14 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. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

    1. Roehl, Angelika C
    2. Cooper, David N
    3. Kluwe, Lan
    4. Helbrich, Andreas
    5. Wimmer, Katharina
    6. Högel, Josef
    7. Mautner, Viktor Felix

    2010 - Forschungsinformationssystem des UKE
11. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

    1. Bengesser, Kathrin
    2. Cooper, David N
    3. Steinmann, Katharina
    4. Kluwe, Lan
    5. Chuzhanova, Nadia A
    6. Wimmer, Katharina
    7. Tatagiba, Marcos

    2010 - Forschungsinformationssystem des UKE
12. Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

    1. Steinmann, Katharina
    2. Kluwe, Lan
    3. Friedrich, Reinhard
    4. Mautner, Viktor Felix
    5. Cooper, David N
    6. Kehrer-Sawatzki, Hildegard

    2009 - Forschungsinformationssystem des UKE
13. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

    1. Steinmann, Katharina
    2. Kluwe, Lan
    3. Cooper, David N
    4. Brems, Hilde
    5. Thomas, De Raedt
    6. Legius, Eric
    7. Mautner, Viktor Felix

    2008 - Forschungsinformationssystem des UKE
14. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

    1. Steinmann, Katharina
    2. Cooper, David N
    3. Kluwe, Lan
    4. Chuzhanova, Nadia A
    5. Senger, Cornelia
    6. Serra, Eduard
    7. Lazaro, Conxi

    2007 - Forschungsinformationssystem des UKE