Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Syndrome and RNF213[original query] |
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| Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K. Brain & development 2015 Sep 37 (8): 822-4. Chong Pin Fee, Ogata Reina, Kobayashi Hatasu, Koizumi Akio, Kira Ryuta |
| Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2015 May 24 (5): 1075-9. Miyawaki Satoru, Imai Hideaki, Shimizu Masahiro, Yagi Shinichi, Ono Hideaki, Nakatomi Hirofumi, Shimizu Tsuneo, Saito Nobuhi |
| Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. Journal of neurosurgery. Pediatrics 2016 Feb 1-6. Phi Ji Hoon, Choi Jung Won, Seong Moon-Woo, Kim Tackeun, Moon Youn Joo, Lee Joongyub, Koh Eun Jung, Ryu Seul Ki, Kang Tae Hee, Bang Jae Seung, Oh Chang Wan, Park Sung Sup, Lee Ji Yeoun, Wang Kyu-Chang, Kim Seung- |
| Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. Journal of neurosurgical sciences 2016 Oct . Raso Alessandro, Biassoni Roberto, Mascelli Samantha, Nozza Paolo, Ugolotti Elisabetta, DI Marco Eddi, DE Marco Patrizia, Merello Elisa, Cama Armando, Pavanello Marco, Capra Valer |
| Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul |
| Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ?43% of 35 Families With Midaortic Syndrome. Hypertension (Dallas, Tex. : 1979) 2018 2 71 (4): 691-699. Warejko Jillian K, Schueler Markus, Vivante Asaf, Tan Weizhen, Daga Ankana, Lawson Jennifer A, Braun Daniela A, Shril Shirlee, Amann Kassaundra, Somers Michael J G, Rodig Nancy M, Baum Michelle A, Daouk Ghaleb, Traum Avram Z, Kim Heung Bae, Vakili Khashayar, Porras Diego, Lock James, Rivkin Michael J, Chaudry Gulraiz, Smoot Leslie B, Singh Michael N, Smith Edward R, Mane Shrikant M, Lifton Richard P, Stein Deborah R, Ferguson Michael A, Hildebrandt Friedhe |
| Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism. World neurosurgery 2019 3 127 e460-e466. Nomura Shunsuke, Akagawa Hiroyuki, Yamaguchi Koji, Ishikawa Tatsuya, Kawashima Akitsugu, Kasuya Hidetoshi, Mukawa Maki, Nariai Tadashi, Maehara Taketoshi, Okada Yoshikazu, Kawamata Takaka |
| Prolonged/delayed cerebral hyperperfusion in adult patients with moyamoya disease with RNF213 gene polymorphism c.14576G>A (rs112735431) after superficial temporal artery-middle cerebral artery anastomosis. Journal of neurosurgery 2020 Oct 1-8. Tashiro Ryosuke, Fujimura Miki, Katsuki Masahito, Nishizawa Taketo, Tomata Yasutake, Niizuma Kuniyasu, Tominaga Tei |
| Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease. Neurosurgical focus 2021 9 51 (3): E2. Ishisaka Eitaro, Watanabe Atsushi, Murai Yasuo, Shirokane Kazutaka, Matano Fumihiro, Tsukiyama Atsushi, Baba Eiichi, Nakagawa Shunsuke, Tamaki Tomonori, Mizunari Takayuki, Tanikawa Rokuya, Morita Ak |
| Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy. Neurology 2021 2 96 (13): e1783-e1791. Pinard Amélie, Fiander Maximillian D J, Cecchi Alana C, Rideout Andrea L, Azouz Mohamed, Fraser Stuart M, McNeely P Daniel, Walling Simon, Novara Sarah C, Hurst Anna C E, Guo Dongchuan, Parkash Sandhya, Bamshad Michael J, Nickerson Deborah A, Vandersteen Anthony M, Milewicz Dianna |
| Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A. Frontiers in endocrinology 2021 12 12 703410. Matano Fumihiro, Murai Yasuo, Watanabe Atsushi, Shirokane Kazutaka, Igarashi Takehito, Shimizu Kazuo, Shimada Takashi, Morita Ak |
| De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genetics in medicine : official journal of the American College of Medical Genetics 2023 11 101013. Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljevi?, Nina Bariši?, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagn |
| Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease. Journal of neurosurgery 2024 9 1-10. Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Daiichiro Ishigami, Masahiro Shimizu, Yu Sakai, Shotaro Ogawa, Satoshi Kiyofuji, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Hideaki Ono, Hirofumi Nakatomi, Shumpei Ishikawa, Nobuhito Sai |
| Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024 8 . Ting-Chun Lin, Haruto Uchino, Masaki Ito, Shigeru Yamaguchi, Yukitomo Ishi, Miki Fujimu |
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