17 Einträge gefunden

1. Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey

   1. Friedrich, Reinhard
   2. Gosau, Martin
   3. Luebke, Andreas M.
   4. Hagel, Christian
   5. Kohlrusch, Felix K
   6. Hahn, Michael
   7. von Kroge, Simon

   2022 - Forschungsinformationssystem des UKE
2. Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation

   1. Friedrich, Reinhard E
   2. Zenker, Martin

   2022 - Forschungsinformationssystem des UKE
3. KRAS Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance

   1. Friedrich, Reinhard E
   2. Wüsthoff, Falk
   3. Luebke, Andreas M
   4. Kohlrusch, Felix K
   5. Wieland, Ilse
   6. Zenker, Martin
   7. Gosau, Martin

   2021 - Forschungsinformationssystem des UKE
4. Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

   1. Friedrich, Reinhard E
   2. Zustin, Jozef
   3. Luebke, Andreas M
   4. Rosenbaum, Thorsten
   5. Gosau, Martin
   6. Hagel, Christian
   7. Kohlrusch, Felix K

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

   1. Friedrich, Reinhard E
   2. Hagel, Christian
   3. Kohlrusch, Felix K
   4. Schanze, Ina
   5. Wieland, Ilse
   6. Zenker, Martin

   2020 - Forschungsinformationssystem des UKE
6. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

   1. Meyer Zum Büschenfelde, Uta
   2. Brandenstein, Laura Isabel
   3. von Elsner, Leonie
   4. Flato, Kristina
   5. Holling, Tess
   6. Zenker, Martin
   7. Rosenberger, Georg

   2018 - Forschungsinformationssystem des UKE - frei zugänglich
7. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

   1. Harms, Frederike L
   2. Alawi, Malik
   3. Amor, David J
   4. Tan, Tiong Y
   5. Cuturilo, Goran
   6. Lissewski, Christina
   7. Brinkmann, Julia

   2018 - Forschungsinformationssystem des UKE
8. Response to Calgani et al

   1. Zenker, Martin
   2. Kutsche, Kerstin

   2016 - Forschungsinformationssystem des UKE
9. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

   1. Kortüm, Fanny
   2. Abdollahpour, Hengameh
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Seemanova, Eva
   6. Tinschert, Sigrid
   7. Zenker, Martin

   2014 - Forschungsinformationssystem des UKE
10. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

    1. Lorenz, Sybille
    2. Lissewski, Christina
    3. Simsek-Kiper, Pelin O
    4. Alanay, Yasemin
    5. Boduroglu, Koray
    6. Zenker, Martin
    7. Rosenberger, Georg

    2013 - Forschungsinformationssystem des UKE
11. Inactivation of HNSCC cells by 90Y-labeled cetuximab strictly depends on the number of induced DNA double-strand breaks.

    1. Saker, Jarob
    2. Kriegs, Malte
    3. Zenker, Martin
    4. Heldt, Jan-Martin
    5. Eke, Iris
    6. Pietzsch, Hans-Jürgen
    7. Grénman, Reidar

    2013 - Forschungsinformationssystem des UKE
12. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1

    1. Mainberger, Florian
    2. Jung, Nikolai H
    3. Zenker, Martin
    4. Wahlländer, Ute
    5. Freudenberg, Leonie
    6. Langer, Susanne
    7. Berweck, Steffen

    2013 - Forschungsinformationssystem des UKE - frei zugänglich
13. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

    1. Lehnhardt, Anja
    2. Lama, Albert
    3. Amann, Kerstin
    4. Matejas, Verena
    5. Zenker, Martin
    6. Kemper, Markus J.

    2012 - Forschungsinformationssystem des UKE
14. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    1. Lorenz, Sybille
    2. Petersen, Christine
    3. Kordaß, Ulrike
    4. Seidel, Heide
    5. Zenker, Martin
    6. Kutsche, Kerstin

    2012 - Forschungsinformationssystem des UKE
15. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

    1. Fabretto, Antonella
    2. Kutsche, Kerstin
    3. Harmsen, May-Britt
    4. Demarini, Sergio
    5. Gasparini, Paolo
    6. Fertz, Maria Cristina
    7. Zenker, Martin

    2010 - Forschungsinformationssystem des UKE
16. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    1. Zenker, Martin
    2. Horn, Denise
    3. Wieczorek, Dagmar
    4. Allanson, Judith
    5. Pauli, Silke
    6. van der Burgt, Ineke
    7. Doerr, Helmuth-Guenther

    2007 - Forschungsinformationssystem des UKE
17. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

    1. Zenker, Martin
    2. Lehmann, Katarina
    3. Schulz, Anna Leana
    4. Barth, Helmut
    5. Hansmann, Dagmar
    6. Koenig, Rainer
    7. Korinthenberg, Rudolf

    2007 - Forschungsinformationssystem des UKE