Results 31 to 40 of about 5,977 (216)
Delayed rectifier K currents in NF1 Schwann cells
Neurobiology of Disease, 2003 K+ (K) currents are related to the proliferation of many cell types and have a relationship to second messenger pathways implicated in regulation of the cell cycle in development and certain disease states.
Lynne A Fieber +3 more
doaj +1 more source
Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]
, 2010 Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean +5 more
core +1 more source
Plexiform Neurofibroma of Clitoris [PDF]
Journal of Pediatric Genetics, 2017 AbstractThe most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis.
Dhanya, Yesodharan +6 more
openaire +2 more sources
Clinicopathologic analysis of 7 cases of oral schwannoma and review of the literature? [PDF]
, 2010 Schwannomas, also known as neurilemmomas, are uncommon neoplasms apparently derived from Schwann cells. The growth of these tumors causes displacement and compression of the nerve of origin.
Freitas, Roseana de Almeida +4 more
core +1 more source
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1 [PDF]
, 2012 BACKGROUND: To examine the natural growth dynamics of internal plexiform neurofibromas (PNs) in patients with neurofibromatosis 1 (NF1). METHODS: Two hundred and one NF1 patients underwent whole body MRI (WBMRI).
Brigitte C Widemann +7 more
core +1 more source
Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting [PDF]
, 2011 The 2011 annual meeting of the Children\u27s Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinical communities, was attended by 330 participants who discussed integration of new signaling pathways into NF research ...
Alison C. Lloyd +21 more
core +3 more sources
Telomere erosion in NF1 tumorigenesis [PDF]
, 2017 Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion.
Baird, Duncan +4 more
core +2 more sources
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]
, 2016 BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas +11 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source