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22 Einträge gefunden

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
2020 - Forschungsinformationssystem des UKE
Clinical characterization of children and adolescents with NF1 microdeletions
2020 - Forschungsinformationssystem des UKE
The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1
2020 - Forschungsinformationssystem des UKE
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
Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis
2016 - Forschungsinformationssystem des UKE
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients
2016 - Forschungsinformationssystem des UKE
Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing
2015 - 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
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants
2014 - 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
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
2012 - Forschungsinformationssystem des UKE - frei zugänglich
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
2012 - Forschungsinformationssystem des UKE
Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
2012 - Forschungsinformationssystem des UKE
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
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
Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
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

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

Clinical characterization of children and adolescents with NF1 microdeletions

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1

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

Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

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

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

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

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

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

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.

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.

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

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

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.