1. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus;Abramowicz;J Clin Invest,1994
2. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14;Antonarakis;Am J Hum Genet,1993
3. Uniparental disomy: a novel mechanism for thalassemia major;Beldjord;Blood,1992
4. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency;Benlian;Am J Hum Genet,1996
5. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q);Bernasconi;Am J Hum Genet,1996