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 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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Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 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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NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
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Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]
, 2014 BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M +10 more
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The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation. [PDF]
, 2017 Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs).
Castillon, Guillaume A +9 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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Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]
, 2018 Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F +21 more
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