12 Einträge gefunden

1. 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
2. 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
3. Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)

   1. Kordes, Uwe
   2. Bartelheim, Kerstin
   3. Modena, Piergiorgio
   4. Massimino, Maura
   5. Biassoni, Veronica
   6. Reinhard, Harald
   7. Hasselblatt, Martin

   2014 - Forschungsinformationssystem des UKE
4. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.

   1. Hasselblatt, Martin
   2. Isken, Sarah
   3. Linge, Anna
   4. Eikmeier, Kristin
   5. Jeibmann, Astrid
   6. Oyen, Florian
   7. Nagel, Inga

   2013 - Forschungsinformationssystem des UKE
5. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, Josef
   7. Steuerwald, Ulrike

   2010 - Forschungsinformationssystem des UKE
6. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, J
   7. Steuerwald, U

   2010 - Forschungsinformationssystem des UKE
7. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

   1. Schneppenheim, Reinhard
   2. Frühwald, Michael C
   3. Gesk, Stefan
   4. Hasselblatt, Martin
   5. Jeibmann, Astrid
   6. Kordes, Uwe
   7. Kreuz, Markus

   2010 - Forschungsinformationssystem des UKE
8. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.

   1. Hasselblatt, Martin
   2. Oyen, Florian
   3. Gesk, Stefan
   4. Kordes, Uwe
   5. Brigitte, Wrede
   6. Bergmann, Markus
   7. Schmid, Hansjörg

   2009 - Forschungsinformationssystem des UKE
9. Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.

   1. Bug, Stefanie
   2. Dürig, Jan
   3. Oyen, Florian
   4. Klein-Hitpass, Ludger
   5. Martin-Subero, Jose I
   6. Harder, Lana
   7. Baudis, Michael

   2009 - Forschungsinformationssystem des UKE
10. ITI with high-dose FIX and combined immunosuppressive therapy in a patient with severe haemophilia B and inhibitor.

    1. Beutel, Karin
    2. Hauch, H
    3. Rischewski, J
    4. Kordes, Uwe
    5. Schneppenheim, J
    6. Schneppenheim, Reinhard

    2009 - Forschungsinformationssystem des UKE
11. Successful donor-lymphocyte infusion for extreme immune-hemolysis following unrelated BMT in a patient with X-linked chronic granulomatous disease and McLeod phenotype.

    1. Kordes, Uwe
    2. Binder, Thomas
    3. Eiermann, Thomas
    4. Hassenpflug-Diedrich, B
    5. Hassan, M A
    6. Beutel, Karin
    7. Nagy, M

    2008 - Forschungsinformationssystem des UKE
12. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome.

    1. Frühwald, Michael C
    2. Hasselblatt, Martin
    3. Wirth, Sebastian
    4. Köhler, Gabriele
    5. Schneppenheim, Reinhard
    6. Subero, Jose Igancio Martin
    7. Siebert, Reiner

    2006 - Forschungsinformationssystem des UKE