Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: KRIT1[original query] |
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[Analysis of CCM1 gene mutations in Chinese patients with intracranial cavernous malformations]. Zhonghua yi xue za zhi 2005 Aug 85 (32): 2254-8. Xie Rong, Chen Xian-cheng, Fan Yong-feng, Xia Ying, Gao Liang, Li Xiao- |
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 |
Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity. Cerebrovascular diseases (Basel, Switzerland) 2014 38 (6): 433-40. Choquet Hélène, Pawlikowska Ludmila, Nelson Jeffrey, McCulloch Charles E, Akers Amy, Baca Beth, Khan Yasir, Hart Blaine, Morrison Leslie, Kim Helen, |
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 |
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 |
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. Free radical biology & medicine 2016 Jan . Choquet Hélène, Trapani Eliana, Goitre Luca, Trabalzini Lorenza, Akers Amy, Fontanella Marco, Hart Blaine L, Morrison Leslie A, Pawlikowska Ludmila, Kim Helen, Retta Saverio Frances |
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 |
Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity. Methods in molecular biology (Clifton, N.J.) 2020 6 2152 77-84. Choquet Hélène, Kim Hel |
Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups. Stroke 2020 Feb STROKEAHA119028840. Grami Nickrooz, Chong Michael, Lali Ricky, Mohammadi-Shemirani Pedrum, Henshall David E, Rannikmäe Kristiina, Paré Guillau |
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 |
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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- Page last updated:Apr 22, 2024
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