Results 21 to 30 of about 49,367 (248)
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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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.
openaire +3 more sources
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
, 2022 Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare.
Nakamura, Takeshi +9 more
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Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome
, 2016 Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda +7 more
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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