33 Einträge gefunden

1. Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor

   1. Thomas, Christian
   2. Oehl-Huber, Kathrin
   3. Bens, Susanne
   4. Soschinski, Patrick
   5. Koch, Arend
   6. Nemes, Karolina
   7. Oyen, Florian

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma

   1. Thomas, Christian
   2. Federico, Aniello
   3. Sill, Martin
   4. Bens, Susanne
   5. Oyen, Florian
   6. Nemes, Karolina
   7. Johann, Pascal D

   2021 - Forschungsinformationssystem des UKE
3. Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

   1. Kordes, Uwe
   2. Mautner, Victor-Felix
   3. Oyen, Florian
   4. Hagel, Christian
   5. Hartmann, Christian
   6. Heuser, Michael
   7. Frühwald, Michael

   2021 - Forschungsinformationssystem des UKE
4. Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study

   1. Springer, Adrian
   2. Schleberger, Ruben
   3. Oyen, Florian
   4. Hoffmann, Boris A
   5. Willems, Stephan
   6. Meyer, Christian
   7. Langer, Florian

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors

   1. Pathak, Rajiv
   2. Zin, Francesca
   3. Thomas, Christian
   4. Bens, Susanne
   5. Gayden, Tenzin
   6. Karamchandani, Jason
   7. Dudley, Roy W

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
6. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults

   1. Thomas, Christian
   2. Wefers, Annika
   3. Bens, Susanne
   4. Nemes, Karolina
   5. Agaimy, Abbas
   6. Oyen, Florian
   7. Vogelgesang, Silke

   2020 - Forschungsinformationssystem des UKE
7. Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

   1. Thomas, Christian
   2. Knerlich-Lukoschus, Friederike
   3. Reinhard, Harald
   4. Johann, Pascal D
   5. Sturm, Dominik
   6. Sahm, Felix
   7. Bens, Susanne

   2019 - Forschungsinformationssystem des UKE
8. Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany

   1. Hassenpflug, Wolf Achim
   2. Obser, Tobias
   3. Bode, Julia
   4. Oyen, Florian
   5. Budde, Ulrich
   6. Schneppenheim, Sonja
   7. Schneppenheim, Reinhard

   2018 - Forschungsinformationssystem des UKE
9. Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities:a meta-analysis

   1. Holsten, Till
   2. Bens, Susanne
   3. Oyen, Florian
   4. Nemes, Karolina
   5. Hasselblatt, Martin
   6. Kordes, Uwe
   7. Siebert, Reiner

   2018 - Forschungsinformationssystem des UKE
10. Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup

    1. Johann, Pascal D
    2. Bens, Susanne
    3. Oyen, Florian
    4. Wagener, Rabea
    5. Giannini, Caterina
    6. Perry, Arie
    7. Raisanen, Jack M

    2018 - Forschungsinformationssystem des UKE
11. Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

    1. Johann, Pascal D
    2. Hovestadt, Volker
    3. Thomas, Christian
    4. Jeibmann, Astrid
    5. Heß, Katharina
    6. Bens, Susanne
    7. Oyen, Florian

    2017 - Forschungsinformationssystem des UKE
12. Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

    1. Kerl, Kornelius
    2. Oyen, Florian
    3. Giannikopoulou, Dimitra
    4. Rössig, Claudia
    5. Rellensmann, Georg
    6. Sandkötter, Julia
    7. Brentrup, Angela

    2016 - Forschungsinformationssystem des UKE
13. Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

    1. Hasselblatt, Martin
    2. Thomas, Christian
    3. Hovestadt, Volker
    4. Schrimpf, Daniel
    5. Johann, Pascal
    6. Bens, Susanne
    7. Oyen, Florian

    2016 - Forschungsinformationssystem des UKE
14. Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?

    1. Vokuhl, Christian
    2. Oyen, Florian
    3. Häberle, Beate
    4. von Schweinitz, Dietrich
    5. Schneppenheim, Reinhard
    6. Leuschner, Ivo

    2016 - Forschungsinformationssystem des UKE
15. The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)

    1. Grosse, Regine
    2. Lukacs, Zoltan
    3. Cobos, Paulina Nieves
    4. Oyen, Florian
    5. Ehmen, Christa
    6. Muntau, Birgit
    7. Timmann, Christian

    2016 - Forschungsinformationssystem des UKE
16. Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report

    1. Arnhold, Viktor
    2. Oyen, Florian
    3. Schneppenheim, Reinhard
    4. Haberl, Hannes
    5. Koch, Arend
    6. Frühwald, Michael C
    7. Hernáiz Driever, Pablo

    2016 - Forschungsinformationssystem des UKE
17. Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor

    1. Stahn, Verena
    2. Nagel, Inga
    3. Fischer-Huchzermeyer, Susan
    4. Oyen, Florian
    5. Schneppenheim, Reinhard
    6. Gesk, Stefan
    7. Bohring, Axel

    2016 - Forschungsinformationssystem des UKE
18. Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor

    1. Kerl, Kornelius
    2. Oyen, Florian
    3. Leuschner, Ivo
    4. Schneppenheim, Reinhard
    5. Nagel, Inga
    6. Siebert, Reiner
    7. Groll, Andreas H

    2015 - Forschungsinformationssystem des UKE
19. Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion

    1. Langer, Florian
    2. Obser, Tobias
    3. Oyen, Florian
    4. Spath, Brigitte
    5. Holstein, Katharina
    6. Greinacher, Andreas
    7. White, James G

    2014 - Forschungsinformationssystem des UKE
20. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

    1. Hasselblatt, Martin
    2. Nagel, Inga
    3. Oyen, Florian
    4. Bartelheim, Kerstin
    5. Russell, Robert B
    6. Schüller, Ulrich
    7. Junckerstorff, Reimar

    2014 - Forschungsinformationssystem des UKE