Results 201 to 210 of about 34,784,083 (239)
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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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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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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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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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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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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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Anemic Nevus in Neurofibromatosis Type 1
Dermatology, 2013Anemic nevus (AN) is a congenital-vascular anomaly of the skin. Although it is a benign and asymptomatic lesion, it could be a frequent ‘cutaneous finding' in neurofibromatosis type 1 (NF1). We performed a retrospective analysis to detect the prevalence of AN in all children with a presumptive diagnosis of NF1 treated in our center.
G. Tadini +5 more
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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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Archives of Neurology, 1993
Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them.
D H, Gutmann, F S, Collins
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Recent advances in molecular genetics have enabled researchers to more rapidly identify human disease genes. The identification of these genes by positional cloning has opened the door to a better understanding of such diseases through a more complete appreciation of the molecular biologic processes that underlie them.
D H, Gutmann, F S, Collins
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