Results 21 to 30 of about 61,555 (249)

Statins, bone, and neurofibromatosis type 1

BMC Medicine, 2008
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia.
Korf Bruce R
doaj   +1 more source

Pulsating Enophthalmos in Neurofibromatosis Type 1

Medicine Science, 2015
Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led ...
Yildiray Yildirim, Eyup Duzgun, Serkan Aribal, Taner Kar, Mehmet Sabahyildizi   +4 more
doaj   +1 more source

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources

An innovative resection of giant neurofibromas

Chinese Journal of Plastic and Reconstructive Surgery
Background: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang, Xuan Yu, Yihui Gu, Wei Wang, Chengjiang Wei, Bin Gu, Jun Yang, Qingfeng Li   +7 more
doaj   +1 more source

Cortical Malformations in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2004
Different types of malformations of cortical development in three cases of neurofibromatosis 1 (NF1) are reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +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

MRI Analysis of Neurofibromatosis Type 1

Pediatric Neurology Briefs, 1998
Serial MRI scans of 30 patients (mean age, 12 years) with neurofibromatosis Type 1 (NF-1) showed the evolution of high-signal brain lesions in a prospective study at the University of Connecticut Health Center, Farmington, and Children’s Medical Center ...
J Gordon Millichap
doaj   +1 more source

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   +3 more sources

Lisch Nodules in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 1991
The prevalence of Lisch nodules among 167 patients with neurofibromatosis 1 is reported from the Department of Pediatrics, Genetics Division, Miami Children’s Hospital, Miama, FL.
J Gordon Millichap
doaj   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang, Godec, Abigail, Hirbe, Angela C, Qin, Wenjing, Shao, Jieya, Tao, Yu, Zhang, Xiaochun, Zhu, Cuige   +7 more
core   +2 more sources