Results 201 to 210 of about 44,772 (247)
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Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1
Lancet, The, 2003Rebecca M Reynolds, I W Campbell
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Neurologic Clinics, 2002
Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities.
Timothy M, Lynch, David H, Gutmann
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Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities.
Timothy M, Lynch, David H, Gutmann
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Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, 2000
Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 4000. Cognitive deficits and academic learning difficulties are the most common neurological 'complication' of NF1 in childhood and can be responsible for significant lifetime morbidity.
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Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 4000. Cognitive deficits and academic learning difficulties are the most common neurological 'complication' of NF1 in childhood and can be responsible for significant lifetime morbidity.
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Nature Reviews Disease Primers, 2017
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas.
David H, Gutmann +5 more
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Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas.
David H, Gutmann +5 more
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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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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
+5 more sources
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
+5 more sources
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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