Genomes and Genes
Affiliation: University Hospital
- Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)Alexander Puzik
Department of Pediatrics, Albert Ludwigs University of Freiburg, Mathildenstrasse 1, D 79106 Freiburg, Germany
BMC Pediatr 14:13. 2014..Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported...
- Isolated hypoplastic circumflex coronary artery: a rare cause of haemorrhagic myocardial infarction in a young athleteFlorian Nikolaus Riede
Department of Cardiology, University Hospital Basel, Petersgraben 3, CH 4031 Basel, Switzerland
Diagn Pathol 8:91. 2013..Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1558483061962648...
- Multifocal gastric gastrointestinal stromal tumors (GISTs) with lymph node metastases in children and young adults: a comparative clinical and histomorphological study of three cases including a new case of Carney triadClaudia Otto
Institute of Pathology, University Hospital Freiburg, Germany
Diagn Pathol 6:52. 2011..Both, pediatric and CT-GISTs, metastasize frequently to regional lymph nodes (29%) and are usually wild type (WT) for common KIT-/PDGFRA mutations...
- Value of epithelioid morphology and PDGFRA immunostaining pattern for prediction of PDGFRA mutated genotype in gastrointestinal stromal tumors (GISTs)Abbas Agaimy
Institute of Pathology, Friedrich Alexander University Erlangen, Germany
Int J Clin Exp Pathol 6:1839-46. 2013..Our aim was to evaluate the predictive value of a combined histomorphological-immunohistochemical pattern analysis of PDGFRA-mutated GISTs to efficiently direct KIT and PDGFRA mutation analysis...
- Simultaneous multi-antibody staining in non-small cell lung cancer strengthens diagnostic accuracy especially in small tissue samplesGian Kayser
Institute of Pathology, University Hospital Freiburg, Freiburg, Germany
PLoS ONE 8:e56333. 2013..Integration of immunohistochemical subtyping including investigation of neuroendocrine differentiation into standard histopathological classification of NSCLC must, therefore, be considered...
- Combined DNA methylation and gene expression profiling in gastrointestinal stromal tumors reveals hypomethylation of SPP1 as an independent prognostic factorFlorian Haller
Institute of Pathology, Friedrich Alexander University, Erlangen Nuremberg, Germany
Int J Cancer 136:1013-23. 2015..In summary, SPP1 promoter methylation is a novel and independent prognostic parameter in GISTs, and might be helpful in estimating the aggressiveness of GISTs from the intermediate-risk category. ..
- Acute fibrinous and organizing pneumonia associated with influenza A/H1N1 pneumonia after lung transplantationClaudia Otto
Institute of Pathology, University Medical Center Freiburg, Breisacher Strasse 115a, Freiburg, D 79106, Germany
BMC Pulm Med 13:30. 2013..Acute Fibrinous and Organizing Pneumonia (AFOP) is a special histological pattern in acute respiratory failure with high mortality...
- Molecular modeling and description of a newly characterized activating mutation of the EGFR gene in non-small cell lung cancerClaudia Otto
Institute of Pathology, University Medical Center Freiburg, Breisacher Strasse 115a, D 79106, Freiburg, Germany
Diagn Pathol 7:146. 2012..e. at least exons 18, 19 and 21, should therefore be conducted to provide best medical care and to offer lung cancer patients appropriate cancer treatment...