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 …
Abstract Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome related to germline aberrations of NF1, a tumour suppressor gene. The gene …
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 …
Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1 …
Retroviruses induce myeloid leukaemia in BXH-2 mice by the insertional mutation of cellular proto-oncogenes or tumour suppressor genes. Disease genes can thus be identified by …
Y Li, P O'connell, HH Breidenbach, R Cawthon… - Genomics, 1995 - Elsevier
Neurofibromatosis 1 maps to chromosome band 17q11. 2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the …
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 …
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 …