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
Pre-operative Halo-Pelvic Traction for Neurofibromatosis Patients with Severe Proximal Thoracic Spinal Deformity: Indications and Early Treatment Outcome [PDF]
Malaysian Orthopaedic Journal, 2021 INTRODUCTION: To report the indications and early treatment outcomes of pre-operative halo-pelvic traction in patients with neurofibromatosis associated with severe proximal thoracic (PT) spinal deformity.
Chung WH +7 more
doaj +1 more source
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
core +1 more source
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
Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]
, 2020 Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J +11 more
core +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
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
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