16 Einträge gefunden

1. Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

   1. Kluwe, Lan
   2. Friedrich, Reinhard E
   3. Farschtschi, Said C
   4. Hagel, Christian
   5. Kehrer-Sawatzki, Hildegard
   6. Mautner, Victor-Felix

   2020 - Forschungsinformationssystem des UKE
2. Clinical characterization of children and adolescents with NF1 microdeletions

   1. Kehrer-Sawatzki, Hildegard
   2. Kluwe, Lan
   3. Salamon, Johannes
   4. Well, Lennart
   5. Farschtschi, Said
   6. Rosenbaum, Thorsten
   7. Mautner, Victor-Felix

   2020 - Forschungsinformationssystem des UKE
3. The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1

   1. Well, Lennart
   2. Jaeger, Anna
   3. Kehrer-Sawatzki, Hildegard
   4. Farschtschi, Said
   5. Avanesov, Maxim
   6. Sauer, Markus
   7. de Sousa, Manuela Tavares

   2020 - Forschungsinformationssystem des UKE
4. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

   1. Kehrer-Sawatzki, Hildegard
   2. Kluwe, Lan
   3. Friedrich, Reinhard E
   4. Summerer, Anna
   5. Schäfer, Eleonora
   6. Wahlländer, Ute
   7. Matthies, Cordula

   2018 - Forschungsinformationssystem des UKE
5. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

   1. Kehrer-Sawatzki, Hildegard
   2. Farschtschi, Said
   3. Mautner, Victor-Felix
   4. Cooper, David N

   2017 - Forschungsinformationssystem des UKE
6. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

   1. Hutter, Sonja
   2. Piro, Rosario M
   3. Waszak, Sebastian M
   4. Kehrer-Sawatzki, Hildegard
   5. Friedrich, Reinhard E
   6. Lassaletta, Alvaro
   7. Witt, Olaf

   2016 - Forschungsinformationssystem des UKE
7. Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis

   1. Farschtschi, Said
   2. Mautner, Victor-Felix
   3. Pham, Mirko
   4. Nguyen, Rosa
   5. Kehrer-Sawatzki, Hildegard
   6. Hutter, Sonja
   7. Friedrich, Reinhard E

   2016 - Forschungsinformationssystem des UKE
8. Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

   1. Spyra, Melanie
   2. Otto, Benjamin
   3. Schön, Gerhard
   4. Kehrer-Sawatzki, Hildegard
   5. Mautner, Victor-Felix

   2015 - Forschungsinformationssystem des UKE
9. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination

   1. Bengesser, Kathrin
   2. Vogt, Julia
   3. Mussotter, Tanja
   4. Mautner, Victor-Felix
   5. Messiaen, Ludwine
   6. Cooper, David N
   7. Kehrer-Sawatzki, Hildegard

   2014 - Forschungsinformationssystem des UKE
10. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

    1. Hutter, Sonja
    2. Piro, Rosario M
    3. Reuss, David E
    4. Hovestadt, Volker
    5. Sahm, Felix
    6. Farschtschi, Said
    7. Kehrer-Sawatzki, Hildegard

    2014 - Forschungsinformationssystem des UKE
11. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

    1. Roehl, Angelika C
    2. Mussotter, Tanja
    3. Cooper, David N
    4. Kluwe, Lan
    5. Wimmer, Katharina
    6. Högel, Josef
    7. Zetzmann, Marion

    2012 - Forschungsinformationssystem des UKE
12. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

    1. Mußotter, Tanja
    2. Kluwe, Lan
    3. Högel, Josef
    4. Nguyen, Rosa
    5. Cooper, David N
    6. Mautner, Viktor Felix
    7. Kehrer-Sawatzki, Hildegard

    2012 - Forschungsinformationssystem des UKE - frei zugänglich
13. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

    1. Kehrer-Sawatzki, Hildegard
    2. Vogt, Julia
    3. Mußotter, Tanja
    4. Kluwe, Lan
    5. Cooper, David N
    6. Mautner, Viktor Felix

    2012 - Forschungsinformationssystem des UKE
14. Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.

    1. Kluwe, Lan
    2. Nguyen, Rosa
    3. Vogt, Julia
    4. Bengesser, Kathrin
    5. Mussotter, Tanja
    6. Friedrich, Reinhard
    7. Jett, Kimberly

    2012 - Forschungsinformationssystem des UKE
15. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

    1. Vogt, Julia
    2. Kohlhase, Jürgen
    3. Morlot, Susanne
    4. Kluwe, Lan
    5. Mautner, Viktor Felix
    6. Cooper, David N
    7. Kehrer-Sawatzki, Hildegard

    2011 - Forschungsinformationssystem des UKE
16. Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

    1. Vogt, Julia
    2. Nguyen, Rosa
    3. Kluwe, Lan
    4. Schuhmann, Martin
    5. Roehl, Angelika C
    6. Mußotter, Tanja
    7. Cooper, David N

    2011 - Forschungsinformationssystem des UKE - frei zugänglich