Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: CADASIL and EGFR[original query] |
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| Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Annals of clinical and translational neurology 2016 Nov 3 (11): 844-853. Rutten Julie W, Dauwerse Hans G, Gravesteijn Gido, van Belzen Martine J, van der Grond Jeroen, Polke James M, Bernal-Quiros Manuel, Lesnik Oberstein Saskia A |
| The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul . Rutten Julie W, Van Eijsden Bastian J, Duering Marco, Jouvent Eric, Opherk Christian, Pantoni Leonardo, Federico Antonio, Dichgans Martin, Markus Hugh S, Chabriat Hugues, Lesnik Oberstein Saskia A |
| Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients. Journal of human genetics 2020 4 65 (8): 637-646. Mukai Mao, Mizuta Ikuko, Watanabe-Hosomi Akiko, Koizumi Takashi, Matsuura Jun, Hamano Ai, Tomimoto Hidekazu, Mizuno Toshi |
| A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020 12 29 (12): 105410. Wang Wan, Ren Zhixia, Shi Yingying, Zhang Jiew |
| NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients. Frontiers in genetics 2021 8 12 705284. Hu Yacen, Sun Qiying, Zhou Yafang, Yi Fang, Tang Haiyun, Yao Lingyan, Tian Yun, Xie Nina, Luo Mengchuan, Wang Zhiqin, Liao Xinxin, Xu Hongwei, Zhou L |
| Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease. Stroke 2021 8 52 (12): 3918-3925. Liu Jing-Yi, Yao Ming, Dai Yi, Han Fei, Zhai Fei-Fei, Zhang Ding-Ding, Zhou Li-Xin, Ni Jun, Zhang Shu-Yang, Cui Li-Ying, Zhu Yi-Che |
| NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature. Neuropathology and applied neurobiology 2021 7 48 (1): e12751. Gravesteijn Gido, Hack Remco J, Mulder Aat A, Cerfontaine Minne N, van Doorn Remco, Hegeman Ingrid M, Jost Carolina R, Rutten Julie W, Lesnik Oberstein Saskia A |
| Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study. Neurogenetics 2021 Nov . Min Ji-You, Park Seo-Jin, Kang Eun-Joo, Hwang Seung-Yong, Han Sung-H |
| Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes. Stroke 2022 7 53 (10): 3133-3144. Hack Remco J, Cerfontaine Minne N, Gravesteijn Gido, Tap Stephan, Hafkemeijer Anne, van der Grond Jeroen, Witjes-Ané Marie-Noëlle, Baas Frank, Rutten Julie W, Lesnik Oberstein Saskia A |
| Association of NOTCH3 Variant Position With Stroke Onset and Other Clinical Features Among Patients With CADASIL. Neurology 2022 5 99 (5): e430-9. Cho Bernard P H, Jolly Amy A, Nannoni Stefania, Tozer Daniel, Bell Steven, Markus Hugh |
| Prevalence and Predictors of Vascular Cognitive Impairment in Patients With CADASIL. Neurology 2022 5 99 (5): e453-61. Jolly Amy A, Nannoni Stefania, Edwards Hayley, Morris Robin G, Markus Hugh |
| Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction. Brain : a journal of neurology 2022 12 . Hack Remco J, Gravesteijn Gido, Cerfontaine Minne N, Santcroos Mark A, Gatti Laura, Kopczak Anna, Bersano Anna, Duering Marco, Rutten Julie W, Lesnik Oberstein Saskia A |
| Elderly CADASIL patients with intact neurological status. Journal of stroke 2022 Sep 24 (3): 352-362. Zhang Ruiting, Ouin Elisa, Grosset Lina, Ighilkrim Karine, Lebenberg Jessica, Guey Stéphanie, François Véronique, Tournier-Lasserve Elisabeth, Jouvent Eric, Chabriat Hugu |
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