Johanne M D Hahnemann
Kennedy Center(DK)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Pancreatic function and diabetes
Most-Cited Works
- → Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57(2008)536 cited
- → Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries(2001)239 cited
- → Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992(1997)198 cited
- → A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus(2006)191 cited
- → European collaborative research on mosaicism in CVS (EUCROMIC)—fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy(1997)149 cited
- → Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism(1998)131 cited
- → Non-disjunction of chromosome 13(2007)120 cited
- → Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci(2012)92 cited
- → Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations(2005)84 cited
- → Characterization ofATM mutations in 41 Nordic families with Ataxia Telangiectasia(2000)67 cited