Results 11 to 20 of about 87,754 (311)

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M, Ribeiro, MJ, Silva, ED, Violante, IR   +3 more
core   +1 more source

Understanding intellectual disability through RASopathies [PDF]

, 2014
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael, San Martín, Alvaro   +1 more
core   +1 more source

Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]

, 2014
BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M, Eilber, Fritz C, Federman, Noah, Li, Yunfeng, Nakashima, Jonathan, Shurell, Elizabeth, Smith, Kathleen B, Tam, Brenna M, Tap, William D, Tran, Linh M, Wu, Hong   +10 more
core   +2 more sources

An isolated colonic neurofibroma: A rare colonic neoplasm. Case report with clinicopathologic features and review of literature

Human Pathology Reports, 2022
Neurofibromas of the large bowel are very rare and usually observed in the colonic region in neurofibromatosis type 1 (Von Recklinghausen’s disease).
Mukund Tinguria
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

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults

Frontiers in Neurology, 2018
Background and Purpose: Neurofibromatosis Type 2 (NF2) is an autosomal-dominant tumor-prone disorder characterized by the manifestations of central nervous system lesions.
Isabel Gugel, Isabel Gugel, Victor-Felix Mautner, Victor-Felix Mautner, Lan Kluwe, Lan Kluwe, Marcos Soares Tatagiba, Marcos Soares Tatagiba, Martin Ulrich Schuhmann, Martin Ulrich Schuhmann, Martin Ulrich Schuhmann   +10 more
doaj   +1 more source

The development of the PlexiQoL: A patient‐reported outcome measure for adults with neurofibromatosis type 1‐associated plexiform neurofibromas

Molecular Genetics & Genomic Medicine, 2020
Background To develop and validate a patient‐reported outcome (PRO) measure of quality of life (QoL), specific to patients with Neurofibromatosis Type 1 (NF1)‐associated plexiform neurofibromas (pNFs), suitable for use in clinical efficacy trials.
Alice Heaney, Jeanette Wilburn, Matthew Rouse, Shannon Langmead, Jaishri O. Blakeley, Susan Huson, Stephen P. McKenna   +6 more
doaj   +1 more source

A case of solitary digital glomus tumor associated with neurofibromatosis type 1

SAGE Open Medical Case Reports, 2023
An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai, Tsuyoshi Tajika, Takuro Kuboi, Yuhei Hatori, Takahiro Umeyama, Shinsuke Arisawa, Ayaka Katayama, Takaaki Sano, Hirotaka Chikuda   +8 more
doaj   +1 more source