Results 31 to 40 of about 87,754 (311)
Reliability of functional outcome measures in adults with neurofibromatosis 1
SAGE Open Medicine, 2018 Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 and to ascertain how closely objective and subjective measures align.
Rebecca L Mullin +5 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]
, 2018 Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C +7 more
core +5 more sources
Spinal neurofibromatosis [PDF]
American Journal of Roentgenology, 1976 Neurofibromatosis is a congenital abnormality due to maldevelopment of the neurectoderm and mesoderm. Spinal abnormalities are a frequent occurrence and the roentgenological changes observed in 21 patients are presented. These include scoliosis, posterior scalloping of vertebral bodies, and the roentgenological features associated with intraspinal ...
N E, Leeds, H G, Jacobson
openaire +2 more sources
Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
Journal of Obstetric Anaesthesia and Critical Care, 2014 Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh +4 more
doaj +1 more source
Retrospective cohort study of morphological features of recurrent schwannomas and neurofibromas
Сеченовский вестник, 2021 Recurrences of benign peripheral nerves sheaths tumours (BPNST) after total resection were described in 2.6–11.0% of patients. The significance of the histological features of recurrent BPNST is still insufficiently studied.Aim.
D. A. Murzaeva +4 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács +8 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
Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1
Journal of Behçet Uz Children's Hospital, 2021 Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare condition and involvement of plexiform neurofibroma can cause painful clitoromegaly. A 9-year-old
Özlem Nalbantoğlu +4 more
doaj +1 more source