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Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1
Lancet, The, 2003Rebecca M Reynolds, I W Campbell
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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
+5 more sources
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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Treatment of Neurofibromatosis Type 1
Current Treatment Options in Neurology, 2015Neurofibromatosis type 1 (NF1) is a genetic multisystemic disorder involving the skin, the central and peripheral nervous systems, bones, and the cardiovascular and endocrine systems. This condition is caused by inherited or de novo mutations of the NF1 gene at the 17q11.2 chromosomal region, a gene that codes for the protein neurofibromin ...
C. Sabatini +4 more
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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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Neurofibromatosis type 1 and pregnancy
American Journal of Medical Genetics, 1996Neurofibromatosis Type 1 (NF-1) is an autosomal dominant condition which has markedly variable clinical expression, with manifestations ranging from mild cutaneous lesions to severe orthopedic complications and functional impairment. The current obstetrical literature indicates that women with NF-1 have increased complications associated with pregnancy.
L, Dugoff, E, Sujansky
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Pathophysiology of Neurofibromatosis Type 1
Annals of Internal Medicine, 2006Neurofibromatoses are inherited disorders, designated as neurofibromatosis type 1 (NF1), neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath.
Amy, Theos, Bruce R, Korf
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Neurofibromatosis Type 1 Revisited
Pediatrics, 2009Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of ∼1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality.
Virginia C, Williams +5 more
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