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Emerging genotype–phenotype relationships in patients with large NF1 deletions

Human Genetics, 2017-04, Vol.136 (4), p.349-376

2017

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Fabrication and characterization of electrospun iron oxide magnetic nanoparticles for their application in barrier textiles

Journal of magnetism and magnetic materials, 2022-11, Vol.562, p.169768, Article 169768

2022

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Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y

Muscle & nerve, 2021-05, Vol.63 (5), p.745-750

2021

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

Human Genetics, 2017-02, Vol.136 (2), p.129-148

2017

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Response to trametinib treatment in progressive pediatric low-grade glioma patients

Journal of neuro-oncology, 2020-09, Vol.149 (3), p.499-510

2020

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Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden

Journal of neuroimaging, 2024-01, Vol.34 (1), p.138-144

2024

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Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2

Annals of neurology, 2018-04, Vol.83 (4), p.854-857

2018

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

Human mutation, 2020-07, Vol.41 (7), p.1226-1231

2020

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Human Disease Ontology 2018 update: classification, content and workflow expansion

Nucleic acids research, 2019-01, Vol.47 (D1), p.D955-D962

2019

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Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis

Brain pathology (Zurich, Switzerland), 2020-03, Vol.30 (2), p.386-391

2020

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Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

Nucleic acids research, 2015-01, Vol.43 (Database issue), p.D1071-D1078

2015

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Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth

PLoS genetics, 2021-05, Vol.17 (5), p.e1009517-e1009517

2021

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Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.44-44, Article 44

2021

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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

Human genetics, 2019-01, Vol.138 (1), p.73-81

2019

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Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

Pediatric blood & cancer, 2021-10, Vol.68 (10), p.e29185-n/a

2021

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Telegram in der politischen Öffentlichkeit. Zur Einführung in das Themenheft

Medien & Kommunikationswissenschaft : M & K, 2023, Vol.71 (3-4), p.207

2023

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White matter is increased in the brains of adults with neurofibromatosis 1

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.115-115, Article 115

2022

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Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

Scientific reports, 2021-08, Vol.11 (1), p.16889-16889, Article 16889

2021

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Carbon black incorporated electrospun nanofibers for air filtration application

Journal of electrostatics, 2022-09, Vol.119, p.103738, Article 103738

2022

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MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools

Scientific reports, 2020-07, Vol.10 (1), p.11541-11541, Article 11541

2020

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Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target

Cancer Immunology, Immunotherapy, 2020-07, Vol.69 (7), p.1307-1313

2020

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Electrospun nanofibers of polyvinylidene fluoride incorporated with titanium nanotubes for purifying air with bacterial contamination

Environmental science and pollution research international, 2021-07, Vol.28 (28), p.37520-37533

2021

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The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1

Developmental medicine and child neurology, 2012-10, Vol.54 (10), p.892-897

2012

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Clinical characterization of children and adolescents with NF1 microdeletions

Child's nervous system, 2020-10, Vol.36 (10), p.2297-2310

2020

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Emerging genotype–phenotype relationships in patients with large NF1 deletions

Fabrication and characterization of electrospun iron oxide magnetic nanoparticles for their application in barrier textiles

Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y

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

Response to trametinib treatment in progressive pediatric low-grade glioma patients

Asymmetry of thalamic hypometabolism on FDG‐PET/CT in neurofibromatosis type 1: Association with peripheral tumor burden

Methylation-based classification of benign and malignant peripheral nerve sheath tumors

Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2

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

Human Disease Ontology 2018 update: classification, content and workflow expansion

Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

Telegram in der politischen Öffentlichkeit. Zur Einführung in das Themenheft

White matter is increased in the brains of adults with neurofibromatosis 1

Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

Carbon black incorporated electrospun nanofibers for air filtration application

MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools

Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target

Electrospun nanofibers of polyvinylidene fluoride incorporated with titanium nanotubes for purifying air with bacterial contamination

The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1

Clinical characterization of children and adolescents with NF1 microdeletions

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