Results 61 to 70 of about 25,083,649 (268)

A case of familial neurofibromatosis in pediatric practice

Alʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +3 more
doaj   +1 more source

Pulmonary hypertension associated with neurofibromatosis type 2

Pulmonary Circulation, 2021
Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi, Tomoya Takashima, Ly Tu, Raphaël Thuillet, Asuka Furukawa, Yoshiko Furukawa, Akio Kawamura, Marc Humbert, Christophe Guignabert, Yuichi Tamura   +9 more
doaj   +1 more source

Oculomotor nerve palsy in neurofibromatosis type 2

Radiology Case Reports, 2022
Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system.
Aymen Shahab, MBBS, Hafsa Sardar, MBBS, Samaa Akhtar, MD, MSc, Anam Safdar, MBBS,FCPS, Muhammad Ismail Safi, MD, Izaz Ahmad, Faheemullah Khan, MBBS,MD   +6 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +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

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

Incidental Finding of Isolated Colonic Neurofibroma

Case Reports in Gastroenterology, 2013
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla, Chaitanya K. Chandrala, Masooma Niazi, Kavitha Kumbum   +3 more
doaj   +1 more source

Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]

, 2018
Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C, Duron, Christina, Gutmann, David H, Hardin, Johanna, Ma, Yu, Pan, Yuan, Radunskaya, Ami, Sims, Peter A   +7 more
core   +5 more sources

Regulation of Mixed Lineage Kinase 3 is Required for Neurofibromatosis-2-Mediated Growth Suppression in Human Cancer

Oncogene, 2010
The Neurofibromatosis-2 (NF2) tumor suppressor merlin negatively regulates cell proliferation in numerous cell types. We have previously shown that the NF2 protein (merlin/schwannomin) associates with mixed lineage kinase 3 (MLK3), a mitogen-activated ...
Y. Zhan, Nidhi Modi, A. M. Stewart, Robert I. Hieronimus, Jinsong Liu, D. Gutmann, D. Chadee   +6 more
semanticscholar   +1 more source

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