Results 221 to 230 of about 55,376 (256)
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Archives of Neurology, 1999
Neurofibromatosis (NF) has perhaps been the most notorious of the neurocutaneous disorders. Both Quasimoto of Victor Hugo's The Hunchback of Notre Dame and John Merrick, known as the Elephant Man (who subsequently has been more properly classified as having Proteus syndrome, a quite different disorder), are 2 infamous examples that have shaped many ...
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Neurofibromatosis (NF) has perhaps been the most notorious of the neurocutaneous disorders. Both Quasimoto of Victor Hugo's The Hunchback of Notre Dame and John Merrick, known as the Elephant Man (who subsequently has been more properly classified as having Proteus syndrome, a quite different disorder), are 2 infamous examples that have shaped many ...
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The Neurofibromatosis Type 1 Gene
Annual Review of Neuroscience, 1993Sometimes referred to as peripheral neurofibromatosis or von Reck linghausen disease, neurofibromatosis 1 (NFl) is one of the most common medical conditions inherited in human populations. NFl , inherited as an autosomal dominant, affects approximately 1 in 3500 individuals world wide with no apparent ethnic predilection.
D, Viskochil, R, White, R, Cawthon
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Epilepsy in neurofibromatosis type 1
Epilepsy & Behavior, 2017To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1).Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period.Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures.
Anthony, Pecoraro +9 more
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Neurofibromatosis type 1 in children
American Journal of Ophthalmology, 1996To document ophthalmic and general characteristics of Neurofibromatosis Type 1 (NF1) in children; and to characterize the iris changes of NF1 including their variability and reliability.One hundred and ninety-six patients with NF1 were evaluated for general characteristics; 156 patients underwent prospective eye evaluations; and 151 NF1 patients and ...
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Pruritus in neurofibromatosis type 1
Italian Journal of Dermatology and Venereology, 2018Pruritus in neurofibromatosis type ...
Miraglia, Emanuele +2 more
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Neurofibromatosis Types 1 and 2
The Neurologist, 2006Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant neurocutaneous disorders with some similarities and many differences. They are frequently discussed together and often confused for one another by clinicians. Both disorders have widely variable presentations and degrees of severity. A thorough understanding of these complex disorders
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Neurofibromatosis type 1 - an update
Seminars in Pediatric NeurologyNeurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas ...
Manikum Moodley, Karla Robles Lopez
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Constipation in Children With Neurofibromatosis Type 1
Journal of Pediatric Gastroenterology and Nutrition, 2013ABSTRACTBackground and Objectives:Neurofibromatosis type 1 (NF1) is a hereditary, heterogenic, and multiorganic disease. The NF1 phenotype shows great variability in expressivity and often includes symptoms from the central and peripheral nervous systems. Bowel symptoms have been reported, but gastrointestinal function in NF1 remains to be described in
Pedersen, Cecilie E; id_orcid 0000-0003-3815-0613 +4 more
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Epidemiology of neurofibromatosis type 1
American Journal of Medical Genetics, 1999The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some NF1 patients.
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Vasculopathy in Neurofibromatosis Type 1
Radiology, 2023Azadehsadat Esfahani, Ayaz Aghayev
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