Results 41 to 50 of about 36,792 (224)
Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis
Orphanet Journal of Rare Diseases, 2023 Objective To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). Study design We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of ...
Tin-Suet Joan Lee +4 more
doaj +1 more source
Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review
Clinical Anatomy, EarlyView.ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley +1 more source
Pulmonary hypertension associated with neurofibromatosis type 2
Pulmonary Circulation, 2021 Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi +9 more
doaj +1 more source
Oculomotor nerve palsy in neurofibromatosis type 2
Radiology Case Reports, 2022 Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system.
Aymen Shahab, MBBS +6 more
doaj +1 more source
Correction to: Management of Neurofibromatosis Type 2 Associated Vestibular Schwannomas [PDF]
, 2021 Huan Jia +4 more
openalex +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Incidental Finding of Isolated Colonic Neurofibroma
Case Reports in Gastroenterology, 2013 Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla +3 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley +1 more source
Journal of Child Neurology, 2016 Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally.
Simone Ardern-Holmes +2 more
+4 more sources
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association [PDF]
, 2023 Hilde Brems +16 more
openalex +1 more source