Results 51 to 60 of about 86,851 (276)

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]

open access: yes, 2013
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

open access: yesPediatric 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

Voice characteristics in adults with neurofibromatosis type 1 [PDF]

open access: yes, 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

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
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

A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1

open access: yesSAGE Open Medicine, 2019
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]

open access: yesVojnosanitetski Pregled, 2007
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]

open access: yes, 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

Segmental neurofibromatosis

open access: yesIndian Journal of Dentistry, 2014
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]

open access: yesAmerican Journal of Roentgenology, 1976
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

open access: yesFEBS 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

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