Results 41 to 50 of about 38,064 (238)

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
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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

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

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

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

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
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Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]

, 2013
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO, Nicita F, PAOLINO, MARIA CHIARA, PARISI, Pasquale, PERSECHINO, Severino, Torrente I, VILLA, MARIA PIA   +6 more
core   +2 more sources

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  

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
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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