Cecchi Alana C相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

胸主动脉夹层病例和马凡综合征患者中存在非典型剪接变异，但基因检测结果为阴性

期刊:npj Genomic Medicine

影响因子:4.8

doi:10.1038/s41525-025-00472-w

Murdock, David R; Guo, Dong-Chuan; DePaolo, John S; Schwarze, Ulrike; Duan, Xue-Yan; Cecchi, Alana C; Marin, Isabella C; Tang, YingYing; Chong, Jessica X; Bamshad, Michael J; Leppig, Kathleen A; Byers, Peter H; Damrauer, Scott M; Milewicz, Dianna M

发表日期：2025

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MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

MYH11 罕见变异可促进主动脉生长，并诱发心脏肥大和压力负荷过重引起的心力衰竭

期刊:PLoS Genetics

影响因子:3.7

doi:10.1371/journal.pgen.1011394

Zhou Zhen, Hughes Kgosi, Saif Nisha, Kim Hyoseon, Massett Michael P, Zheng Mingjie, Cecchi Alana C, Guo Dongchuan, Murdock David R, Pan Ping, Clinton Jelita S, Wang Jun, Greally John M, Milewicz Dianna M

发表日期：2025

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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference

遗传性血管疾病病例研究：UTHealth休斯顿多学科主动脉会议论文集

期刊:Journal of Vascular Surgery Cases Innovations and Techniques

影响因子:0.7

doi:10.1016/j.jvscit.2024.101684

Jaiswal, Milan; Ribe, Lucas; Afifi, Rana O; Ikeno, Yuki; Cecchi, Alana C; Zhao, Bihong; Tanaka, Akiko; Oderich, Gustavo S; Buja, L Maximilian; Milewicz, Dianna M; Prakash, Siddharth K; Estrera, Anthony L

发表日期：2025

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Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients

特纳综合征患者终生面临主动脉风险：无症状患者发生意外主动脉事件

期刊:Journal of Vascular Surgery Cases Innovations and Techniques

影响因子:0.7

doi:10.1016/j.jvscit.2025.101919

Jaiswal, Milan; Mansoorshahi, Sara; Zachariah, Sharon; Macedo, Thanila; Cecchi, Alana C; Tanaka, Akiko; Estrera, Anthony L; Afifi, Rana O; Oderich, Gustavo S; Milewicz, Dianna M; Prakash, Siddharth K

发表日期：2025

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Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome

血管型埃勒斯-当洛斯综合征动脉事件的多种表现形式

期刊:JACC: Case Reports

doi:10.1016/j.jaccas.2025.105424

Jaiswal, Milan; Mansoorshahi, Sara; Zachariah, Sharon; Macedo, Thanila; Cecchi, Alana C; Zhao, Bihong; Buja, L Maximilian; Milewicz, Dianna M; Oderich, Gustavo S; Afifi, Rana O; Tanaka, Akiko; Estrera, Anthony L; Arain, Salman A; Prakash, Siddharth K

发表日期：2025

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The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals

UTHealth休斯顿成人心血管基因组学证书项目：对医疗保健专业人员的有效性和影响

doi:10.21203/rs.3.rs-4469272/v1

Garner, Melyssa; Rajani, Bansari; Vaidya, Priyanka; Dayeh, Samer Abu; Cecchi, Alana C; Miyake, Christina C; Huff, Vicki; Wanat, Matthew; Wang, Elisabeth; Kurzlechner, Leonie M; Landstrom, Andrew P; An, Daniel; Liang, Yafen; Moulik, Mousumi; Wong, Timothy C; Cunha, Shane R; Cannon, Ashley; Holt, R Lynn; Milewicz, Dianna M; Prakash, Siddharth K

发表日期：2024

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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

编码钙激活氯离子通道的ANO1基因的罕见变异会使人易患烟雾病。

影响因子:11.7

doi:10.1093/brain/awad172

Pinard, Amélie; Ye, Wenlei; Fraser, Stuart M; Rosenfeld, Jill A; Pichurin, Pavel; Hickey, Scott E; Guo, Dongchuan; Cecchi, Alana C; Boerio, Maura L; Guey, Stéphanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J; Nickerson, Deborah A; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R; Kahle, Kristopher T; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M

发表日期：2023

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An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

在一个五代家族中，FBN1基因深内含子变异与假外显子形成和马凡氏综合征表型变异相关。

期刊:Clinical Genetics

影响因子:2.3

doi:10.1111/cge.14322

Guo, Dong-Chuan; Duan, Xueyan; Mimnagh, Kathleen; Cecchi, Alana C; Marin, Isabella C; Yu, Yang; Velasco, Walter V; Lee, Kwanghyuk; Zhu, Xue; Murdock, David R; Leal, Suzanne M; Wheeler, Marsha M; Smith, Josh; Bamshad, Michael J; Milewicz, Dianna M

发表日期：2023

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Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment

预防急性主动脉夹层：家族筛查和风险评估的作用

期刊:Journal of the American Heart Association

影响因子:5.3

doi:10.1161/JAHA.122.025441

Cecchi, Alana C; Boerio, Maura L; Marin, Isabella; Pinard, Amélie; Milewicz, Dianna M

发表日期：2022

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Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care

基因组医学在主动脉夹层治疗中的现状与未来发展方向：通往预防和个体化治疗之路

期刊:Seminars in Vascular Surgery

影响因子:2.4

doi:10.1053/j.semvascsurg.2022.02.003

Cecchi, Alana C; Drake, Madeline; Campos, Chrisanne; Howitt, Jake; Medina, Jonathan; Damrauer, Scott M; Shalhub, Sherene; Milewicz, Dianna M

发表日期：2022

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