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MeSH Review

Neurofibromatosis 1

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Disease relevance of Neurofibromatosis 1


High impact information on Neurofibromatosis 1


Chemical compound and disease context of Neurofibromatosis 1


Biological context of Neurofibromatosis 1


Anatomical context of Neurofibromatosis 1


Gene context of Neurofibromatosis 1


Analytical, diagnostic and therapeutic context of Neurofibromatosis 1


  1. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Colman, S.D., Williams, C.A., Wallace, M.R. Nat. Genet. (1995) [Pubmed]
  2. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Tassabehji, M., Strachan, T., Sharland, M., Colley, A., Donnai, D., Harris, R., Thakker, N. Am. J. Hum. Genet. (1993) [Pubmed]
  3. Neurofibromatosis type 2 appears to be a genetically homogeneous disease. Narod, S.A., Parry, D.M., Parboosingh, J., Lenoir, G.M., Ruttledge, M., Fischer, G., Eldridge, R., Martuza, R.L., Frontali, M., Haines, J. Am. J. Hum. Genet. (1992) [Pubmed]
  4. April 2002: 35-year-old healthy man with enlarging right parotid mass. Malcolm, E.K., Lopes, M.B. Brain Pathol. (2002) [Pubmed]
  5. Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors. Watson, M.A., Perry, A., Tihan, T., Prayson, R.A., Guha, A., Bridge, J., Ferner, R., Gutmann, D.H. Brain Pathol. (2004) [Pubmed]
  6. Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. Dahia, P.L., Toledo, S.P., Mulligan, L.M., Maher, E.R., Grossman, A.B., Eng, C. Cancer Res. (1997) [Pubmed]
  7. Acute promyelocytic leukemia after treatment of malignant glioma in a patient with von Recklinghausen's disease: case report and review of the literature. Wiernik, P.H., Muse, I.M. Leukemia (1996) [Pubmed]
  8. Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report. Perilongo, G., Felix, C.A., Meadows, A.T., Nowell, P., Biegel, J., Lange, B.J. Leukemia (1993) [Pubmed]
  9. Growth hormone in von Recklinghausen's disease: reckless or recommended? Saenger, P. J. Pediatr. (1998) [Pubmed]
  10. Expression of angiogenic factors in neurofibromas. Kawachi, Y., Xu, X., Ichikawa, E., Imakado, S., Otsuka, F. Exp. Dermatol. (2003) [Pubmed]
  11. Malignant peripheral nerve sheath tumours: high Ki67 labelling index is the significant prognostic indicator. Watanabe, T., Oda, Y., Tamiya, S., Kinukawa, N., Masuda, K., Tsuneyoshi, M. Histopathology (2001) [Pubmed]
  12. Letter: Muscle relaxant requirements in patients with von Recklinghausen's disease. Yamashita, M., Matsuki, A. British journal of anaesthesia. (1975) [Pubmed]
  13. Hypersensitivity to pancuronium in a patient with von Recklinghausen's disease. Nagao, H., Yamashita, M., Shinozaki, Y., Oyama, T. British journal of anaesthesia. (1983) [Pubmed]
  14. Galactose metabolism and reproductive history in women with type 1 neurofibromatosis. Cramer, D.W., Korf, B.R., Fortier, L.J. Am. J. Med. Genet. (1991) [Pubmed]
  15. The response of a patient with von Recklinghausen's disease to succinylcholine and atracurium. Naguib, M., Al-Rajeh, S.M., Abdulatif, M., Ababtin, W.A. Middle East journal of anesthesiology. (1988) [Pubmed]
  16. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Riccardi, V.M. Am. J. Hum. Genet. (1993) [Pubmed]
  17. Characterization of Ras effector mutant interactions with the NF1-GAP related domain. Marshall, M.S., Hettich, L.A. Oncogene (1993) [Pubmed]
  18. Clitoromegaly in neurofibromatosis. Sutphen, R., Galán-Goméz, E., Kousseff, B.G. Am. J. Med. Genet. (1995) [Pubmed]
  19. The effect of extracellular calcium concentration on calcium-mediated cell signaling in NF1 tumor suppressor-deficient keratinocytes. Korkiamäki, T., Ylä-Outinen, H., Leinonen, P., Koivunen, J., Peltonen, J. Arch. Dermatol. Res. (2005) [Pubmed]
  20. Cytogenetic analysis of a malignant triton tumor and a malignant peripheral nerve sheath tumor and a review of the literature. McComb, E.N., McComb, R.D., DeBoer, J.M., Neff, J.R., Bridge, J.A. Cancer Genet. Cytogenet. (1996) [Pubmed]
  21. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. Shannon, K.M., O'Connell, P., Martin, G.A., Paderanga, D., Olson, K., Dinndorf, P., McCormick, F. N. Engl. J. Med. (1994) [Pubmed]
  22. Altered calcium-mediated cell signaling in keratinocytes cultured from patients with neurofibromatosis type 1. Korkiamäki, T., Ylä-Outinen, H., Koivunen, J., Karvonen, S.L., Peltonen, J. Am. J. Pathol. (2002) [Pubmed]
  23. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Marchuk, D.A., Saulino, A.M., Tavakkol, R., Swaroop, M., Wallace, M.R., Andersen, L.B., Mitchell, A.L., Gutmann, D.H., Boguski, M., Collins, F.S. Genomics (1991) [Pubmed]
  24. Expression of CD117 in a malignant peripheral nerve sheath tumour arising in a patient with type 1 neurofibromatosis. Leroy, X., Aubert, S., Leteurtre, E., Gosselin, B. Histopathology (2003) [Pubmed]
  25. Malignant schwannoma in a case of type 1 neurofibromatosis with decreased immunoreactivity of smooth muscle alpha-actin in tumor vessels. Inoue, M., Nakayama, J., Urabe, A., Taniguchi, S., Kuroki, R., Hori, Y. J. Dermatol. Sci. (1994) [Pubmed]
  26. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. Eng, C., Crossey, P.A., Mulligan, L.M., Healey, C.S., Houghton, C., Prowse, A., Chew, S.L., Dahia, P.L., O'Riordan, J.L., Toledo, S.P. J. Med. Genet. (1995) [Pubmed]
  27. BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. Ceccaroni, M., Genuardi, M., Legge, F., Lucci-Cordisco, E., Carrara, S., D'Amico, F., Greggi, S., Scambia, G. Gynecol. Oncol. (2002) [Pubmed]
  28. Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. Malminen, M., Peltonen, S., Koivunen, J., Peltonen, J. BMC Dermatol. (2002) [Pubmed]
  29. GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. Bahuau, M., Pelet, A., Vidaud, D., Lamireau, T., LeBail, B., Munnich, A., Vidaud, M., Lyonnet, S., Lacombe, D. J. Med. Genet. (2001) [Pubmed]
  30. Peripheral nerve tumors: management strategies and molecular insights. Bhattacharyya, A.K., Perrin, R., Guha, A. J. Neurooncol. (2004) [Pubmed]
  31. Differences in a K current in Schwann cells from normal and neurofibromatosis-infected damselfish. Fieber, L.A., Schmale, M.C. Glia (1994) [Pubmed]
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