Results 91 to 100 of about 27,346,886 (339)

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1

open access: yesOrphanet Journal of Rare Diseases, 2012
BackgroundTo examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1).MethodsTwo hundred and one NF1 patients underwent whole body MRI (WBMRI).
Rosa Nguyen   +7 more
semanticscholar   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

open access: yesFood Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

open access: yes, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang   +7 more
core   +2 more sources

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

open access: yesInternational Journal of Cancer, EarlyView.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang   +10 more
wiley   +1 more source

Embarazada con neurofibromatosis tipo 1

open access: yesRevista de Ciencias Médicas de Pinar del Río, 2016
La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio   +3 more
doaj  

Mesenteric neurofibromatosis complicated by acute appendicitis: case report and review of the literature

open access: yesFrontiers in Oncology
BackgroundMesenteric neurofibromatosis, a rare complication of neurofibromatosis type 1 (NF-1), comprises benign plexiform neurofibromas with recognized potential for malignant transformation.
Jixin Fu, Junguang Liu, Xin Sui
doaj   +1 more source

Image findings of cranial nerve pathology on [18F]-2- deoxy-D-glucose (FDG) positron emission tomography with computerized tomography (PET/CT): a pictorial essay. [PDF]

open access: yes, 2015
This article aims to increase awareness about the utility of (18)F -FDG-PET/CT in the evaluation of cranial nerve (CN) pathology. We discuss the clinical implication of detecting perineural tumor spread, emphasize the primary and secondary (18)F -FDG-PET/
Muzaffar, Razi   +3 more
core   +1 more source

Alterations in White Matter Microstructure in Neurofibromatosis-1

open access: yesPLoS ONE, 2012
Neurofibromatosis (NF1) represents the most common single gene cause of learning disabilities. NF1 patients have impairments in frontal lobe based cognitive functions such as attention, working memory, and inhibition.
Katherine H. Karlsgodt   +5 more
semanticscholar   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

open access: yesJCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes   +3 more
wiley   +1 more source

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