Results 11 to 20 of about 61,555 (249)
Voice characteristics in adults with neurofibromatosis type 1 [PDF]
, 2010 Introduction and aims of the study: Change or loss of voice in patients with neurofibromatosis type 1 (NF1) has been associated with head and neck neurofibromas.
Corthals, Paul +4 more
core +2 more sources
Ocular gamut of neurofibromatosis type 1
Kerala Journal of Ophthalmology, 2023 Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa +3 more
doaj +1 more source
Hypervascular neurofibromas in a case of neurofibromatosis type 1: a case report [PDF]
, 2011 Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features.
Gogineni, Subhas Babu +1 more
core +1 more source
Neurofibromatosis type 1: Modeling CNS dysfunction [PDF]
, 2012 Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest central nervous system (CNS) abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction ...
Gutmann, David H +3 more
core +2 more sources
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Italian Journal of Pediatrics, 2018 Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro +10 more
doaj +1 more source
NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
core +3 more sources
Bone Manifestations of Neurofibromatosis Type 1
Global Pediatric Health, 2022 Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
Ibrahima Dokal Diallo +7 more
doaj +1 more source
A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]
Journal of IMAB, 2008 Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova +6 more
doaj +1 more source
Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
core +2 more sources
Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
core +1 more source