 Summary Information
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Location: 17q11.2
Overview:
Neurofibromatosis Type 1 (aka. von Recklinghausen disease) is a highly penetrant autosomal dominant condition
caused by mutations of the NF1 gene. The condition predisposes to cancer and malignancy is the most common cause of death in people with NF.
A hetrogeneous range of NF1 mutations have been identified in NF patients and there is no clear relationship reported between specific NF1 mutations and the clinical variations of the disease.
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| Gene Database Entries for NF1
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OMIM
GeneCard (Weizmann Institute)
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Human Gene Mutation Database (Cardiff, UK)
Swiss-Prot
Locus Link
UniGene
GenAtlas
GDB
Nomenclature (search for NF1)
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| Other Related Resources
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International NF1 Genetic Mutation Analysis Consortium The consortium was established in 1992 and is managed by Dr Bruce Korf, Harvard Medical School, USA. The site is intended for scientists and a password is required to access the database.
 Neurofibromatosis Resources
NF2 (22q12.2)
Medline Search: NF1 (PubMed)
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- Medline Search: cancer AND gene AND NF1[TI] (PubMed)
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| NF1 and Neurofibromatosis Type 1
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Rasmussen SA, Friedman JM NF1 gene and neurofibromatosis 1 [Review] Am J Epidemiol 2000; 151(1):33-40 Related articles (PubMed)
Friedman JM Epidemiology of neurofibromatosis type 1.[Review] Am J Med Genet 1999; 89(1):1-6 Related articles (PubMed)
McGaughran JM, et al. A clinical study of type 1 neurofibromatosis in north west England. J Med Genet 1999; 36(3):197-203 Related articles (PubMed)
Medline Search: NF1 gene (PubMed)
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Medline Search: neurofibromatosis type 1 (PubMed)
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| Malignant Transformation in Neurofibromatosis 1
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Nielsen GP, et al. Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation. Am J Pathol. 1999; 155(6):1879-84 Related articles (PubMed)
Kourea HP, et al. Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas. Am J Pathol. 1999; 155(6):1855-60 Related articles (PubMed)
Wu R, et al. Germline mutations in NF1 patients with malignancies. Genes Chromosomes Cancer 1999; 26(4):376-80 Related articles (PubMed)
- Related Resources
- CDKN2A gene
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| Childhood Glioma and NF1
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Listernick R, et al. Intracranial gliomas in neurofibromatosis type 1. [Review] Am J Med Genet 1999; 89(1):38-44 Related articles (PubMed)
Cnossen MH, et al. Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. [Review] Pediatrics. 1997; 100(4):667-70 Related articles (PubMed)
Listernick R, et al. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr. 1994; 125(1):63-6 Related articles (PubMed)
Medline Search: NF1 AND childhood glioma (PubMed)
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Childhood Brain Tumours Genetics
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[Home] This page created: 09/10/1999 Last revised: 29/04/2003 © Copyright 1999-
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