Results 181 to 190 of about 30,899,280 (234)

Personalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards. [PDF]

J Transl Med
Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Creus-Bachiller E, Uriarte-Arrazola I, Mazuelas H, Garraus M, Carrió M, Gel B, Rovira C, Alvarez M, Villanueva A, Castaneda A, Salvador H, Serra E, Lázaro C.   +15 more
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<i>NF2</i> lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in <i>NF2</i>-SWN iPSC-derived spheroid model. [PDF]

Mol Ther Nucleic Acids
Casals-Sendra G, Jarne-Sanz I, Catasús N, Boluda-Luis I, Quer A, Amilibia E, Plotkin SR, Lázaro C, Serra E, Blanco I, Castellanos E, NF-SWN Spanish Reference Center (CSUR on Phakomatosis).   +11 more
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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
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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
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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
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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
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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
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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
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