Results 41 to 50 of about 54,719 (217)

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

Cortical Malformations in Neurofibromatosis Type 1

open access: yesPediatric Neurology Briefs, 2004
Different types of malformations of cortical development in three cases of neurofibromatosis 1 (NF1) are reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +1 more source

High axial myopia in neurofibromatosis type 1

open access: yesIndian Pediatrics Case Reports, 2021
Background: Clinicians must be aware of phenotypic variability in neurofibromatosis type 1 (NF 1) presentations. There is perhaps a limited understanding on progression of NF 1 in prepubertal years and the subsequent threat to vision.
Rajiv Garg   +3 more
doaj   +1 more source

Neuronavigational approach for orbital neurofibroma excision: a case report [PDF]

open access: yes, 2015
Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires ...
CASCONE, PIERO   +5 more
core   +1 more source

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

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary

open access: yesJAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD   +9 more
doaj   +1 more source

Pulsating Enophthalmos in Neurofibromatosis Type 1

open access: yesMedicine Science, 2015
Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led ...
Yildiray Yildirim   +4 more
doaj   +1 more source

Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome. [PDF]

open access: yes, 2014
BACKGROUND: Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis.
Becce, F.   +4 more
core   +3 more sources

Deciphering and Targeting the Schwannoma‐Neuron‐Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain

open access: yesAdvanced Science, EarlyView.
We established patient‐derived SWN cell lines and orthotopic PDX models that recapitulate patient pain phenotypes, alongside a novel intravital DRG imaging platform to track macrophage infiltration and neuronal pain responses. Using these models, we define HMGB1–CCL2–IL‐6 signaling crosstalk driving pain and identify EGF signaling as a key regulator of
Zhenzhen Yin   +17 more
wiley   +1 more source

Multiple glomus tumors and segmental neurofibromatosis: there are no coincidences [PDF]

open access: yes, 2011
Segmental neurofibromatosis is a rare subtype of neurofibromatosis type 1 (NF1). Glomus tumors are uncommon benign tumors.
Cabral, R, Santiago, F, Tellechea, O
core   +1 more source

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