Results 161 to 170 of about 24,057 (201)
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Oral manifestations of neurofibromatosis types I and II
Oral Surgery, Oral Medicine, Oral Pathology, 1992The disease known as neurofibromatosis is now recognized to consist of distinct variants that differ from each other genetically, microscopically, and clinically. Neurofibromatosis type I (NF-I) is often referred to as von Recklinghausen's disease of skin, and its features are well known.
J R, Geist, D L, Gander, S J, Stefanac
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Molecular genetic diagnosis of neurofibromatosis type I
Orvosi Hetilap, 2011Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development.
Noémi, Polgár +4 more
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Oral neurofibrosarcoma associated with neurofibromatosis type I
Oral Surgery, Oral Medicine, Oral Pathology, 1991One of the most feared complications of neurofibromatosis type I (NF-I) is development of cancer, which is estimated to occur in about 5% of cases. The most common associated malignancy is the neurofibrosarcoma (NFS). HOwever, oral NFS in association with NF-I has rarely been reported. We report two cases of oral NFS arising in patients with NF-I. Both
B W, Neville +3 more
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Pediatric brain MRI in neurofibromatosis type I
European Radiology, 2004Neurofibromatosis (NF) is the most common of the phakomatoses, with a prevalence of 1 in 3-4,000. Many organ systems can be affected. In addition to multiple peripheral neurofibromas, NF I predisposed to CNS tumors including optic glioma, astrocytoma and plexiform neurofibroma.
Hans-J, Mentzel +7 more
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Autism Spectrum Disorder Profile in Neurofibromatosis Type I
Journal of Autism and Developmental Disorders, 2014Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking.
Garg, Shruti; id_orcid 0000-0002-4472-4583 +8 more
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Gliosarcoma Associated with Neurofibromatosis Type I: A Case Report
Tumori Journal, 2001Neurofibromatosis type I (NF I) is the most common hereditary syndrome predisposing to neoplasia. We report the third case in the literature, documenting the combination of gliosarcoma with NF I. The patient's son was known at our center because of a history of pleomorphic xanthoastrocytoma (PXA) with NF I. A 48-year-old man who had a
L, Elmaci +4 more
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Enteric Neuromuscular Manifestations in Neurofibromatosis Type I
Neurogastroenterology & MotilityABSTRACT Background Several genetic syndromes that affect nerve development and functioning may involve the enteric nervous system and present clinically as dysmotility syndromes, typically in childhood. Aim To review
John A. Damianos +2 more
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Lisch nodules in neurofibromatosis type I
Medicina Clínica (English Edition), 2019Antonio, Ramos Suárez +2 more
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Ulnar hypoplasia and neurofibromatosis type I
The Journal of Pediatrics, 2004Euthymia, Vargiami +2 more
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