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17 Einträge gefunden

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas
2018 - Forschungsinformationssystem des UKE
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis
2017 - Forschungsinformationssystem des UKE
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
2014 - Forschungsinformationssystem des UKE
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.
2012 - Forschungsinformationssystem des UKE
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.
2012 - Forschungsinformationssystem des UKE
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
2012 - Forschungsinformationssystem des UKE
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
2012 - Forschungsinformationssystem des UKE
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.
2012 - Forschungsinformationssystem des UKE
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
2012 - Forschungsinformationssystem des UKE - frei zugänglich
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
2011 - Forschungsinformationssystem des UKE
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.
2011 - Forschungsinformationssystem des UKE - frei zugänglich
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
2010 - Forschungsinformationssystem des UKE
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
2010 - Forschungsinformationssystem des UKE
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
2010 - Forschungsinformationssystem des UKE
Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
2009 - Forschungsinformationssystem des UKE
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.
2008 - Forschungsinformationssystem des UKE
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.
2007 - Forschungsinformationssystem des UKE

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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

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

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

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

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

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

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

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

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.