Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas typically developing in the context of neurofibromatosis type 1 (NF-1). With the exception of surgical …
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable …
G Xu, P O'Connell, D Viskochil, R Cawthon… - Cell, 1990 - cell.com
Summary cDNA walking and sequencing have extended the open reading frame for the neurofibromatosis type 1 gene (NFT). The new sequence now predicts 2485 amino acids of …
D Viskochil, AM Buchberg, G Xu, RM Cawthon… - Cell, 1990 - cell.com
Three new neurofibromatosis type 1 (NFl) mutations have been detected and characterized. Pulsed-field gel and Southern blot analyses reveal the mutations lo be deletions of 190, 40 …
RM Cawthon, R Weiss, G Xu, D Viskochil, M Culver… - Cell, 1990 - cell.com
Overlapping cDNA clones from the translocation breakpoint region (TBR) gene, recently discovered at the neurofibromatosis type 1 locus and found to be interrupted by deletions …
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from …
Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no …
LM Kayes, W Burke, VM Riccardi… - American journal of …, 1994 - ncbi.nlm.nih.gov
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by marked variation in clinical severity. To investigate the contribution to variability by genes …
Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal …