Neurofibromatosis type 1: Pathology, clinical features and molecular genetics. Brain Pathol. 1995; 5: 153 - 62.Von Deimling, A., Krone, W., and Menon, A.G. (1995). Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol. 5:153-162...
Refers to Neurofibromatosis Type 1 Encyclopedia of Neuroscience, 2009, Pages 401-407 A. Theos, B.R. KorfView PDF Abstract Neurofibromatosis 1 (NF1) is one of the most common genetic disorders to affect the nervous system, with an estimated incidence of one in 3500 individuals worldwide. NF1...
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haplo...
Three new neurofibromatosis type 1 (NF1) mutations have been detected and characterized. Pulsed-field gel and Southern blot analyses reveal the mutations t... D Viskochil,AM Buchberg,G Xu,... - 《Cell》 被引量: 1778发表: 1990年 The GAP-related domain of the neurofibromatosis type 1 gene...
9]. To our knowledge, epilepsy in the setting of underlying hippocampal sclerosis with associatedfocal cortical dysplasiahas been described in only one priorneurofibromatosis type Iseries[3]. In light of the rarity of this finding, we report two such cases and review their clinicopathologic features...
Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, caf茅-au-lait spots (CLS), iris ... K Anja,AM Reza,S Markus,... - 《Human Molecular Genetics》 被引量: 260发表: 1998年 Epidermal growth factor receptor expression in...
The clinical features of neurofibromatosis type 1 (NF1) or peripheral neurofibromatosis, the most common form of the disease, were reported in several family members by German pathologist Virchow in 1847, but it was his student von Recklinghausen who 35
These are designated neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Neurofibromatosis type 1 (von Recklinghausen's neurofibromatosis, peripheral neurofibromatosis) Reports detailing probable cases of neurofibromatosis have appeared since the 16th century.3 The first review of the ...
Selective Disactivation of Neurofibromin GAP Activity in Neurofibromatosis Type 1 (NF1) Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, caf茅-au-lait spots (CLS), iris ... K Anja,AM Reza,S Markus,... - 《Human Mol...
MPNST (or neurofibrosarcoma) is a type of sarcoma that is thought to be derived from Schwann cells. It accounts for 3% to 10% of all sarcomas and is almost always associated with NF1. The approximate prevalence in patients with NF1 is 0.1% and the cumulative life-long risk is 8% to ...