Dieter Kotzot
Paracelsus Medical University(AT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetic Syndromes and Imprinting, Chromosomal and Genetic Variations, Epigenetics and DNA Methylation
Most-Cited Works
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation(1995)302 cited
- → Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia(2001)241 cited
- → Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements(2001)201 cited
- → Complex and segmental uniparental disomy updated(2008)190 cited
- → Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15(1999)188 cited
- A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.