Results 211 to 220 of about 39,307 (247)

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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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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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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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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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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Constipation in Children With Neurofibromatosis Type 1

Journal of Pediatric Gastroenterology and Nutrition, 2013
ABSTRACTBackground 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, Krogh, Klaus; id_orcid 0000-0001-9168-2403, Siggaard, Charlotte, Joensson, Iben M, Haagerup, Annette   +4 more
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Epilepsy surgery in Neurofibromatosis Type 1

Epilepsy Research, 2013
Epilepsy is relatively uncommon in patients with Neurofibromatosis Type 1 (NF1) and seizures are usually well controlled with antiepileptic treatment. However, pharmacoresistance has been reported in patients with NF1 and MRI evidence of malformations of cortical development or glioneuronal tumours.
Barba C, Jacques T, Kahane P, Polster T, Isnard J, Leijten FS, Ozkara C, Tassi L, Giordano F, Castagna M, John A, Oz B, Salon C, Streichenberger N, Cross JH, GUERRINI, RENZO   +15 more
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Neurofibromatosis Type 1

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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Neurofibromatosis Type 1 and Precocious Puberty

Journal of Pediatric Endocrinology and Metabolism, 2000
Since neurofibromatosis type 1 (NF1) is a well known cause of precocious puberty (PP), we reviewed 412 NF1 pediatric patients to evaluate the prevalence of PP, the association with optic pathway tumors (OPT), and other clinical, auxological and hormonal data.
Virdis R., Sigorini M., Laiolo A., Lorenzetti E., Street M. E., Villani A. R., Donadio A., Pisani F., Terzi C., Garavelli L.   +9 more
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Neurofibromatosis type 1 - an update

Seminars in Pediatric Neurology
Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas ...
Manikum Moodley, Karla Robles Lopez
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