Results 201 to 210 of about 124,379,666 (230)
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A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene
Human Genetics, 1994A new mutation, the first one close to the 5'-end of the neurofibromatosis type 1 (NF1) gene, was found when RNA preparations from various cell types of 15 NF1 patients were analysed by reverse transcription and subsequent multiplex polymerase chain reaction. This mutation removes the 84 bp of exon 3 precisely from the cDNA.
S, Hoffmeyer +4 more
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Studies of Neurofibromatosis-1 Modifier Genes
2004Abstract : 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 ...
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Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene
Human Genetics, 1996Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is located on chromosome 17q. The NF1 gene product, neurofibromin, displays partial homology to GTPase-activating protein (GAP).
M, Upadhyaya +5 more
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Transcriptional Regulation of the Neurofibromatosis Type 1 Gene
2003Abstract : The goal of this project was to understand the transcriptional regulation of the NFl gene. Specifically to further characterize TLF-mediated regulation and identify new factors that participate in the control of NFl regulation. In addition, an attempt was made to determine signaling pathways that affect NFl levels.
Robert Roeder +4 more
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Expression of the neurofibromatosis 1 (NF1) gene in reactive astrocytes in vitro
NeuroReport, 1995Neurofibromin, the product of the neurofibromatosis 1 (NF1) gene, is an important tumor suppressor protein expressed most abundantly in the nervous system. Within the central nervous system, neurofibromin has been localized to neurons and oligodendrocytes but not astrocytes. As individuals with NF1 are at an increased risk for optic pathway gliomas and
S J, Hewett, D W, Choi, D H, Gutmann
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Neurofibrosarcoma at Irradiation Site in a Patient With Neurofibromatosis and Wilms' Tumor
Ca-A Cancer Journal for Clinicians, 1981Jen-Yih Chu, Dennis M O'Connor
exaly
Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1
Lancet, The, 2003Rebecca M Reynolds, I W Campbell
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Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred
New England Journal of Medicine, 1988Wladimir Wertelecki +2 more
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Frequency of Choroidal Abnormalities in Neurofibromatosis Type 1
Lancet, The, 2000Tokuhiko Miki +2 more
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