Results 161 to 170 of about 24,332 (187)

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

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

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

Human Mutation, 1999
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by a marked variability in expression. A more severe phenotype is frequently observed in the group of patients carrying a large NF1 deletion. To study the extent of the microdeletion in these NF1 patients, we generated a partial physical map of the NF1 flanking region.
C, Lopez Correa, H, Brems, C, Lázaro, X, Estivill, M, Clementi, S, Mason, J L, Rutkowski, P, Marynen, E, Legius   +8 more
openaire   +2 more sources

Expression of the neurofibromatosis 1 (NF1) gene during growth arrest

NeuroReport, 1996
The neurofibromatosis 1 (NF1) gene product, neurofibromin, is a tumor suppressor gene product capable of inhibiting the growth of cells in culture. If neurofibromin suppresses cell growth by arresting cells in G0 or G1, its expression might be regulated in a cell cycle-dependent fashion. In this study, we demonstrate that RAT-1A fibroblasts arrested in
K K, Norton, D K, Mahadeo, R T, Geist, D H, Gutmann   +3 more
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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
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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

Studies of Neurofibromatosis-1 Modifier Genes

2004
Abstract : This project aims to collect NF1 patient DNAs required to identify neurofibroma burden modifier genes, to perform an allele association study for three classes of potential modifiers, and to evaluate more global approaches. Over four years we aim to collect 1200 DNAs from adult NF1 patients that represent the top and bottom 20% of dermal ...
openaire   +1 more source

[From gene to disease; neurofibromatosis type 1].

Nederlands tijdschrift voor geneeskunde, 2001
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families.
A, de Goede-Bolder, M H, Cnossen, D, Dooijes, A M, van den Ouweland, M F, Niermeijer   +4 more
openaire   +1 more source