Associated Papers
High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
Idrissova Z et al.
Genes, 2025
41300842 (PubMed )
Supplement: genes-16-01390-s001.zip › genes-3983285-supplementary.pdf
A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.
Kafshboran HR et al.
Global Medical Genetics, 2025
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2
Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.
Wu J et al.
Cancer Management and Research, 2021
Assay Complementarity to Overcome False-Negative Testing for Microsatellite Instability/Mismatch Repair Deficiency: A Pembrolizumab-Sensitive Intimal Sarcoma.
Henick BS et al.
Jco Precision Oncology, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
29673180 (PubMed )
Supplement: genes-09-00216-s001.zip › genes-280238-SI.docx
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Nemethova M et al.
Annals of Human Genetics, 2013
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