Results 131 to 140 of about 743 (164)
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Ophthalmological Issues in the Neurofibromatoses
Journal of Pediatric Ophthalmology and 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
Bruce Korf
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Nosological Considerations of the Neurofibromatoses
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.
David Viskochil
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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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Postgraduate Medicine, 1988
These are exciting times for patients and physicians concerned with the neurofibromatoses. These disorders have been known to medicine for more than 100 years, and now there is hope of achieving a thorough understanding of their pathogenesis. Despite this optimism, the need for careful clinical management of these patients and for solid clinical ...
Bruce Korf
exaly +3 more sources
These are exciting times for patients and physicians concerned with the neurofibromatoses. These disorders have been known to medicine for more than 100 years, and now there is hope of achieving a thorough understanding of their pathogenesis. Despite this optimism, the need for careful clinical management of these patients and for solid clinical ...
Bruce Korf
exaly +3 more sources
Journal of Neuropathology and Experimental Neurology, 2009
Anat Stemmer-Rachamimov +1 more
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Anat Stemmer-Rachamimov +1 more
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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
openaire +1 more source