due to duplication of chromosome 21 occuring in somatic cells monosomic for chromosome 21

1992 • 63 citations

Natural history of mosaic trisomy 14 syndrome

1992 • 52 citations

Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms

1992 • 49 citations

Mitotic recombination in yeast

1988 • 46 citations

The origin of mosaic Down syndrome: four cases with chromosome markers.

1984 • 45 citations

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

1991 • 35 citations

46,XX/47XX, + 14 mosaicism in a liveborn infant.

1977 • 33 citations

Loss of heterozygosity and mitotic linkage maps in the mouse.

1991 • 19 citations

Trisomy 14 mosaicism in a 2 year old girl.

1986 • 18 citations

Third international workshop on human chromosome 21

1992 • 12 citations