Results 11 to 20 of about 33,512 (212)
Ocular gamut of neurofibromatosis type 1
Kerala Journal of Ophthalmology, 2023 Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa +3 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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Pseudoarthrosis in neurofibromatosis type-1 [PDF]
Postgraduate Medical Journal, 2001 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 solitary digital glomus tumor associated with neurofibromatosis type 1
SAGE Open Medical Case Reports, 2023 An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai +8 more
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Cutaneous Findings in Neurofibromatosis Type 1 [PDF]
Cancers, 2021 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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Bone Manifestations of Neurofibromatosis Type 1
Global Pediatric Health, 2022 Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
Ibrahima Dokal Diallo +7 more
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Statins, bone, and neurofibromatosis type 1
BMC Medicine, 2008 Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia.
Korf Bruce R
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A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]
Journal of IMAB, 2008 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
Chinese Journal of Plastic and Reconstructive SurgeryBackground: 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
Pediatric Neurology Briefs, 2004 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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