Concepedia

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

Michael B. Petersen, Oliver Bartsch, P A Adelsberger, Margareta Mikkelsen, E. Schwinger, Stylianos E. Antonarakis

Genomics · 1992 · 61 citations · 31 references

DOI

Concepts

References

31

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

J L Weber, Paula E. May · PubMed · 1989 · 3.4K citations

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

Webster K. Cavenee, Thaddeus P. Dryja, Robert A. Phillips et al. · Nature · 1983 · 1.9K citations

, , +14

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

Robert D. Nicholls, Joan H.M. Knoll, Merlin G. Butler et al. · Nature · 1989 · 887 citations

, , +11

Genomic imprinting: review and relevance to human diseases.

Judith G. Hall · PubMed · 1990 · 629 citations

, , +14

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

Eric Engel · American Journal of Medical Genetics · 1980 · 573 citations

, , +14