Results 181 to 190 of about 38,064 (238)
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Orthopaedic Manifestations of Neurofibromatosis Type I
Journal of the American Academy of Orthopaedic Surgeons, 2022Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, resulting in an altered function of the neurofibromin protein. Owing to the ubiquitous expression of this protein, this syndrome is associated with pathology in many organ systems of the body, especially the central and peripheral ...
Timothy J. Evans +2 more
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Hemothorax in type I neurofibromatosis
The Annals of Thoracic Surgery, 1998We report a case of life-threatening hemothorax caused by rupture of a left thyrocervical trunk aneurysm and arteriovenous fistula in a patient with type I neurofibromatosis. This lesion was treated with endovascular coil embolization.
G P, Teitelbaum +2 more
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Intracerebral Haemorrhage in Neurofibromatosis Type I
Acta Neurochirurgica, 2001Neurofibromatosis type I patients usually present themselves with multiple neurofibromas and cafe-au-lait spots. We report a case with an intracerebral haemorrhage as an uncommon feature of the disease. The clinical, radiological, neurosurgical and histological features of this case are discussed and a review of the literature on the broad spectrum of ...
A V, Nijenhuis +3 more
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Current Opinion in Ophthalmology, 2012
This review will focus on the recent clinical insights into type I neurofibromatosis (NF1), the most common geno-oculo-dermatosis. Advances in the treatment will also be reviewed.NF1 shares phenotypic features with disorders such as Legius syndrome, type 2 neurofibromatosis (NF2), and multiple lentigenes syndrome.
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This review will focus on the recent clinical insights into type I neurofibromatosis (NF1), the most common geno-oculo-dermatosis. Advances in the treatment will also be reviewed.NF1 shares phenotypic features with disorders such as Legius syndrome, type 2 neurofibromatosis (NF2), and multiple lentigenes syndrome.
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Type I neurofibromatosis with pheochromocytoma
International Journal of Medical Science and Public Health, 2013Type 1 neurofibromatosis is a common neurocutaneous syndrome with various common and uncommon associations. The present case represents an uncommon association of type 1 neurofibromatosis and pheochromocytoma, which is probably due to mutation of NF-1 gene.
Saikat Datta, Sharmistha Bhattacherjee
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Neurofibromatosis type I: Spinal neoplasia without symptoms
The Indian Journal of Pediatrics, 2004Neurofibromatosis1 (NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by presence of hamartomas in multiple organs. Inheritance is autosomal dominant but spontaneous mutations are seen in half the cases.
Sheffali, Gulati +3 more
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Chiari I malformation and neurofibromatosis type 1
Pediatric Neurology, 2004Single case reports exist in the medical literature of patients with tonsillar ectopia, i.e., the Chiari I malformation and neurofibromatosis type 1. However, large series of patients with either of these entities have not been examined for the presence of both defects.
Richard Shane, Tubbs +4 more
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