日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

FBN1插入易位导致马凡综合征出现新的隔代遗传模式:FISH的诊断价值及其对遗传咨询的意义

Beers, Breanna; Wexler, Hamilton; MacCarrick, Gretchen

Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings

心血管遗传咨询与各种临床适应症和环境下患者报告结局的改善相关。

Murray, Brittney; Gordon, Catherine; Christian, Susan; Dzwiniel, Tara; Tichnell, Crystal; Brown, Emily; MacCarrick, Gretchen; McClellan, Rebecca; Reuter, Chloe; Ison, Hannah; Carter, Jennefer; Moscarello, Tia; Murtha, Ryan; Pariani, Mitchel; Platt, Julia; Rigelsky, Christina; Clements, Diane; Crawford, Paul; Liu, Joseph; Jordan, Elizabeth; Hylind, Robyn J; Wong, Eugene K; Wang, Sarah; Lindsay-Mills, Zoe; Betts, Megan; Tricou, Eric; Sturm, Amy C; Buchanan, Adam H; Fitzgerald-Butt, Sara; Helm, Benjamin M; Yeates, Laura; Gen Couns, Grad Dip; Caleshu, Colleen; Ingles, Jodie; Gen Couns, Grad Dip; Yanek, Lisa; James, Cynthia A

Recurrent perforation of an implantable cardioverter-defibrillator lead in a patient with vascular Ehlers-Danlos syndrome

血管型埃勒斯-当洛斯综合征患者植入式心脏复律除颤器导线反复穿孔

Lee, Kyuna; Liskov, Steven; Lakdawala, Neal K; MacCarrick, Gretchen; Dietz, Harry C 3rd; Barth, Andreas S

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

对与马凡综合征相关的FBN1变异的解读和分类:临床基因组资源FBN1变异注释专家组的共识建议

Drackley, A; Somerville, C; Arnaud, P; Baudhuin, L M; Hanna, N; Kluge, M L; Kotzer, K; Boileau, C; Bronicki, L; Callewaert, B; Cecchi, A; Dietz, H; Guo, D; Harris, S; Jarinova, O; Lindsay, M; Little, L; Loeys, B; MacCarrick, G; Meester, J; Milewicz, D; Morisaki, T; Morisaki, H; Murdock, D; Renard, M; Richer, J; Robert, L; Ouzounian, M; Van Laer, L; De Backer, J; Muiño-Mosquera, L

Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination

COVID-19 感染和疫苗接种后血管结缔组织疾病的心血管并发症

Guerrerio, Anthony L; Mateja, Allyson; MacCarrick, Gretchen; Fintzi, Jonathan; Brittain, Erica; Frischmeyer-Guerrerio, Pamela A; Dietz, Harry C

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review

埃勒斯-当洛斯综合征亚型中的血管动脉瘤:系统性综述

Shabani, Mahsima; Abdollahi, Ashkan; Brar, Bobby K; MacCarrick, Gretchen L; Ambale Venkatesh, Bharath; Lima, Joao A C; Bodurtha, Joann N

Predictors of low bone density and fracture risk in Loeys-Dietz syndrome

Loeys-Dietz综合征中低骨密度和骨折风险的预测因素

Guerrerio, Anthony L; Mateja, Allyson; Rasooly, Marjohn; Levin, Samara; Magnani, Alaina; Dempsey, Caeden; MacCarrick, Gretchen; Dietz, Harry C; Brittain, Erica; Boyce, Alison M; Frischmeyer-Guerrerio, Pamela A

Accurate assignment of disease liability to genetic variants using only population data

仅使用人群数据即可准确地将疾病易感性与基因变异联系起来

Collaco, Joseph M; Raraigh, Karen S; Betz, Joshua; Aksit, Melis Atalar; Blau, Nenad; Brown, Jordan; Dietz, Harry C; MacCarrick, Gretchen; Nogee, Lawrence M; Sheridan, Molly B; Vernon, Hilary J; Beaty, Terri H; Louis, Thomas A; Cutting, Garry R

Assessment of pleural pressure during sleep in Marfan syndrome

马凡综合征患者睡眠期间胸膜压的评估

Sowho, Mudiaga; Jun, Jonathan; Sgambati, Francis; Potocki, Mariah; Schneider, Hartmut; Smith, Philip; Schwartz, Alan; Dietz, Harry; MacCarrick, Gretchen; Neptune, Enid

The use of nitrous oxide 'cracking' technology in the labour ward: a case report and patient account

在产房中使用一氧化二氮“裂解”技术:病例报告和患者自述

Khan-Perez, J; MacCarrick, T; Martin, F