Cheryl DeScipio

TL;DR: The genomic structure of NIPBL is characterized and it is found that it is widely expressed in fetal and adult tissues and facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.

TL;DR: The spectrum and distribution of NIPBL mutations in a large well-characterized cohort of individuals with Cornelia de Lange syndrome suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations.

TL;DR: Immunohistochemical analysis of cyclin-dependent kinase inhibitor 1C expression and molecular genotyping accurately classify hydatidiform moles into complete and partial types and distinguish these from non-molar specimens.

TL;DR: These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast.

TL;DR: Current issues in the diagnosis of hydatidiform moles are discussed, including the limitations of morphologic diagnosis, the need for refined diagnosis to assure accurate ascertainment of risk of persistent gestational trophoblastic disease, the use of ancillary immunohistochemical and molecular techniques for providing such refined diagnosis, and problems that can be encountered with these techniques.