Results 121 to 130 of about 548 (179)
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2012
The studies of familial tumor predisposition syndromes have contributed immensely to our understanding of oncogenesis. Neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis are inherited autosomal dominant neurocutaneous disorders with complete penetrance.
Erik J, Uhlmann, Scott R, Plotkin
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The studies of familial tumor predisposition syndromes have contributed immensely to our understanding of oncogenesis. Neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis are inherited autosomal dominant neurocutaneous disorders with complete penetrance.
Erik J, Uhlmann, Scott R, Plotkin
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The neurofibromatoses. An overview
The Italian Journal of Neurological Sciences, 1999The last two decades have seen clinical and molecular delineation of the different forms of neurofibromatosis. Differentiation of these forms is not just an academic exercise: their natural history, management and genetic counselling are quite different.
RUGGIERI, MARTINO, HUSON SM
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Neurologie up2date, 2022
Die Symptome einer Neurofibromatose können in allen Altersklassen erstmals auftreten, häufig bereits in den ersten 3 Lebensdekaden, teilweise mit sehr langsamer Entwicklung über Jahrzehnte oder rasch progredient innerhalb weniger Monate. Unter anderem diese unterschiedliche
Cordula Matthies +2 more
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Die Symptome einer Neurofibromatose können in allen Altersklassen erstmals auftreten, häufig bereits in den ersten 3 Lebensdekaden, teilweise mit sehr langsamer Entwicklung über Jahrzehnte oder rasch progredient innerhalb weniger Monate. Unter anderem diese unterschiedliche
Cordula Matthies +2 more
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Practical Neurology, 2010
Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited autosomal dominant disorders that have a significant impact on the nervous system and predispose to tumour formation. The current nomenclature makes NF1 and NF2 awkward bedfellows because they are clinically and genetically separate disorders. Neurofibromas are characteristic of NF1,
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Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited autosomal dominant disorders that have a significant impact on the nervous system and predispose to tumour formation. The current nomenclature makes NF1 and NF2 awkward bedfellows because they are clinically and genetically separate disorders. Neurofibromas are characteristic of NF1,
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2023
Abstract The neurofibromatoses include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. These are genetically distinct tumor suppressor syndromes with increased incidence of central and peripheral nervous system tumors and an autosomal dominant inheritance pattern. It is important to recognize these
Kun-Wei Song, Scott R. Plotkin
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Abstract The neurofibromatoses include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. These are genetically distinct tumor suppressor syndromes with increased incidence of central and peripheral nervous system tumors and an autosomal dominant inheritance pattern. It is important to recognize these
Kun-Wei Song, Scott R. Plotkin
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Nosological Considerations of the Neurofibromatoses
The Journal of Dermatology, 1992We are on the threshold of evaluating the NF1 and NF2 loci with respect to variant forms of the neurofibromatoses. Genetic mapping of NF1, gene cloning and characterization of its encoded product, neurofibromin, provides a framework for the evaluation of the variant forms of NF. This may also apply to NF2 variant forms in the near future.
D, Viskochil, J C, Carey
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2005
Abstract Three clinically and genetically distinct diseases are classified as neurofibromatoses: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. The inclusion of these three conditions in a single group reflects the fact that they share certain clinical features, but it is important to distinguish each disease ...
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Abstract Three clinically and genetically distinct diseases are classified as neurofibromatoses: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. The inclusion of these three conditions in a single group reflects the fact that they share certain clinical features, but it is important to distinguish each disease ...
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Prenatal Diagnosis of the Neurofibromatoses
Clinics in Perinatology, 1990This article reviews the application of genetic linkage analysis to molecular prenatal diagnosis using the neurofibromatoses as an example. The clinical manifestations and diagnostic criteria for these diseases are reviewed first, followed by a brief description of the principles underlying genetic linkage analysis, the detection of DNA polymorphisms ...
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New insights into the neurofibromatoses
Current Opinion in Neurology, 1994The two neurofibromatoses, neurofibromatosis type 1 (NF1) and type 2 (NF2), have been greatly advanced by the cloning of their respective disease genes. Although NF1 and NF2 are clinically distinct disorders, they represent diseases caused by disruption of tumor suppressor genes.
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Ophthalmological Issues in the Neurofibromatoses
Journal of Pediatric Ophthalmology & Strabismus, 1996ABSTRACT The neurofibromatoses are a set of at least two distinct disorders characterized by the development of nerve sheath tumors and diverse other features. Both are genetically determined as autosomal dominant traits, and both genes have been identified, with resultant major insights into pathogenesis. The neurofibromatoses have prominent
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