Results 31 to 40 of about 38,110 (241)

Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I

Frontiers in Genetics, 2018
Neurofibromatosis type I is a rare neurocutaneous syndrome resulting from loss-of-function mutations of NF1. The present study sought to determine a correlation between mutation regions on NF1 and the risk of developing optic pathway glioma (OPG) in ...
Min Xu, Hui Xiong, Yanfang Han, Chijun Li, Shaozhen Mai, Shaozhen Mai, Zhongzhou Huang, Xuechen Ai, Zhixuan Guo, Fanqin Zeng, Qing Guo   +10 more
doaj   +1 more source

Benign retroperitoneal schwannoma presenting as colitis: A case report [PDF]

, 2007
We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass.
Claes, Kathleen, da Costa, Pierre Mendes, Duttmann, Ruth, Fass, Gary, Hossey, Didier, Nyst, Michel, Saligheh, Esmail Najar, Smets, Dirk   +7 more
core   +2 more sources

Risk factors for intraoperative hemorrhage of Type I neurofibromatosis

BMC Surgery, 2023
Introduction Neurofibromatosis (NF) is an inherited disease and a benign tumor originating from nerve sheath cells. Neurofibromatosis type I (NF1) is the most common type, and most cases are characterized by neurofibromas. Neurofibromas in NF1 are mainly
Qianqian Gao, Siwei Qu, Ning Ma, Weixin Wang, Sen Chen, Zhe Yang, Yangqun Li   +6 more
doaj   +1 more source

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

Neurofibroma of the Palate

Case Reports in Dentistry, 2014
Neurofibroma is a benign peripheral nerve sheath tumor comprising variable mixture of Schwann cells, perineurial-like cells, and fibroblasts. Neurofibroma may occur as solitary lesion or as part of a generalised syndrome of neurofibromatosis or very ...
Tirumalasetty Sreenivasa Bharath, Yelamolu Rama Krishna, Govind Rajkumar Nalabolu, Swetha Pasupuleti, Suneela Surapaneni, Suresh Babu Ganta   +5 more
doaj   +1 more source

Clinical Case of Pseudarthrosis of the Tibia in Patient with Neurofibromatosis Type I

Bolʹ, Sustavy, Pozvonočnik, 2014
The article describes the clinical signs of neurofibromatosis type I, in particular its bone manifestations. Also information on current approaches to diagnosis and surgical treatment of patients with neurofibromatosis type I and pseudarthrosis of the ...
Ya.V. Mysliborska
doaj   +1 more source

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

Clinical case of family neurofibromatosis type I

Лечащий Врач
Background. Neurofibromatosis is a group of orphan diseases with a wide spectrum of clinical presentation, which makes the disease difficult to diagnose. Pigmentation manifestations represent an early clinical sign in children with neurofibromatosis type
O. A. Inozemtsova, A. A. Antonova, T. G. Emelyanova, A. G. Kuznetsova, G. A. Yamanova, P. M. Abdurakhimova, D. R. Ilesheva   +6 more
doaj   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source