Results 41 to 50 of about 38,110 (241)

Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]

, 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, Gutmann, David H, Ma, Yu, Pan, Yuan, Sims, Peter A, Solga, Anne C, Toonen, Joseph A   +6 more
core   +2 more sources

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1

Oman Journal of Ophthalmology, 2015
Neurofibromatosis Type I if associated with aplasia of greater wing of sphenoid may be associated with a pulsatile exophthalmos. However, very rarely it may be associated with a pulsatile enophthalmos.
Virender Sachdeva, Nazmul Haque, Avinash Pathengay, Ramesh Kekunnaya   +3 more
doaj   +1 more source

A literature review on surgery for cervical vagal schwannomas [PDF]

, 2015
Cervical vagal schwannoma is a benign, slow-growing mass, often asymptomatic, with a very low lifetime risk of malignant transformation in general population, but diagnosis is still a challenge.
A Peyvandi, A Ziadi, AL Moroni, BK Lahoti, D Biswas, E Langner, EN Callum, GC Kang, Giada Pattaro, Gianfranco Silecchia, Giuseppe Cavallaro, H Liu, J Valentino, JL Roh, KC Chiun, KR Hwang, L Rogers, Marcello Avallone, MG Chiofalo, MJ Gibber, MK Bhayani, MR Sreevatsa, NG McGuire, Olga Iorio, R Bilancia, R Matsuo, R Yasumatsu, RI Rückert, RM Lee, RS Murley, SH Kim, T Ogawa   +31 more
core   +2 more sources

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

MEKK2 mediates aberrant ERK activation in neurofibromatosis type I

Nature Communications, 2020
Neurofibromatosis type I (NF1) is characterized by prominent skeletal abnormalities mediated in part by aberrant ERK pathway activation due to NF1 loss-of-function.
Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt   +12 more
doaj   +1 more source

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Нервно-мышечные болезни, 2022
Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are ...
E. S. Makashova, K. O. Karandasheva, S. V. Zolotova, M. A. Ginzberg, M. Yu. Dorofeeva, M. V. Galkin, A. V. Golanov   +6 more
doaj   +1 more source

The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation. [PDF]

, 2017
Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs).
Castillon, Guillaume A, Cimino, Patrick J, Ellisman, Mark H, Gianino, Scott M, Gutmann, David H, Lee, Da Yong, Ma, Yu, Pan, Yuan, Solga, Anne C, Toonen, Joseph A   +9 more
core   +3 more sources

Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review

Clinical Anatomy, EarlyView.
ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley   +1 more source