Results 201 to 210 of about 108,120,995 (240)

The Neurofibromatosis Type 1 Gene

Annual Review of Neuroscience, 1993
Sometimes referred to as peripheral neurofibromatosis or von Reck­ linghausen disease, neurofibromatosis 1 (NFl) is one of the most common medical conditions inherited in human populations. NFl , inherited as an autosomal dominant, affects approximately 1 in 3500 individuals world­ wide with no apparent ethnic predilection.
D, Viskochil, R, White, R, Cawthon
openaire   +3 more sources

Identification and characterization of the gene for neurofibromatosis type 1

Current Opinion in Neurobiology, 1991
Elucidation of the partial genomic structure and DNA sequence of the gene that is altered in neurofibromatosis type 1, and the discovery of clues to its function, have opened new opportunities not only for understanding this particular disease process but also for clarifying signal pathways involved in cellular growth and differentiation.
R, White, D, Viskochil, P, O'Connell
openaire   +4 more sources

Neurofibromatosis type 1 gene mutations in neuroblastoma

Nature Genetics, 1993
The introduction of human chromosome 17 suppresses the tumourigenicity of a neuroblastoma cell line in the absence of any effects on in vitro growth and the neurofibromatosis type 1 (NF1) gene may be responsible. Here we report that 4 out of 10 human neuroblastoma lines express little or no neurofibromin and that two of these lines show evidence of NF1
I, The, A E, Murthy, G E, Hannigan, L B, Jacoby, A G, Menon, J F, Gusella, A, Bernards   +6 more
openaire   +2 more sources

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?

Human Mutation, 1997
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical features or severity, were screened with intragenic ...
Cnossen, Marjon, van der Est, MN, Breuning, MH, van Asperen, CJ, Breslau-Siderius, EJ, van der Ploeg, Ans, Bolder, A, van den Ouweland, Ans, Halley, Dicky, Niermeijer, Martinus   +9 more
openaire   +3 more sources

Valuing gene testing in children with possible neurofibromatosis 1

Clinical Genetics, 2011
Tsang E, Birch P, Friedman JM. Valuing gene testing in children with possible neurofibromatosis 1.With the growing number of clinical guidelines recommending genetics tests in routine clinical care, the value of these tests should be evaluated. We examined the economic value of offering genetic testing to children with possible neurofibromatosis 1 (NF1)
E, Tsang, P, Birch, J M, Friedman
openaire   +2 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

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Human Molecular Genetics, 1995
Neurofibromatosis 1 (NF1) is a common genetic disorder characterized by abnormalities of tissues derived from the neural crest. To define germ-line mutations in the NF1 gene, we studied 20 patients with familial or sporadic cases of NF1 diagnosed clinically and one patient with only café-au-lait spots and no other diagnostic criteria.
R A, Heim, L N, Kam-Morgan, C G, Binnie, D D, Corns, M C, Cayouette, R A, Farber, A S, Aylsworth, L M, Silverman, M C, Luce   +8 more
openaire   +2 more sources

Somatic mutations in the neurofibromatosis 1 gene in human tumors

Cell, 1992
The neurofibromatosis 1 (NF1) gene product, neurofibromin, contains a GTPase-activating protein (GAP)-related domain, or NF1 GRD, that is able to down-regulate p21ras by stimulating its intrinsic GTPase. Since p21ras.GTP is a major regulator of growth and differentiation, mutant neurofibromins resulting from somatic mutations in the NF1 gene might ...
Ying Li, Gideon Bollag, Robin Clark, Jeff Stevens, Leah Conroy, Dan Fults, Ken Ward, Eitan Friedman, Wade Samowitz, Margaret Robertson, Paige Bradley, Frank McCormick, Ray White, Richard Cawthon   +13 more
openaire   +2 more sources

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

Journal of Clinical Neuroscience, 2014
Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations.
Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, RUGGIERI, MARTINO   +7 more
openaire   +2 more sources

Analysis of an alternatively spliced exon of the neurofibromatosis type 1 gene in cultured melanocytes from patients with neurofibromatosis 1

Archives of Dermatological Research, 1995
Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, café-aulait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocytes from café-aulait macules (CALM), as an example of ...
I, Eisenbarth, S, Hoffmeyer, D, Kaufmann, G, Assum, W, Krone   +4 more
openaire   +2 more sources