Results 21 to 30 of about 54,369 (243)
Orphanet Journal of Rare Diseases, 2022 Background There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in ...
G. Hamoy-Jimenez +5 more
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Sexual Self-Esteem and Psychological Burden of Adults With Neurofibromatosis Type 1
Frontiers in Psychology, 2022 Neurofibromatosis type 1 (NF1) is one of the most common tumor predisposition syndromes which primarily affects the skin. NF1 is characterized by various degrees of skin tumors and pigmentation abnormalities such as café-au-lait macules.
Anna Leidger +3 more
doaj +1 more source
Neurofibromin expression by normal salivary glands
Head & Face Medicine, 2021 Introduction Neurofibromin, a protein encoded by the NF1 gene, is mutated in neurofibromatosis 1, one of the most common genetic diseases. Oral manifestations are common and a high prevalence of hyposalivation was recently described in individuals with ...
Eloá Borges Luna +3 more
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Reliability of functional outcome measures in adults with neurofibromatosis 2
SAGE Open Medicine, 2022 Objective: To determine inter- and intra-rater reliability of functional performance outcome measures in people with neurofibromatosis 2. To ascertain how closely objective and subjective measures align. Methods: Twenty-nine people with neurofibromatosis
Rebecca Louise Mullin +4 more
doaj +1 more source
Neurofibromatosis segmentaria, a propósito de un caso
, 2022 Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David +5 more
core +1 more source
Nature Communications, 2020 Recent studies suggest spatial segregation of tumor initiation and manifestation in IDH-WT glioblastomas. Here, the authors use serial MRI/3D-reconstruction, whole-genome sequencing and spectral karyotyping-based single-cell phylogenetic tree building to
Yinghua Li +15 more
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Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]
, 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
core +1 more source
Human Pathology Reports, 2022 Neurofibromas of the large bowel are very rare and usually observed in the colonic region in neurofibromatosis type 1 (Von Recklinghausen’s disease).
Mukund Tinguria
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Frontiers in Neurology, 2018 Background and Purpose: Neurofibromatosis Type 2 (NF2) is an autosomal-dominant tumor-prone disorder characterized by the manifestations of central nervous system lesions.
Isabel Gugel +10 more
doaj +1 more source
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
doaj +1 more source