Results 21 to 30 of about 27,346,886 (339)

Understanding intellectual disability through RASopathies [PDF]

open access: yes, 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   +1 more
core   +1 more source

The molecular landscape of glioma in patients with Neurofibromatosis 1

open access: yesNature Medicine, 2018
Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a heterogeneous spectrum of low- to high-grade neoplasms occurring during the entire lifespan of ...
F. D’Angelo   +46 more
semanticscholar   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

open access: yes, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S   +2 more
core   +3 more sources

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

open access: yes, 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   +10 more
core   +2 more sources

Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1

open access: yesNeuro-Oncology, 2018
Background Plexiform neurofibromas (PN) in neurofibromatosis 1 (NF1) can cause substantial morbidities. Clinical trials targeting PN have recently described decreases in PN volumes.
A. Gross   +9 more
semanticscholar   +1 more source

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

open access: yes, 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   +9 more
core   +3 more sources

Neurofibromatosis type 1

open access: yesEuropean Journal of Cancer, 1994
European Journal of Cancer 30 (1994) 1974-1981. doi:10.1016/0959-8049(94)00389-M ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:23:06 ; DOI:10.1016/0959-8049(94)00389-M ; Page Range: 1974 ...
The authors are at the Department of Pediatrics, Division of Genetics, Center for Mammalian Genetics S.W. Archer Road, Box 100296, University of Florida, Gainesville, Florida 32610-0296, U.S.A. ( host institution )   +2 more
openaire   +3 more sources

An Uncommon Presentation of Pheochromocytoma in Neurofibromatosis Type 1 and the Importance of Long-Term Follow-Up

open access: yesActa Médica Portuguesa, 2022
Neurofibromatosis type 1 (NFT1) is a disease caused by mutations in the tumor suppressor gene NF1. It is associated with a higher incidence of chromaffin cell tumors which are usually adrenal, unilateral and benign.
Inês Henriques Vieira   +3 more
doaj   +1 more source

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

open access: yes, 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   +21 more
core   +2 more sources

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

open access: yes, 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   +11 more
core   +2 more sources

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