Results 11 to 20 of about 39,301 (221)
Pediatric Neurology Briefs, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
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Cancers, 2020 In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Hovinga, Koos E., Temel, Yasin
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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
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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
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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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European Journal of Medical Research, 2009 Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system.
Gerber PA +7 more
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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
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