Results 51 to 60 of about 86,851 (276)
Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
core +2 more sources
Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma
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
Voice characteristics in adults with neurofibromatosis type 1 [PDF]
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
Organoids in pediatric cancer research
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning.
Alice Heaney +6 more
doaj +1 more source
Somatostatinoma of the Vater's papilla in a patient with von Recklinghausen's disease [PDF]
Background. Somatostatinomas of the gastrointestinal tract secret hormone somatostatin which can cause "inhibitory syndrome" comprising diabetes mellitus, cholelithiasis and steatorrheic diarrhea.
Čolović Radoje +3 more
doaj +1 more source
Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]
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
Segmental neurofibromatosis is a rare disorder, characterized by neurofibromas or cafι-au-lait macules limited to one region of the body. Its occurrence on the face is extremely rare and only few cases of segmental neurofibromatosis over the face have been described so far.
Galhotra, Virat +3 more
openaire +3 more sources
Spinal neurofibromatosis [PDF]
Neurofibromatosis is a congenital abnormality due to maldevelopment of the neurectoderm and mesoderm. Spinal abnormalities are a frequent occurrence and the roentgenological changes observed in 21 patients are presented. These include scoliosis, posterior scalloping of vertebral bodies, and the roentgenological features associated with intraspinal ...
N E, Leeds, H G, Jacobson
openaire +2 more sources
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
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

