Results 11 to 20 of about 12,566 (189)
PLoS Genetics, 2020 Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying these neurological symptoms are unknown.
Lanikea B King +7 more
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Persistent level 1 hypoglycemia due to hypothyroidism and underlying Neurofibromatosis type 1
Clinical Case Reports, 2023 Key Clinical Message Hypoglycemia in non‐diabetic patients is rare and may be due to various etiologies. It is important to recognize hypoglycemia early and appropriately manage hypoglycemia in patients with neurofibromatosis 1 and hypothyroidism ...
Hoang Nguyen +3 more
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Incidental Finding of Isolated Colonic Neurofibroma
Case Reports in Gastroenterology, 2013 Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla +3 more
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Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland [PDF]
Journal of Medical Genetics, 2000 Editor—Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant neurocutaneous disease characterised by cafe au lait spots and neurofibromas. The gene responsible for the disorder is located in the chromosome region 17q11.2. The prevalence of NF1 has been estimated to be about 1/3500 in the USA and the United
M, Poyhonen, S, Kytölä, J, Leisti
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An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion [PDF]
Molecular Syndromology, 2010 We report on a patient with <i>NF1</i> microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
L A, Praxedes +7 more
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Stem Cell Reports, 2019 Summary: Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop through
Meritxell Carrió +13 more
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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report
BMC Pediatrics, 2023 Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla +11 more
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Neurofibromatosis type 1 (NF1) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2010 Other names: Von Recklinghausen neurofibromatosis; Peripheral neurofibromatosis Inheritance: autosomal dominant with almost complete penetrance; frequency is 30/10 newborns (and 1 of 200 mentally handicapped persons): one of the most frequent genetically inheritable disease; neomutation in 50%, mostly from the paternal allele; highly variable ...
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Prospects for diagnostics and treatment of neurofibromatosis type 1 in Russia
Сибирский онкологический журнал, 2023 Purpose of the study. Analysis of available data on modern methods of diagnosis and treatment of neurofibromatosis type 1 (NF1) and their application in the Russian Federation. Material and Methods.
R. N. Mustafin
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Molecular genetics of neurofibromatosis type 1 (NF1). [PDF]
Journal of Medical Genetics, 1996 Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterised by multiple neurofibromas, café au lait spots, and Lisch nodules of the iris, with a variable clinical expression.
M H, Shen, P S, Harper, M, Upadhyaya
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