Results 291 to 300 of about 27,346,886 (339)
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Seizures in neurofibromatosis 1
Pediatric Neurology, 1998Neurofibromatosis 1 is a common, genetically transmitted neurodevelopmental disorder with a high potential to cause subcortical focal brain lesions. Although seizures occasionally complicate neurofibromatosis 1, they have not been characterized adequately in the disease.
K, Kulkantrakorn, T J, Geller
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Neurofibromatosis 1 in childhood
Seminars in Pediatric Neurology, 1998Neurofibromatosis 1 (NF1) is an autosomal-dominant disorder with an incidence of approximately 1 in 3,000. The cardinal features of the disorder are cafe au lait spots, axillary freckling, cutaneous neurofibromas, and iris hamartomas (Lisch nodules). Common complications include learning disability, scoliosis, and optic gliomas.
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2015
Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from neurofibromatosis type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race.
Jacqueline L, Anderson, David H, Gutmann
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Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from neurofibromatosis type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race.
Jacqueline L, Anderson, David H, Gutmann
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Succinct Pediatrics: Evaluation and Management for Newborn, Genetic, Neurologic, and Developmental-Behavioral Disorders, 2017
L. Demmer
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L. Demmer
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American journal of medical genetics
Abstract Neurofibromatosis 1 (NF1) is a tumor suppressor syndrome characterized by a predisposition to develop neurofibromas, gliomas, pigmentary lesions, and bony abnormalities. This chapter reviews NF1 including the epidemiology of this condition and a discussion of current diagnostic criteria.
Scott R. Plotkin +5 more
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Abstract Neurofibromatosis 1 (NF1) is a tumor suppressor syndrome characterized by a predisposition to develop neurofibromas, gliomas, pigmentary lesions, and bony abnormalities. This chapter reviews NF1 including the epidemiology of this condition and a discussion of current diagnostic criteria.
Scott R. Plotkin +5 more
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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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Preaxial polydactyly in neurofibromatosis 1
Clinical Dysmorphology, 2007Although skeletal manifestations are a cardinal feature of neurofibromatosis 1, they are largely confined to the axial skeleton and tibiae. In contrast, congenital malformations of the extremities are less common in patients with neurofibromatosis 1, occurring in fewer than 10%.
Marwan, Shinawi, Millan S, Patel
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Pentapathology in Neurofibromatosis 1
The Indian Journal of Pediatrics, 2013Kanwaljeet, Garg +3 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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