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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Neurofibromatosis 1 and RNF213[original query]
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-
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
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
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
European journal of human genetics : EJHG 2023 4 .
Zanoni Paolo, Steindl Katharina, Sticht Heinrich, Oneda Beatrice, Joset Pascal, Ivanovski Ivan, Horn Anselm H C, Cabello Elena M, Laube Julia, Zweier Markus, Baumer Alessandra, Rauch Anita, Khan Nad
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