Molecular genetics of neurofibromatosis type 1 (NF1).

MH Shen, PS Harper, M Upadhyaya - Journal of medical genetics, 1996 - jmg.bmj.com
Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral
neurofibromatosis, is a common autosomal dominant disorder characterised by multiple …

Malignant peripheral nerve sheath tumors: from epigenome to bedside

J Korfhage, DB Lombard - Molecular cancer research, 2019 - AACR
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 …

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

MR Wallace, DA Marchuk, LB Andersen, R Letcher… - Science, 1990 - science.org
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder
characterized by abnormalities in multiple tissues derived from the neural crest. No reliable …

The neurofibromatosis type 1 gene encodes a protein related to GAP

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 …

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

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 …

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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 …

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

DA Marchuk, AM Saulino, R Tavakkol, M Swaroop… - Genomics, 1991 - Elsevier
Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common
autosomal dominant disorder characterized by abnormalities in multiple tissues derived from …

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

E Legius, DA Marchuk, FS Collins, TW Glover - Nature genetics, 1993 - nature.com
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 …

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

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 …

The neurofibromatosis type 1 gene and its protein product, neurofibromin

DH Gutmann, FS Collins - Neuron, 1993 - Elsevier
Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects
approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal …