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Save your search. Customize your interests. Create a personal account or sign in to:. Privacy Policy. Mortality in neurofibromatosis 1: an analysis using U.
Dubousset J. Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities. Osteoporos Int. Antonio JR. Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Neurofibromatosis type 1 and sporadic optic gliomas.
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1. J Clin Pathol. Ozerdem U. Targeting Neovascular Pericytes in Neurofibromatosis type 1. Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body.
Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t 8;21 fusion protein. Mol Cell Biol. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q Muniz MP.
Association between benign and malignant peripheral nerve sheath tumors in NF1. Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of American cases. Am J Med Genet A. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol.
Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR. Mol Cancer. Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1. Neurofibromatosis type 1: clinical and radiological aspects. Rev Imagem. Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment. J Dermatol.
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Invest Ophthalmol Vis Sci. Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res. J Am Acad Dermatol. Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRD-dependent manner. Mol Cancer Ther. Motor Proficiency in Children with Neurofibromatosis Type 1.
Pediatr Phys Ther. MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med. Mortality associated with neurofibromatosis 1: a cohort study of patients in in France. Orphanet J Rare Dis. At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study. Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol Med. Microarray-based copy number analysis of neurofibromatosis type-1 NF1 -associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.
Hum Mutat. Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation. Chaudhary N, Borker A. Metronomic therapy for malignant peripheral nerve sheath tumor in neurofibromatosis type 1.
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J Mol Diagn. Identification and characterization of the neurofibromatosis type 1 protein product. The protein product of neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Scwann cells, and oligodendrocytes. J Neurosci. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p Proteins regulating Ras and its relatives.
Neurofibromin: a general Outlook. Clin Genet. NF1 Gene and neurofibromatosis 1. Am J Epidemiol. Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Ferner RE. Neurofibromatosis 1. Eur J Hum Genet. Neurofibromatosis type 1 revisited. Arch Intern Med. Pathophyology of neurofibromatosis. Dermatological insights into heterogeneity and pathogenesis. Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Aloi F, Massobrio R. Solitary plexiform neurofibroma.
Lisch nodules in neurofibromatosis type 1. Gordon RRS. Measurement of cranial capacity in children. Br J Radiol. Macrocranium and macroencephaly in neurofibromatosis.
Skeletal Radiol. Lateral intra thoracic meningocele. Skull defect involving the lambdoid suture in neurofibromatosis.
Surg Neurol. Periosteum and abnormal bone in neurofibromatosis. Korf BR. Malignancy in neurofibromatosis type 1. Neurofibromatosis type 1: more frequent and severe then usually thought. Rev Assoc Med Bras. Niimura M. The Parthenon Publishing Group Inc. Support Center Support Center. Previous genetic mapping had narrowed the search for the gene to a particular spot on chromosome The new research has identified the specific location of the gene and much of its nucleic acid sequence. In some patients, the gene is severed by a chromosomal translocation, thereby eliminating the expression of the protein encoded by the gene.
In other patients, a point mutation in the gene changes one nucleic acid, which changes one amino acid in the encoded protein and presumably alters the normal function of the protein. The gene also has a high rate of spontaneous mutation.
An attractive hypothesis is that most patients with NF1 are born with one defective allele for the gene in every cell; when a postnatal somatic mutation arises in the second allele in a cell derived from neural crest, a neurofibroma begins growing.
This hypothesis can now be tested, prenatal diagnostic tests can be developed, and the molecular basis for NF1 can be pursued. Cawthon RM et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62 Wallace MR et al.
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