Zobrazeno 1 - 10
of 1 342
pro vyhledávání: '"Neurofibromatosis type I"'
Autor:
Takuji Yamamoto, Yohshiro Nitobe, Kanichiro Wada, Gentaro Kumagai, Toru Asari, Kotaro Aburakawa, Yasuyuki Ishibashi
Publikováno v:
Spine Surgery and Related Research, Vol 8, Iss 1, Pp 106-109 (2024)
Externí odkaz:
https://doaj.org/article/076ce5f610e94144b5fd31b7cc042547
Autor:
Annabelle Darle, Thibault Mahiet, Déborah Aubin, Manon Doyen, Lina El Kassar, Béatrice Parfait, Gilles Lemaitre, Christine Baldeschi, Jennifer Allouche, Nathalie Holic
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders caused by heterozygous germline NF1 mutations. NF1 affects many systems, including the skeletal system. To date, no curative therapies are available for skeletal manifestation
Externí odkaz:
https://doaj.org/article/e3866548f6d2478d899ba5a586aec4b7
Autor:
Bruno Yuji Chimada, MD, Kohei Hachiro, MD, PhD, Noriyuki Takashima, MD, PhD, Tomoaki Suzuki, MD, PhD
Publikováno v:
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 1, Pp 101350- (2024)
Vasculopathy in patients with type 1 neurofibromatosis is known. Brachial artery aneurysms in patients with type 1 neurofibromatosis are rare, but any rupture can be extremely serious. A 56-year-old woman presented to our hospital with sudden pain in
Externí odkaz:
https://doaj.org/article/7141e65051fe42df868dedec0f9118ad
Publikováno v:
JAAD Case Reports, Vol 35, Iss , Pp 12-15 (2023)
Externí odkaz:
https://doaj.org/article/1aa7f6c21602443c9d7fd2220e67815f
Autor:
Siti Nurhazwani Kamaludin, MD, Marlina Yusuf, MD, MMed (Radiology), Warren Erwin Nicholas, MD, MS (Ortho), Aaron Paul, MD, MS (Ortho), CMIA, Yong Guang Teh, MD, DrRad
Publikováno v:
Radiology Case Reports, Vol 17, Iss 7, Pp 2388-2393 (2022)
Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive neoplasms associated with neurofibromatosis type 1. Specifically, children with deep plexiform neurofibromas are 18 times more likely to develop MPNSTs compared to the general
Externí odkaz:
https://doaj.org/article/adf9b340420b4ef68f16d97ce7a57f18
Autor:
André Leier, Marc Moore, Hui Liu, Michael Daniel, Alexis M. Hyde, Ludwine Messiaen, Bruce R. Korf, Jamuna Selvakumaran, Lukasz Ciszewski, Laura Lambert, Jeremy Foote, Margaret R. Wallace, Robert A. Kesterson, George Dickson, Linda Popplewell, Deeann Wallis
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 261-278 (2022)
We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPas
Externí odkaz:
https://doaj.org/article/e537f0d08c7e4a27859b8efc3e84fa46
Autor:
Ye-ting Li, Bachelor's degree, Hao Chen, Master degree, Xue Ding, Master degree, Qian Wu, Bachelor's degree, Qiu-chen Guo, Master degree, Duan-min Hu, PhD, Feng-yun Zhong, PhD, Yong-you Wu, PhD, Guang-qiang Chen, Master degree
Publikováno v:
Radiology Case Reports, Vol 16, Iss 8, Pp 2103-2107 (2021)
Plexiform neurofibroma(PNF) is a rare benign tumor of the peripheral nerve, belonging to a subtype of neurofibroma. PNF is common in the head, neck and trunk. It is uncommonly observed in the mesentery. We report a case of mesenteric PNF in a 64-year
Externí odkaz:
https://doaj.org/article/a60c419edd9f420b8f0256fcda35d18e
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Neurofibromatosis type I (NF1) is an autosomal dominant disease. Some NF1 patients experience atypical clinical manifestations, genetic testing is not widely available, and the types of mutations vary; thus, they are prone to misdiagnosis and missed
Externí odkaz:
https://doaj.org/article/1ffb8173ee694887be3fd9efdd8fe2d9
Autor:
Yihui Gu, Chengjiang Wei, Manhon Chung, Haibo Li, Zizhen Guo, Manmei Long, Yuehua Li, Wei Wang, Rehanguli Aimaier, Qingfeng Li, Zhichao Wang
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Malignant peripheral nerve sheath tumors (MPNST) are aggressive soft-tissue sarcomas which lack effective drugs. Loss of the RAS GTPase-activating protein NF1 and subsequent overactivation of mitogen-activated protein kinase kinase (MAPK) signaling e
Externí odkaz:
https://doaj.org/article/51128f4ec75646b389cc41607f46ccfe
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