Results 181 to 190 of about 31,197,545 (235)

Benign and Malignant Peripheral Nerve Sheath Tumors of the Oral Cavity: Two-Case Series Emphasizing Diagnostic Challenges. [PDF]

Diagnostics (Basel)
Aleksiev E, Kosturkov D, Dikov T, Ivanova V, Mihaylova Z.   +4 more
europepmc   +1 more source

Neurofibromin in bone disease: Mechanisms and therapeutic implications (Review). [PDF]

Int J Mol Med
Zhang S, Yang G.
europepmc   +1 more source

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease. [PDF]

Neurol Genet
Menih M, Hojs Fabjan T, Maver A, Peterlin B.   +3 more
europepmc   +1 more source

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]

J Med Genet
Damen L, Broekema MF, Vogel MJ, Korpershoek E, Koudijs MJ, Boersma BR, Dreijerink KM, Zondervan PJ, Dubbink HJ, van Hest LP.   +9 more
europepmc   +1 more source

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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
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
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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
openaire   +2 more sources