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Voice characteristics in adults with neurofibromatosis type 1 [PDF]
, 2010 Introduction and aims of the study: Change or loss of voice in patients with neurofibromatosis type 1 (NF1) has been associated with head and neck neurofibromas.
Corthals, Paul +4 more
core +2 more sources
Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
core +1 more source
Nf1 haploinsufficiency augments angiogenesis [PDF]
Oncogene, 2005 Mutations in the NF1 tumor-suppressor gene underlie neurofibromatosis type 1 (NF1), in which patients are predisposed to certain tumors such as neurofibromas and may associate with vascular disorder. Plexiform neurofibromas are slow growing benign tumors that are highly vascular and can progress to malignancy.
M, Wu, M R, Wallace, D, Muir
openaire +2 more sources
Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs
Cancer Management and Research, 2021 Jinchun Wu,1 Haiyan Zhou,2 Xiaoping Yi,3 Qiongzhi He,4 Tianxiang Lei,5 Fengbo Tan,5 Heli Liu,5 Bin Li1 1Department of Oncology, Xiangya Hospital, Central South University, Changsha 410008, People’s Republic of China; 2Department of Pathology ...
Wu J +7 more
doaj
Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]
, 2017 The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression ...
Bush, Erin C +6 more
core +2 more sources
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas [PDF]
European Journal of Human Genetics, 2011 Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerous germline NF1 mutations have been identified, relatively few somatic NF1 mutations have been described in neurofibromas. Here we have
Laura, Thomas +10 more
openaire +4 more sources
Scientific Reports, 2021 Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports.
Cecilie Ejerskov +6 more
doaj +1 more source
Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]
, 2018 Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C +7 more
core +5 more sources
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]
Genome Research, 2012 Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somaticNF1tumor suppressor gene mutations. However, genetically engineered mice (GEM) in which mono-allelic germlineNf1gene loss is coupled with bi ...
Gutmann, David H +14 more
openaire +3 more sources
Türk Oftalmoloji Dergisi, 2023 Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy.
Ece Özdemir Zeydanlı, Şengül Özdek
doaj +1 more source