Results 191 to 200 of about 38,064 (238)

Oral neurofibrosarcoma associated with neurofibromatosis type I

Oral Surgery, Oral Medicine, Oral Pathology, 1991
One 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, J, Hann, R, Narang, P, Garen   +3 more
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Molecular genetic diagnosis of neurofibromatosis type I

Orvosi Hetilap, 2011
Type 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, Katalin, Komlósi, Kinga, Hadzsiev, Tamás, Illés, Béla, Melegh   +4 more
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Neurofibromatosis Type I: Genetics and Clinical Manifestations

Seminars in Ophthalmology, 2008
Neurofibromatosis type I is multisystem disorder with myriad manifestations, many of which involve the eye. Diagnostic findings include neurofibromas, lisch nodules, café-au-lait macules, freckling, optic pathway gliomas, and skeletal dysplasia. The responsible gene and its protein product, neurofibromin have been identified. Advances have been made in
Aaron, Savar, Dean M, Cestari
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Pediatric brain MRI in neurofibromatosis type I

European Radiology, 2004
Neurofibromatosis (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, Jörg, Seidel, Clemens, Fitzek, Annegret, Eichhorn, Susanna, Vogt, Jürgen R, Reichenbach, Felix, Zintl, Werner A, Kaiser   +7 more
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Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Journal of Autism and Developmental Disorders, 2014
Neurofibromatosis 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, Plasschaert, Ellen, Descheemaeker, Mie-Jef, Huson, Susan, Borghgraef, Martine, Vogels, Annick, Evans, D Gareth, Legius, Eric, Green, Jonathan   +8 more
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Neurofibromatosis type I: Case report

East African Medical Journal, 2015
We present a case of neurofibromatosis type 1 (NF-1) discussing how cutaneous manifestations of disorders or  syndromes can be difficult to identify, especially when they are present since birth, present also in a  percentage of normal population, and especially when these are isolated findings, not accompanied by other  clinical relevant signs or ...
Gaido, G, Lanza, C
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Neurofibromatosis Type I

2021
null Ryan W. Woods, MD, MPH, null Kaitlin Peterson   +1 more
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Osteofibroma in type I neurofibromatosis.

Background: Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by a mutation in the NF1 gene on chromosome 17q11.2. There is insufficient evidence in the literature regarding the prevalence and incidence of neurofibromatosis type 1 in Hispanic populations, including Mexico. However, globally, the prevalence is estimated at 1 in 3,
Daniela Isabel Ramírez Jiménez M.D., Daniela Michell Santillán Mérida M.D., Armando Apellaniz Campo M.D., Sebastián Trigueiros Guzmán M.D., Karla Ines Martínez Armendariz M.D.   +4 more
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Dural ectasia in neurofibromatosis type I

2020
Clinical History: A 12-year-old female patient is brought to the emergency room due to a fall. She is referred for further evaluation due to some findings in his clinical examination in the emergency and orthopedic evaluation.
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Neurofibromatosis type 1 I. General overview

Journal of Neuroscience Research, 2000
M M, Lakkis, G I, Tennekoon
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