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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B. Richter S, et al. Among authors: aust d. Genet Med. 2019 Mar;21(3):705-717. doi: 10.1038/s41436-018-0106-5. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050099 Free PMC article.
An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.
Pistorius S, Klink B, Pablik J, Rump A, Aust D, Garzarolli M, Schröck E, Schackert HK. Pistorius S, et al. Among authors: aust d. Hered Cancer Clin Pract. 2016 May 10;14:11. doi: 10.1186/s13053-016-0051-8. eCollection 2016. Hered Cancer Clin Pract. 2016. PMID: 27168869 Free PMC article.
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B. Gieldon L, et al. Among authors: aust d. Eur J Endocrinol. 2018 Feb;178(2):K1-K9. doi: 10.1530/EJE-17-0714. Epub 2017 Nov 20. Eur J Endocrinol. 2018. PMID: 29158289
[Early stage pancreatic cancer].
Kahlert C, Distler M, Aust D, Gieldon L, Weitz J, Welsch T. Kahlert C, et al. Among authors: aust d. Chirurg. 2018 Apr;89(4):257-265. doi: 10.1007/s00104-017-0569-y. Chirurg. 2018. PMID: 29264630 Review. German.
Repeat FMISO-PET imaging weakly correlates with hypoxia-associated gene expressions for locally advanced HNSCC treated by primary radiochemotherapy.
Löck S, Linge A, Seidlitz A, Bandurska-Luque A, Nowak A, Gudziol V, Buchholz F, Aust DE, Baretton GB, Zöphel K, Steinbach J, Kotzerke J, Overgaard J, Zips D, Krause M, Baumann M, Troost EGC. Löck S, et al. Among authors: aust de. Radiother Oncol. 2019 Jun;135:43-50. doi: 10.1016/j.radonc.2019.02.020. Epub 2019 Mar 9. Radiother Oncol. 2019. PMID: 31015169
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B. Zakrzewski F, et al. Among authors: aust d. BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6. BMC Cancer. 2019. PMID: 31029168 Free PMC article.
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, Rump A, Bechmann N, Nölting S, Knösel T, Gudziol V, Constantinescu G, Masjkur J, Beuschlein F, Timmers HJ, Canu L, Pacak K, Robledo M, Aust D, Schröck E, Eisenhofer G, Richter S, Klink B. Gieldon L, et al. Among authors: aust d. Cancers (Basel). 2019 Jun 11;11(6):809. doi: 10.3390/cancers11060809. Cancers (Basel). 2019. PMID: 31212687 Free PMC article.
Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas.
Wallace PW, Conrad C, Brückmann S, Pang Y, Caleiras E, Murakami M, Korpershoek E, Zhuang Z, Rapizzi E, Kroiss M, Gudziol V, Timmers HJ, Mannelli M, Pietzsch J, Beuschlein F, Pacak K, Robledo M, Klink B, Peitzsch M, Gill AJ, Tischler AS, de Krijger RR, Papathomas T, Aust D, Eisenhofer G, Richter S. Wallace PW, et al. Among authors: aust d. J Pathol. 2020 Aug;251(4):378-387. doi: 10.1002/path.5472. Epub 2020 Jul 1. J Pathol. 2020. PMID: 32462735 Free PMC article.
235 results