Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
Upadhyaya M et al.
Human Mutation, 2006
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.
Upadhyaya M et al.
Human Mutation, 2004
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.
Castle B et al.
Journal of Medical Genetics, 2003
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
Upadhyaya M et al.
Human Genetics, 1997
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