Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)

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

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 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

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

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

1991 • 271 citations

The Frequency of Uniparental Disomy in Prader-Willi Syndrome

1992 • 260 citations

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

1992 • 244 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

Uniparental disomy for chromosome 16 in humans.

1993 • 190 citations

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

1994 • 179 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

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

1992 • 123 citations

Nondisjunction of chromosome 15: origin and recombination.

1993 • 109 citations

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.

1992 • 109 citations

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

1993 • 102 citations

Uniparental disomy revisited: The first twelve years

1993 • 96 citations

Genetic imprinting map.

1990 • 84 citations

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1980 • 82 citations

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1980 • 79 citations

Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome

1992 • 69 citations

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

1990 • 68 citations

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

1993 • 63 citations

Microsatellite Polymorphism Linkage Map of Human Chromosome 13q

1993 • 60 citations

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

1987 • 58 citations

A Microsatellite Genetic Linkage Map of Human Chromosome 13

1993 • 53 citations

Dinucleotide repeat polymorphism at the D16S288 locus

1991 • 51 citations

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

1994 • 47 citations

Trisomy 13 ascertained in a survey of spontaneous abortions.

1987 • 42 citations

Uniparental disomy: a novel mechanism for thalassemia major [letter]

1992 • 35 citations

Exclusively paternal X chromosomes in a girl with short stature

1993 • 34 citations

Uniparental disomy: a novel mechanism for thalassemia major [letter]

1992 • 21 citations

Genomic imprinting: Summary of an NICHD conference

1993 • 17 citations

Dinucleotide repeat polymorphism at the D14S34 locus

1990 • 12 citations