Results 21 to 30 of about 38,242 (241)

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

, 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, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 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

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +7 more sources

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

Epithelioid sarcoma associated with neurofibromatosis type I [PDF]

Archives of Craniofacial Surgery, 2020
In general, patients with neurofibromatosis type I have a higher risk than those with other types of neurofibromatosis of developing soft-tissue sarcomas related to the nervous system. We here present a 42-year-old man with neurofibromatosis type I who developed a protruding mass over only 2 weeks.
Sung Oh Hwang, Soo Hyang Lee, Han Byul Lee   +2 more
openaire   +2 more sources

Neurofibromatosis type I: points to be considered by general pediatricians [PDF]

Clinical and Experimental Pediatrics, 2021
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and ...
Eungu Kang, Hee Mang Yoon, Beom Hee Lee
doaj   +1 more source

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

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

Notching in the Posterior Border of the Ramus of Mandible in a Patient with Neurofibromatosis Type I – A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
Neurofibromatosis Type I (NFI) is a relatively common hereditary, autosomal dominant neurocutaneous condition. It is a benign peripheral nerve sheath tumour arising from Schwann cells and peripheral fibroblasts.
Bhuvana Krishnamoorthy, Parul Singh, Suma Gundareddy N, Manisha Lakhanpal Sharma, Manu Dhillon   +4 more
doaj   +1 more source

Oral manifestations of Type I Neurofibromatosis in a family [PDF]

, 2011
Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I).
Khan, Mubeen, Ohri, Neera
core   +1 more source