Results 181 to 190 of about 34,178 (233)

Neurofibromatosis type 1 with bladder neurofibroma followed by retroperitoneal malignant peripheral nerve sheath tumor: a case report. [PDF]

Urol Case Rep
Ishii N, Yamamoto H, Kobayashi T, Hamaya T, Kodama H, Fujita N, Okamoto T, Hirabayashi T, Hatakeyama S.   +8 more
europepmc   +1 more source

Type I neurofibromatosis with a solid pseudopapillary neoplasm of the pancreas: a case report and literature review. [PDF]

Discov Oncol
Yang Y, Zhang F.
europepmc   +1 more source

Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1. [PDF]

Neurol Genet
Tanase MG, Djilani L, Lamontagne R, Derbel R, Baril M, Roy V, Blais M, Buteau FA, Khuong HT, Gros-Louis F, Leclerc M, Dupre N.   +11 more
europepmc   +1 more source

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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

Neurogenetics, 2009
Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in which patients present with multiple bilateral spinal tumors but have ...
Lan Kluwe, Nadia Chuzhanova, Meena Upadhyaya   +2 more
exaly   +3 more sources

NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1)

Biochemical and Biophysical Research Communications, 1995
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by abnormalities in multiple tissues derived from the neural crest. We analysed 50 unrelated Japanese patients for NF1 mutations by using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis for exons 28 to 36.
N, Hatta, T, Horiuchi, I, Watanabe, Y, Kobayashi, Y, Shirakata, H, Ohtsuka, T, Minami, K, Ueda, T, Kokoroishi, S, Fujita   +9 more
openaire   +2 more sources

Phenotypic characterization of transgenic mice harboring Nf1^+/− or Nf1^−/− osteoclasts in otherwise Nf1^+/+ background

Journal of Cellular Biochemistry, 2012
AbstractSkeletal abnormalities in neurofibromatosis type 1 syndrome (NF1) are observed in ∼50% of patients. Here, we describe the phenotype of Nf1Ocl mouse model with Nf1‐deficient osteoclasts. Nf1Ocl mice with Nf1+/− or Nf1−/− osteoclasts in otherwise Nf1+/+ background were successfully generated by mating parental Nf1flox/flox and TRAP‐Cre mice ...
Alanne, MH, Siljamäki E, Peltonen, S, Väänänen K, Windle, JJ, Parada, LF, Määttä JA, Peltonen, J   +7 more
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Allelic Loss of the NF1 Gene in NF1-Associated Plexiform Neurofibromas

Cancer Genetics and Cytogenetics, 1999
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in about 30% of NF1-patients, often ...
L, Kluwe, R E, Friedrich, V F, Mautner
openaire   +2 more sources

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

American Journal of Medical Genetics Part A, 2007
To the Editor:Noonan syndrome (NS) and LEOPARD syndrome(LS) are clinically recognizable developmentaldisorders with overlapping features. NS patientstypically display short stature, facial dysmorphisms,low-set and posteriorly rotated ears, short andwebbedneck,thoracicandotherskeletalanomalies,cryptorchidism, and congenital heart defects (CHD)[Allanson,
SARKOZY A, SCHIRINZI A, LEPRI F, BOTTILLO I, DE LUCA A, PIZZUTI, Antonio, TARTAGLIA M, DIGILIO MC, DALLA PICCOLA, Bruno   +8 more
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Ras signaling and NF1

Current Opinion in Genetics & Development, 1995
The gene responsible for the hereditary disease neurofibromatosis type 1 (NF1) has been well characterized as a regulator of Ras protein activity. Many aspects of the disease seem to be caused by misregulation of Ras as a result of NF1 mutation. Other aspects, however, point at functions for the NF1 protein that have yet to be discovered.
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Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

Human Genetics, 2000
Neurofibromatosis type 1 (NFI) is a common autosomal dominant disorder characterised by café-au-lait spots, neurofibromas and iris hamartomas. Since the NF1 gene product neurofibromin contains a GAP-related domain involved in the down-regulation of p21(ras) oncogene activity, the NF1 gene has come to be regarded as a tumour-suppressor gene.
M P, Horan, D N, Cooper, M, Upadhyaya
openaire   +2 more sources