Results 41 to 50 of about 67,096 (237)
Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis
Neurologia Medico-ChirurgicaNF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised.
Ryota TAMURA, Masahiro YO, Masahiro TODA
doaj +1 more source
A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1 [PDF]
International Journal of Ophthalmology, 2018 We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic.
Jun Chen +7 more
doaj +1 more source
Simulations of magnetized multiphase galactic disk regulated by supernovae explosions [PDF]
, 2014 What exactly controls star formation in the Galaxy remains controversial. In particular, the role of feedback and magnetic field are still partially understood.
Hennebelle, Patrick, Iffrig, Olivier
core +5 more sources
Archives of Disease in Childhood, 2004 The index of the most recent edition of the standard UK paediatric textbook refers the reader to 10 pages featuring neurofibromatosis. Reading them one learns about the diagnostic criteria, neuroimaging features, genetics, and the special features of eye and skin involvement but not about on how patients might feel.
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2019 Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood.
Guanghui Zhu +11 more
doaj +1 more source
Melanoma mimicking malignant peripheral nerve sheath tumor with spread to the cerebellopontine angle: Utility of next-generation sequencing in diagnosis [PDF]
, 2018 Cutaneous spindle cell malignancy is associated with a broad differential diagnosis, particularly in the absence of a known primary melanocytic lesion.
Birinyi, Paul +6 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
MedwaveIntroduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor ...
Elius Paz-Cruz +9 more
doaj +1 more source
Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study
Orphanet Journal of Rare Diseases, 2018 Background Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall ...
Jussi Leppävirta +6 more
doaj +1 more source
Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano +7 more
wiley +1 more source