Logo Logo
Eine Ebene nach oben
Exportieren als [RSS feed] RSS 1.0 [RSS2 feed] RSS 2.0
Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 21

Zeitschriftenartikel

Steinlein, Ortrud K.; Reithmair, Marlene; Syunyaeva, Zulfiya und Sattler, Elke C. (2022): Delayed diagnosis of Birt-Hogg-Dube syndrome might be aggravated by gender bias. In: Eclinicalmedicine, Bd. 51 [PDF, 268kB]

Sattler, Elke C.; Syunyaeva, Zulfiya; Reithmair, Marlene; Dempke, Wolfram und Steinlein, Ortrud K. (2021): Colorectal cancer risk in families with Birt-Hogg-Dube syndrome increased. In: European Journal of Cancer, Bd. 151: S. 168-174

Brandes, Florian; Borrmann, Melanie; Buschmann, Dominik; Meidert, Agnes S.; Reithmair, Marlene; Langkamp, Markus; Pridzun, Lutz; Kirchner, Benedikt; Billaud, Jean-Noel; Amin, Nirav M.; Pearson, Joseph C.; Klein, Matthias; Hauer, Daniela; Zoubalan, Clarissa Gevargez; Lindemann, Anja; Chouker, Alexander; Felbinger, Thomas W.; Steinlein, Ortrud K.; Pfaffl, Michael W.; Kaufmann, Ines und Schelling, Gustav (2021): Progranulin signaling in sepsis, community-acquired bacterial pneumonia and COVID-19: a comparative, observational study. In: Intensive Care Medicine Experimental, Bd. 9, Nr. 1, 43

Brandes, Florian; Borrmann, Melanie; Buschmann, Dominik; Meidert, Agnes S.; Reithmair, Marlene; Langkamp, Markus; Pridzun, Lutz; Kirchner, Benedikt; Billaud, Jean-Noël; Amin, Nirav M.; Pearson, Joseph C.; Klein, Matthias; Hauer, Daniela; Gevargez Zoubalan, Clarissa; Lindemann, Anja; Choukér, Alexander; Felbinger, Thomas W.; Steinlein, Ortrud K.; Pfaffl, Michael W.; Kaufmann, Ines und Schelling, Gustav (2021): Progranulin signaling in sepsis, community-acquired bacterial pneumonia and COVID-19: a comparative, observational study. In: Intensive care medicine experimental, Bd. 9, 43 [PDF, 3MB]

Sattler, Elke C.; Syunyaeva, Zulfiya; Mansmann, Ulrich ORCID logoORCID: https://orcid.org/0000-0002-9955-8906 und Steinlein, Ortrud K. (2020): Response. In: Chest, Bd. 158, Nr. 4: S. 1793-1794

Sattler, Elke C.; Syunyaeva, Zulfiya; Mansmann, Ulrich und Steinlein, Ortrud K. (2020): Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome. In: Chest, Bd. 157, Nr. 5: S. 1199-1206

Steinlein, Ortrud K.; Ertl-Wagner, Birgit; Ruzicka, Thomas und Sattler, Elke C. (2018): Birt-Hogg-Dube syndrome: an underdiagnosed genetic tumor syndrome. In: Journal der Deutschen Dermatologischen Gesellschaft, Bd. 16, Nr. 3: S. 278-284

Sattler, E. C. und Steinlein, Ortrud K. (2018): Delayed diagnosis of Birt-Hogg-Dube syndrome due to marked intrafamilial clinical variability: a case report. In: BMC Medical Genetics 19:45 [PDF, 652kB]

Sattler, Elke C.; Reithmair, Marlene und Steinlein, Ortrud K. (2018): Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dube syndrome.
In: PLOS One 13(12), e0209504 [PDF, 768kB]

Buschmann, Dominik; Kirchner, Benedikt; Hermann, Stefanie; Maerte, Melanie; Wurmser, Christine; Brandes, Florian; Kotschote, Stefan; Bonin, Michael; Steinlein, Ortrud K.; Pfaffl, Michael W.; Schelling, Gustav und Reithmair, Marlene (2018): Evaluation of serum extracellular vesicle isolation methods for profiling miRNAs by next-generation sequencing. In: Journal of Extracellular Vesicles, Bd. 7, Nr. 1, 1481321 [PDF, 4MB]

Reithmair, Marlene; Buschmann, Dominik; Märte, Melanie; Kirchner, Benedikt; Hagl, Daniel; Kaufmann, Ines; Pfob, Martina; Chouker, Alexander; Steinlein, Ortrud K.; Pfaffl, Michael W. und Schelling, Gustav (2017): Cellular and extracellular miRNAs are blood-compartment-specific diagnostic targets in sepsis. In: Journal of Cellular and Molecular Medicine, Bd. 21, Nr. 10: S. 2403-2411 [PDF, 933kB]

Laviolette, Laura A.; Mermoud, Julien; Calvo, Isabel A.; Olson, Nicholas; Boukhali, Myriam; Steinlein, Ortrud K.; Roider, Elisabeth; Sattler, Elke C.; Huang, Dachuan; Teh, Bin Tean; Motamedi, Mo; Haas, Wilhelm und Iliopoulos, Othon (2017): Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein. In: Nature Communications, Bd. 8, 15866 [PDF, 2MB]

Mehraein, Yasmin; Schmid, Irene; Eggert, Marlene; Kohlhase, Jürgen und Steinlein, Ortrud K. (2016): DICER1 syndrome can mimic different genetic tumor predispositions. In: Cancer Letters, Bd. 370, Nr. 2: S. 275-278

Korenke, Georg-Christoph; Eggert, Marlene; Thiele, Holger; Nürnberg, Peter; Sander, Thomas und Steinlein, Ortrud K. (2016): Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. In: Epilepsia, Bd. 57, Nr. 3, E60-E63

Mehraein, Yasmin; Pfob, Martina; Steinlein, Ortrud K.; Aichinger, Eric; Eggert, Marlene; Bubendorff, Valerie; Mannhart, Adelina und Müller, Stefan (2015): 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3. In: Cytogenetic and Genome Research, Bd. 146, Nr. 1: S. 33-38 [PDF, 405kB]

Eggert, Marlene; Winterer, Georg; Wanischeck, Mario; Hoda, Jean-Charles; Bertrand, Daniel und Steinlein, Ortrud K. (2015): The nicotinic acetylcholine receptor alpha 4 subunit contains a functionally relevant SNP Haplotype. In: BMC Genetics 16:46 [PDF, 540kB]

Schmälter, Ann-Kristin; Kuzyk, Alexandra; Righolt, Christiaan H.; Neusser, Michaela; Steinlein, Ortrud K.; Müller, Stefan und Mai, Sabine (2014): Distinct nuclear orientation patterns for mouse chromosome 11 in normal B lymphocytes. In: BMC Cell Biology 15:22 [PDF, 1MB]

Eggert, Marlene; Pfob, Martina und Steinlein, Ortrud K. (2013): Melanocortin-3-receptor promoter polymorphism associated with tuberculosis susceptibility does not influence protein expression. In: BMC Research Notes 6:99 [PDF, 146kB]

Steinlein, Ortrud K.; Aichinger, Eric; Trucks, Holger und Sander, Thomas (2011): Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. In: BMC Medical Genetics 12:152 [PDF, 562kB]

Prodinger, Peter M.; Sarbia, Mario; Massann, Joerg; Straka, Christian; Meyer, Guenther und Steinlein, Ortrud K. (2010): Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature. In: BMC Cancer 10:360 [PDF, 772kB]

Konferenzbeitrag

Müller, Stefan; Kutschka, Ilona; Mehräin, Yasmin; Niculescu, Luana; Giehl, Kathrin und Steinlein, Ortrud K. (2017): A case of Rothmund-Thomson syndrome without mosaic trisomy 8, but with structural chromosome instability. 11th European Cytogenetics Conference, Florence, Italy, July 01-04, 2017. Molecular Cytogenetics. Bd. 10, Nr. Suppl. 3, 1.P82 BioMed Central. [PDF, 195kB]

Diese Liste wurde am Sun Mar 17 00:27:57 2024 CET erstellt.