Results 241 to 250 of about 38,036,070 (284)

Neurofibromatosis Type 1

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 type 1 in children

American Journal of Ophthalmology, 1996
To 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, 2009
Neurofibromatosis 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, John, Lucas, Michael A, Babcock, David H, Gutmann, Bruce, Korf, Bernard L, Maria   +5 more
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Imaging biomarkers for malignant peripheral nerve sheath tumors in neurofibromatosis type 1

Neurology, 2019
Objective To determine the utility of quantitative metrics obtained from fMRI using diffusion-weighted imaging (DWI)/apparent diffusion coefficient (ADC) mapping compared with metabolic (18F-fluorodeoxyglucose [FDG]-PET/CT) imaging in patients with ...
S. Ahlawat, J. Blakeley, F. Rodriguez, L. Fayad   +3 more
semanticscholar   +1 more source

Neurofibromatosis Types 1 and 2

The Neurologist, 2006
Neurofibromatosis 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, 1993
Sometimes 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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Imaging Features of Neurofibromatosis Type 1 in the Abdomen and Pelvis.

AJR. American journal of roentgenology, 2020
OBJECTIVE. Loss of the neurofibromatosis type 1 (NF1) tumor suppressor protein causes uninhibited activation of the RAS oncogene, which leads to tumorigenesis in patients with NF1.
Maria Zulfiqar, M. Lin, Kristy L. Ratkowski, Marie-Helene Gagnon, C. Menias, C. Siegel   +5 more
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Epilepsy in neurofibromatosis type 1

Epilepsy & Behavior, 2017
To 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, Eric, Arehart, William, Gallentine, Rodney, Radtke, Edward, Smith, Carolyn, Pizoli, Sujay, Kansagra, Elie, Abdelnour, Roger, McLendon, Mohamad A, Mikati   +9 more
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Perceived fatigue in children and young adults with neurofibromatosis type 1

Journal of Paediatrics and Child Health, 2020
This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population.
G. Vassallo, Z. Mughal, L. Robinson, D. Weisberg, Stephen A. Roberts, Eileen Hupton, J. Eelloo, E. Burkitt Wright, S. Garg, Lauren Lewis, D. Evans, Stavros M. Stivaros   +11 more
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Anemic Nevus in Neurofibromatosis Type 1

Dermatology, 2013
Anemic 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, M. Brena, L. Pezzani, C. Gelmetti, F. Santagada, M. P. Boldrini   +5 more
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