An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)
G. F. Xu +3 more
openaire +3 more sources
Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes. [PDF]
Lv S, Yang H, Cui Y, Yang H.
europepmc +1 more source
Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas. [PDF]
Li H +20 more
europepmc +1 more source
GNAQ positive hepatic vascular tumors in a patient with neurofibromatosis type 1: A case report. [PDF]
Cheng A +8 more
europepmc +1 more source
HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2. [PDF]
Sun S, Hu C, Yu L, Li D, Guo C, Liu S.
europepmc +1 more source
Neurofibromin 1 (<i>NF1</i>) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico. [PDF]
Blazyte A +12 more
europepmc +1 more source
Emerging Molecular Insights and Therapeutic Directions in Neurofibromatosis Type 1 and NF2-Related Schwannomatosis. [PDF]
Park S +4 more
europepmc +1 more source
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. [PDF]
Schatz KS +7 more
europepmc +1 more source
Malignant Peripheral Nerve Sheath Tumor Arising After Superficial Neurofibroma Excision: A Rare Sporadic Case in a Patient Without Neurofibromatosis Type 1. [PDF]
Hayama MW +4 more
europepmc +1 more source

