未登录 ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm ROBO4变异使个体容易患二叶主动脉瓣和胸主动脉瘤 Gould, Russell A.; Aziz, Hamza; Woods, Courtney E.; Seman-Senderos, Manuel Alejandro; Sparks, Elizabeth; Preuss, Christoph; Wunnemann, Florian; Bedja, Djahida; Moats, Cassandra R.; McClymont, Sarah A.; Rose, Rebecca; Sobreira, Nara; Ling, Hua; MacCarrick, Gretchen; Kumar, Ajay Anand; Luyckx, Ilse; Cannaerts, Elyssa; Verstraeten, Aline; Bjork, Hanna M.; Lehsau, Ann-Cathrin; Jaskula-Ranga, Vinod; Lauridsen, Henrik; Shah, Asad A.; Bennett, Christopher L.; Ellinor, Patrick T.; Lin, Honghuang; Isselbacher, Eric M.; Cardenas, Christian Lacks Lino; Butcher, Jonathan T.; Hughes, G. Chad; Lindsay, Mark E.; Mertens, Luc; Franco-Cereceda, Anders; Verhagen, Judith M. A.; Wessels, Marja; Mohamed, Salah A.; Eriksson, Per; Mital, Seema; Van Laer, Lut; Loeys, Bart L.; Andelfinger, Gregor; McCallion, Andrew S.; Dietz, Harry C.; Valle, David; Lupski, James 分享 收藏
Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers A Pilot Randomized Trial to Modify Disease Expression Ho, Carolyn Y.; Lakdawala, Neal K.; Cirino, Allison L.; Lipshultz, Steven E.; Sparks, Elizabeth; Abbasi, Siddique A.; Kwong, Raymond Y.; Antman, Elliott M.; Semsarian, Christopher; Gonzalez, Arantxa; Lopez, Begona; Diez, Javier; Orav, E. John; Colan, Steven D.; Seidman, Christine E. 分享 收藏
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome Schepers, Dorien; Doyle, Alexander J.; Oswald, Gretchen; Sparks, Elizabeth; Myers, Loretha; Willems, Patrick J.; Mansour, Sahar; Simpson, Michael A.; Frysira, Helena; Maat-Kievit, Anneke; Van Minkelen, Rick; Hoogeboom, Jeanette M.; Mortier, Geert R.; Titheradge, Hannah; Brueton, Louise; Starr, Lois; Stark, Zornitza; Ockeloen, Charlotte; Lourenco, Charles Marques; Blair, Ed; Hobson, Emma; Hurst, Jane; Maystadt, Isabelle; Destree, Anne; Girisha, Katta M.; Miller, Michelle; Dietz, Harry C.; Loeys, Bart; Van Laer, Lut 分享 收藏
Truncations of Titin Causing Dilated Cardiomyopathy Herman, Daniel S.; Lam, Lien; Taylor, Matthew R. G.; Wang, Libin; Teekakirikul, Polakit; Christodoulou, Danos; Conner, Lauren; DePalma, Steven R.; McDonough, Barbara; Sparks, Elizabeth; Teodorescu, Debbie Lin; Cirino, Allison L.; Banner, Nicholas R.; Pennell, Dudley J.; Graw, Sharon; Merlo, Marco; Di Lenarda, Andrea; Sinagra, Gianfranco; Bos, J. Martijn; Ackerman, Michael J.; Mitchell, Richard N.; Murry, Charles E.; Lakdawala, Neal K.; Ho, Carolyn Y.; Barton, Paul J. R.; Cook, Stuart A.; Mestroni, Luisa; Seidman, J. G.; Seidman, Christine E. 分享 收藏
The Cardiac Myosin Binding Protein C Arg502Trp Mutation A Common Cause of Hypertrophic Cardiomyopathy Saltzman, Adam J.; Mancini-DiNardo, Debora; Li, Chumei; Chung, Wendy K.; Ho, Carolyn Y.; Hurst, Stephanie; Wynn, Julia; Care, Melanie; Hamilton, Robert M.; Seidman, Gregor W.; Gorham, Joshua; McDonough, Barbara; Sparks, Elizabeth; Seidman, J. G.; Seidman, Christine E.; Rehm, Heidi L. 分享 收藏
Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM Lakdawala, Neal K.; Dellefave, Lisa; Sparks, Elizabeth; Cirino, Allison; Depalma, Steve; Funke, Birgit; Colan, Steven D.; Watkins, Hugh; Robinson, Paul; Redwood, Charles S.; Seidman, Christine E.; Seidman, J. G.; McNally, Elizabeth M.; Ho, Carolyn Y. 分享 收藏
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease Guo, Dong-Chuan; Papke, Christina L.; Tran-Fadulu, Van; Regalado, Ellen S.; Avidan, Nili; Johnson, Ralph Jay; Kim, Dong H.; Pannu, Hariyadarshi; Willing, Marcia C.; Sparks, Elizabeth; Pyeritz, Reed E.; Singh, Michael N.; Dalman, Ronald L.; Grotta, James C.; Marian, Ali J.; Boerwinkle, Eric A.; Frazier, Lorraine Q.; LeMaire, Scott A.; Coselli, Joseph S.; Estrera, Anthony L.; Safi, Hazim J.; Veeraraghavan, Sudha; Muzny, Donna M.; Wheeler, David A.; Willerson, James T.; Yu, Robert K.; Shete, Sanjay S.; Scherer, Steven E.; Raman, C. S.; Buja, L. Maximilian; Milewicz, Dianna M. 分享 收藏
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Guo, Dong-Chuan; Pannu, Hariyadarshi; Tran-Fadulu, Van; Papke, Christina L.; Yu, Robert K.; Avidan, Nili; Bourgeois, Scott; Estrera, Anthony L.; Safi, Hazim J.; Sparks, Elizabeth; Amor, David; Ades, Lesley; McConnell, Vivienne; Willoughby, Colin E.; Abuelo, Dianne; Willing, Marcia; Lewis, Richard A.; Kim, Dong H.; Scherer, Steve; Tung, Poyee P.; Ahn, Chul; Buja, L. Maximilian; Raman, C. S.; Shete, Sanjay S.; Milewicz, Dianna M. 分享 收藏
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Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections Pannu, H; Fadulu, V; Chang, J; Lafont, A; Hasham, SN; Sparks, E; Giampietro, PF; Zaleski, C; Estrera, AL; Safi, HJ; Shete, S; Willing, MC; Raman, CS; Milewicz, DM 分享 收藏
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