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Neurofibromatosis 1

Known as: Neurofibromatosis 1 [Disease/Finding], Neurofibromatoses, Peripheral, Recklinghausens Disease of Nerve 
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system… 
National Institutes of Health

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Related topics

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Brain NeoplasmsCafe-au-lait macules with pulmonary stenosisDysembryoplastic neuroepithelial tumorEpilepsy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.
Neurofibromatosis type I (NF1) is a congenital disorder resulting from loss-of-function of the tumor suppressor gene, NF1, a… 
Highly Cited
2003
Highly Cited
2003
Neurofibromatosis Type I Tumor Suppressor Neurofibromin Regulates Neuronal Differentiation via Its GTPase-activating Protein Function toward Ras*
Neurofibromin, the neurofibromatosis type 1 (NF1) gene product, contains a central domain homologous to a family of proteins… 
Highly Cited
1998
Highly Cited
1998
Sympathetic Neuron Survival and Proliferation Are Prolonged by Loss of p53 and Neurofibromin
The proteins encoded by the p53 and Nf1 tumor suppressor genes are involved in cell signaling and regulation of proliferation… 
Highly Cited
1996
Highly Cited
1996
Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia.
I read with great interest the editorial comments by Riccardi1on the possible research implications of the article recently… 
Highly Cited
1995
Highly Cited
1995
Retroviral integration at the Evi-2 locus in BXH-2 myeloid leukemia cell lines disrupts Nf1 expression without changes in steady-state Ras-GTP levels
Approximately 15% of BXH-2 myeloid leukemias harbor proviral integrations at the Evi-2 common viral integration site. Evi-2 is… 
Highly Cited
1995
Highly Cited
1995
Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.
The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is… 
Highly Cited
1995
Highly Cited
1995
NEUROPSYCHOLOGICAL FUNCTION AND MRI ABNORMALITIES IN NEUROFIBROMATOSIS TYPE 1
This study investigated the relationship between MRI abnormalities and cognitive function in neurofibromatosis type 1. 40… 
Highly Cited
1991
Highly Cited
1991
The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin.
von Recklinghausen neurofibromatosis (NF1) is the most common hereditary syndrome predisposing to neoplasia. NF1 is an autosomal… 
Review
1983
Review
1983
Electron microscopy in the diagnosis of malignant schwannomas a report of six cases
The diagnosis of malignant schwannoma may be difficult or impossible by light microscopy alone, if the neoplasm is poorly… 
1976
1976
Cerebellopontine angle tumours, other than acoustic neuromas. A report on 34 cases. A presentation of 7 bilateral acoustic neuromas.
The symptoms, preoperative diagnostic results and histological findings in 34 cerebellopontine angle tumour cases, other than… 
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