Results 11 to 20 of about 24,238,809 (267)
Neurofibromatosis 1 with pheochromocytoma
Indian Journal of Endocrinology and Metabolism, 2011 Von Hippel-Lindau (VHL) disease includes a wide spectrum of highly vascular tumors like pheochromocytoma, cysts and adenomas of the pancreas and kidney, endolymphatic sac and renal cell carcinoma.
K. V. S Hari Kumar +3 more
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Neurofibromatosis type 1 [PDF]
Journal of the American Academy of Dermatology, 2009 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]
QJM: An International Journal of Medicine, 2018 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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European Journal of Human Genetics, 2006 Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis.
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Neurofibromatosis 1: A family case series. [PDF]
J Family Med Prim Care, 2022 Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family (n = 3). Skin manifestations were present in
Sethi NK, Chadha C, Goyal S, Kaur M.
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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Italian Journal of Pediatrics, 2018 Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro +10 more
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Craniofacial and oral alterations in patients with Neurofibromatosis 1
Orphanet Journal of Rare Diseases, 2018 AbtsractNeurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory.
V. Visnapuu +4 more
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European Journal of Cancer, 1994 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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Journal of Medical Case Reports, 2012 Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu +5 more
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