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Hemostasis and Type 1 Neurofibromatosis
Jeremy Niddam, MD +4 more
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Neurofibromatosis type 1 [PDF]
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the ...
Kevin P, Boyd, Bruce R, Korf, Amy, Theos
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Neurofibromatosis type 1 [PDF]
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system.
Patrick J, Cimino, David H, Gutmann
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[Pheochromocytoma in Neurofibromatosis Type 1]. [PDF]
Neurofibromatosis type 1 is a hereditary disease with a wide variability of clinical manifestations, from the almost complete absence of typical symptoms to a multisystem lesion of the body. One of the possible clinical manifestations of this pathology is a pheochromocytoma — a tumor of the adrenal gland with the possible development of considerable ...
Rebrova DV +17 more
europepmc +3 more sources
Cutaneous Findings in Neurofibromatosis Type 1 [PDF]
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway.
Bengisu Ozarslan +4 more
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European Journal of Cancer 30 (1994) 1974-1981. doi:10.1016/0959-8049(94)00389-M ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:23:06 ; DOI:10.1016/0959-8049(94)00389-M ; Page Range: 1974 ...
The authors are at the Department of Pediatrics, Division of Genetics, Center for Mammalian Genetics S.W. Archer Road, Box 100296, University of Florida, Gainesville, Florida 32610-0296, U.S.A. ( host institution ) +2 more
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Pseudoarthrosis in neurofibromatosis type-1 [PDF]
Abstract A 27 year old man presented with multiple papules, nodules, and hyperpigmented spots on the body, which he had had since early childhood. In addition, he had a deformity of the right forearm. Examination revealed multiple large sized café-au-lait macules, axillary freckling, and soft cutaneous neurofibromas (mollusca fibrosa ...
S, Kaur, G P, Thami, A J, Kanwar
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A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova +6 more
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An innovative resection of giant neurofibromas
Background: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang +7 more
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Cortical Malformations in Neurofibromatosis Type 1
Different types of malformations of cortical development in three cases of neurofibromatosis 1 (NF1) are reported from the University of Siena, Italy.
J Gordon Millichap
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