Results 31 to 40 of about 24,238,809 (267)
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
doaj +1 more source
Pediatric neurofibromatosis 1 and parental stress: a multicenter study
Neuropsychiatric Disease and Treatment, 2014 Background Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is ...
M. Esposito +6 more
semanticscholar +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [PDF]
PLoS ONE, 2018 BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
Claudia Santoro +10 more
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A case of lethal spontaneous massive hemothorax in a patient with neurofibromatosis 1
Journal of Cardiothoracic Surgery, 2014 Neurofibromatosis type 1 is an autosomal dominant disease characterized by multiple dermatological disorders amongst others. Among the less frequent manifestations are vascular abnormalities. Here, we present a case of spontaneous massive hemothorax in a
Luisa Zacarias Föhrding +7 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
npj Digital MedicineDeep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body
Cheng-Jiang Wei +12 more
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Tourette’s Syndrome and Neurofibromatosis 1
Pediatric Neurology Briefs, 2000 A case of Tourette’s syndrome in association with neurofibromatosis 1 is reported in an 11-year-old boy evaluated at the Instituto de Ciencias Neurologicas, Lima, Peru.
J Gordon Millichap
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Brazilian Journal of Anesthesiology, 2023 Neurofibromatosis type 1 is a complex genetic disorder affecting multiple organ systems. Cardiovascular manifestations include hypertension, often associated with concomitant pheochromocytoma.
Polyxeni Theodosopoulou +2 more
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source