Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: CCM2[original query] |
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CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study. International journal of molecular medicine 2012 Jun 29 (6): 1113-20. D'Angelo Rosalia, Scimone Concetta, Rinaldi Carmela, Trimarchi Giuseppe, Italiano Domenico, Bramanti Placido, Amato Aldo, Sidoti Antoni |
GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY. Journal of biological regulators and homeostatic agents 0 29 (2): 493-500. Rinaldi C, Bramanti P, Famà A, Scimone C, Donato L, Antognelli C, Alafaci C, Tomasello F, D'Angelo R, Sidoti |
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. Journal of molecular neuroscience : MN 2017 Jan 61 (1): 8-15. Yang Chenlong, Zhao Jizong, Wu Bingquan, Zhong Haohao, Li Yan, Xu Yul |
Genetic Screening of Pediatric Cavernous Malformations. Journal of molecular neuroscience : MN 2016 Oct 60 (2): 232-8. Merello Elisa, Pavanello Marco, Consales Alessandro, Mascelli Samantha, Raso Alessandro, Accogli Andrea, Cama Armando, Valeria Capra, De Marco Patriz |
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2016 Jun . Cohn-Hokke Petra E, Holstege Henne, Weiss Marjan M, van der Flier Wiesje M, Barkhof Frederik, Sistermans Erik A, Pijnenburg Yolande A L, van Swieten John C, Meijers-Heijboer Hanne, Scheltens Phil |
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. Journal of molecular neuroscience : MN 2016 Dec . Scimone Concetta, Bramanti Placido, Alafaci Concetta, Granata Francesca, Piva Francesco, Rinaldi Carmela, Donato Luigi, Greco Federica, Sidoti Antonina, D'Angelo Rosal |
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. BMC medical genetics 2016 Oct 17 (1): 74. Scimone Concetta, Bramanti Placido, Ruggeri Alessia, Donato Luigi, Alafaci Concetta, Crisafulli Concetta, Mucciardi Massimo, Rinaldi Carmela, Sidoti Antonina, D'Angelo Rosal |
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. Journal of the neurological sciences 2017 Sep 380 31-37. Rinaldi Carmela, Bramanti Placido, Scimone Concetta, Donato Luigi, Alafaci Concetta, D'Angelo Rosalia, Sidoti Antoni |
[Gene mutations in patients with hereditary cavernous malformations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2017 7 117 (6): 66-72. Belousova O B, Bulygina E S, Okishev D N, Prohorchuk E B, Tsygankova S V, Pronin I N, Shishkina L V, Ryzhova M V, Skryabin K G, Konovalov A |
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. Clinical genetics 2018 5 94 (3-4): 389-390. Jih K-Y, Chung C-P, Chang Y-Y, Hung P-L, Soong B-W, Liao Y-C, Lan M-Y, Lee Y |
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan. Scientific reports 2019 8 9 (1): 12387. Chang Chun-Wei, Hsu Peng-Wei, Wei Kuo-Chen, Chang Chia-Wen, Fung Hon-Chung, Hsih Mo-Song, Hsu Wen-Chuin, Ro Long-Sun, Chang Chen-Nen, Wang Jiun-Jie, Wu Yih-Ru, Chen Sien-Tso |
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations. Frontiers in neurology 2019 1 9 1128. Wang Kang, Wu Dengchang, Zhang Baorong, Zhao Guoh |
Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular genetics and genomics : MGG 2020 3 295 (3): 751-763. Dunn Paul J, Maher Bridget H, Albury Cassie L, Stuart Shani, Sutherland Heidi G, Maksemous Neven, Benton Miles C, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations. Journal of clinical medicine 2020 10 9 (11): . Paolacci Stefano, Mattassi Raul Ettore, Marceddu Giuseppe, Manara Elena, Zulian Alessandra, Guerri Giulia, De Antoni Luca, Arduino Carlo, Cavalca Daniela, Bertelli Matt |
Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations. Frontiers in neuroscience 2020 10 14 525986. Zhang Fan, Xue Yiteng, Zhang Feng, Wei Xiaoming, Zhou Zhisong, Ma Zhaoru, Wang Xiaosong, Shen Hong, Li Yujun, Cui Xiaoying, Liu |
Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations. Neurology 2021 8 97 (12): e1210-6. Fox Christine K, Nelson Jeffrey, McCulloch Charles E, Weinsheimer Shantel, Pawlikowska Ludmila, Hart Blaine, Mabray Marc, Zafar Atif, Morrison Leslie, Zabramski Joseph M, Akers Amy, Kim Hel |
Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease. Free radical biology & medicine 2021 6 172 403-417. Perrelli Andrea, Retta Saverio Frances |
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs. American journal of physiology. Cell physiology 2022 9 323 (4): C1274-C1284. Scimone Concetta, Donato Luigi, Alibrandi Simona, Alafaci Concetta, D'Ascola Angela, Vinci Sergio, D'Angelo Rosalia, Sidoti Antoni |
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view. Frontiers in neuroscience 2023 5 17 1184333. Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jun Do |
Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation. Angiogenesis 2023 1 . Huo Ran, Yang Yingxi, Sun Yingfan, Zhou Qiuxia, Zhao Shaozhi, Mo Zongchao, Xu Hongyuan, Wang Jie, Weng Jiancong, Jiao Yuming, Zhang Junze, He Qiheng, Wang Shuo, Zhao Jizong, Wang Jiguang, Cao Yo |
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden. Annals of clinical and translational neurology 2023 1 10 (3): 373-383. Kim Seondeuk, Moon Jangsup, Jung Keun-Hwa, Anh Seon-Jae, Lee Han Sang, Jang Yoonhyuk, Park Kyung-Il, Lee Sang Kun, Chu K |
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