13 Einträge gefunden

1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
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. 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
10. 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
11. 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
12. 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
13. 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