Affiliation: Technical University
- Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancerKarin Kast
Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany
BMC Cancer 12:531. 2012..Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare...
- Spectral karyotyping of human, mouse, rat and ape chromosomes--applications for genetic diagnostics and researchE Schrock
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany
Cytogenet Genome Res 114:199-221. 2006..Besides the hybridization of human chromosomes, mouse karyotyping has also contributed to the comprehensive characterization of mouse models of human disease and for gene therapy studies...
- A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disabilityN Tyshchenko
Institut für Klinische Genetik, TU Dresden, Germany
Am J Med Genet A 155:2060-5. 2011..We suggest that this entity is an autosomal dominant disorder given the occurrence in a mother and daughter as well as in an unrelated boy...
- Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complexS Zhan
Pediatric Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Blood 88:2714-21. 1996..In addition, the mRNA for p40-phox is expressed in megakaryocytic cells, but not in erythroid cells...
- Molecular cytogenetic characterization of the mantle cell lymphoma cell line GRANTA-519C Rudolph
Institute of Cell and Molecular Pathology, Hannover Medical School, Carl Neuberg Strasse 1, 30625 Hannover, Germany
Cancer Genet Cytogenet 153:144-50. 2004....
- Molecular cytogenetic characterization of pancreas cancer cell lines reveals high complexity chromosomal alterationsC A Griffin
Department of Pathology, Johns Hopkins University, Baltimore, MD, USA
Cytogenet Genome Res 118:148-56. 2007..We found significant heterogeneity in the breakpoints despite their G-band similarity, including multiple independent regions of loss proximal to the already identified loss of DPC4 at 18q21...