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

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects

NOTCH1 变异体的 DNA 甲基化分析揭示了非综合征型先天性心脏缺陷的首个表观遗传特征

Dombrowsky, Gregor; van der Laan, Liselot; Silva, Ananília; Breckpot, Jeroen; Audain, Enrique; Wilsdon, Anna; Levy, Michael A; Vos, Niels; Mannens, Marcel; Wang, Jiao; Jain, Anjali; Lesurf, Robert; Winlaw, David; Bezzina, Connie R; Thomas, Mary Ann; Caliebe, Almuth; Klaassen, Sabine; Berger, Felix; Dittrich, Sven; Stiller, Brigitte; Abdul-Khaliq, Hashim; Dähnert, Ingo; Bu'Lock, Frances; Loughna, Siobhan; Brook, J David; Mital, Seema; Russell, Robert B; Pickardt, Thomas; Bauer, Ulrike; Kramer, Hans-Heiner; Uebing, Anselm; Henneman, Peter; Sadikovic, Bekim; Postma, Alex; Hitz, Marc-Phillip

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

细胞周期蛋白依赖性激酶 13 对小鼠心脏的正常发育至关重要

Waheed-Ullah Qazi, Wilsdon Anna, Abbad Aseel, Rochette Sophie, Bu'Lock Frances, Saed Asma Ali, Hitz Marc-Phillip, Brook J David, Loughna Siobhan

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

蛋白激酶PRKD1缺失对小鼠胚胎心脏发育的影响

Qazi Waheed-Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Marc-Phillip Hitz, Gregor Dombrowsky, Friederike Cuello, J David Brook, Siobhan Loughna

Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening

在一名患有法洛四联症并伴有主动脉夹层的患者中发现肌球蛋白轻链激酶基因变异:对发病机制的启示以及家族和人群筛查的作用

Debiec, Radoslaw; Ebeid, Armia; Hamby, Stephen; Anciunaite, Odeta; Illsley, Anne; Nizam, Ali; Iqbal, Madiha; Safwan, Kassem; Saifullah, Tariq; Bu'Lock, Frances; Suzuki, Toru; Samani, Nilesh J; Webb, Tom; Bolger, Aidan P

COVID-19 in congenital heart disease (COaCHeD) study

先天性心脏病中的 COVID-19 (COaCHED) 研究

Chivers, Sian; Cleary, Aoife; Knowles, Rachel; Babu-Narayan, Sonya V; Simpson, John M; Nashat, Heba; Dimopoulos, Konstantinos; Gatzoulis, Michael A; Wilson, Dirk; Prica, Milos; Anthony, James; Clift, Paul F; Jowett, Victoria; Jenkins, Petra; Khodaghalian, Bernadette; Jones, Caroline B; Hardiman, Antonia; Head, Catherine; Miller, Owen; Chung, Natali Ay; Mahmood, Umar; Bu'Lock, Frances A; Ramcharan, Tristan Kw; Chikermane, Ashish; Shortland, Jennifer; Tometzki, Andrew; Crossland, David S; Reinhardt, Zdenka; Lewis, Clive; Rittey, Leila; Hares, Dominic; Panagiotopoulou, Olga; Smith, Benjamin; Najih L, Muhammad; Bharucha, Tara; Daubeney, Piers Ef

Paediatric brain MRI findings following congenital heart surgery: a systematic review

先天性心脏病手术后儿童脑部MRI检查结果:系统评价

Alablani, Fatmah Jamal; Chan, Hoi Shan Asia; Beishon, Lucy; Patel, Nikil; Almudayni, Alanoud; Bu'Lock, Frances; Chung, Emma Ml

Medical education and training within congenital cardiology: current global status and future directions in a post COVID-19 world

先天性心脏病学领域的医学教育和培训:新冠疫情后世界的全球现状和未来方向

McMahon, Colin J; Tretter, Justin T; Redington, Andrew N; Bu'Lock, Frances; Zühlke, Liesl; Heying, Ruth; Mattos, Sandra; Krishna Kumar, R; Jacobs, Jeffrey P; Windram, Jonathan D

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

HEY2功能域的种系变异会导致先天性心脏缺陷和胸主动脉瘤。

van Walree, Eva S; Dombrowsky, Gregor; Jansen, Iris E; Mirkov, Maša Umićević; Zwart, Rob; Ilgun, Aho; Guo, Dongchuan; Clur, Sally-Ann B; Amin, Ahmed S; Savage, Jeanne E; van der Wal, Allard C; Waisfisz, Quinten; Maugeri, Alessandra; Wilsdon, Anna; Bu'Lock, Frances A; Hurles, Matthew E; Dittrich, Sven; Berger, Felix; Audain Martinez, Enrique; Christoffels, Vincent M; Hitz, Marc-Philip; Milewicz, Dianna M; Posthuma, Daniëlle; Meijers-Heijboer, Hanne; Postma, Alex V; Mathijssen, Inge B

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

全外显子组测序揭示非综合征型法洛四联症的主要遗传因素

Page, Donna J; Miossec, Matthieu J; Williams, Simon G; Monaghan, Richard M; Fotiou, Elisavet; Cordell, Heather J; Sutcliffe, Louise; Topf, Ana; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert; Dunwoodie, Sally L; Winlaw, David S; Bhattacharya, Shoumo; Breckpot, Jeroen; Devriendt, Koenraad; Gewillig, Marc; Brook, J David; Setchfield, Kerry J; Bu'Lock, Frances A; O'Sullivan, John; Stuart, Graham; Bezzina, Connie R; Mulder, Barbara J M; Postma, Alex V; Bentham, James R; Baron, Martin; Bhaskar, Sanjeev S; Black, Graeme C; Newman, William G; Hentges, Kathryn E; Lathrop, G Mark; Santibanez-Koref, Mauro; Keavney, Bernard D

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

原肌球蛋白 1:在心脏发育和先天性心脏缺陷形成中发挥多种作用

Jennifer England, Javier Granados-Riveron, Luis Polo-Parada, Diji Kuriakose, Christopher Moore, J David Brook, Catrin S Rutland, Kerry Setchfield, Christopher Gell, Tushar K Ghosh, Frances Bu'Lock, Christopher Thornborough, Elisabeth Ehler, Siobhan Loughna