Results 21 to 30 of about 39,301 (221)
Molecular Genetics & Genomic Medicine, 2020 Background To develop and validate a patient‐reported outcome (PRO) measure of quality of life (QoL), specific to patients with Neurofibromatosis Type 1 (NF1)‐associated plexiform neurofibromas (pNFs), suitable for use in clinical efficacy trials.
Alice Heaney +6 more
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A case of solitary digital glomus tumor associated with neurofibromatosis type 1
SAGE Open Medical Case Reports, 2023 An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai +8 more
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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Orphanet Journal of Rare Diseases, 2020 Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist +6 more
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Ocular Neurofibromatosis [PDF]
Cureus, 2021 A 14-year-old boy presented with a right orbital lid mass, which had slowly grown over the last 4.5 years, as well as some impaired visual acuity in the affected (right) eye. We assessed the patient by taking a detailed history and physical examination.
Alkhairy, Saba, Baig, Mahad M
openaire +2 more sources
Clinical Masks of Neurofibromatosis Type 1
Архивъ внутренней медицины, 2022 Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
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Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] [PDF]
Genetics in Medicine, 2009 Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome.
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The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj
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
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Pigment International, 2021 Bilateral segmental neurofibromatosis is a nonfamilial variant of neurofibromatosis without any systemic involvement. Speckled lentiginous nevus (SLN) is a pigmented, light brown to tan patch of varied diameter, speckled with smaller, darker colored ...
Bhagyashree B Supekar +4 more
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