Living with hypertrophic cardiomyopathy: a patient’s perspective von Borsari, Wendy, Davis, Lindsay, Meiers, Eric, Salberg, Lisa, Barbara McDonough

Volltext

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults von Morita, Hiroyuki, Rehm, Heidi L, Menesses, Andres, McDonough, Barbara, Roberts, Amy E, Kucherlapati, Raju, Towbin, Jeffrey A, Seidman, J.G, Seidman, Christine E

Volltext

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration von Fahed, Akl C., McDonough, Barbara, Gouvion, Cynthia M., Newell, Kathy L., Dure, Leon S., Bebin, Martina, Bick, Alexander G., Seidman, Jonathan G., Harter, Donald H., Seidman, Christine E.

Volltext

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease von Fatkin, Diane, MacRae, Calum, Sasaki, Takeshi, Wolff, Matthew R, Porcu, Maurizio, Frenneaux, Michael, Atherton, John, Vidaillet, Humberto J, Spudich, Serena, De Girolami, Umberto, Seidman, Christine E, Seidman, J.G, Muntoni, Francesco, Müehle, Gerry, Johnson, Wendy, McDonough, Barbara

Volltext

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy von Kamisago, Mitsuhiro, Sharma, Pankaj, Sharma, Sapna D, DePalma, Steven R, Solomon, Scott, McDonough, Barbara, Smoot, Leslie, Mullen, Mary P, Woolf, Paul K, Wigle, E. Douglas, Seidman, Christine E, Seidman, J.G, Jarcho, John, Shapiro, Lawrence R

Volltext

Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy von Lakdawala, Neal K, Thune, Jens J, Colan, Steven D, Cirino, Allison L, Farrohi, Faranak, Rivero, Jose, McDonough, Barbara, Sparks, Elizabeth, Orav, E J, Seidman, J G, Seidman, Christine E, Ho, Carolyn Y

Volltext

Cardiocutaneous Features of Autosomal Dominant Desmoplakin-Associated Arrhythmogenic Cardiomyopathy von Hylind, Robyn, Beauséjour-Ladouceur, Virginie, Plovanich, Molly Elizabeth, Helms, Adam, Smith, Eric, Joyce, Emer, Granter, Scott, Stevenson, Lynne Warner, Cirino, Allison L., McDonough, Barbara A., Mostaghimi, Arash, Abrams, Dominic J., Lakdawala, Neal K.

Volltext

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy von Rajkumar, Revathi, Sembrat, John C, McDonough, Barbara, Seidman, Christine E, Ahmad, Ferhaan

Volltext

Cells of the adult human heart von Litviňuková, Monika, Talavera-López, Carlos, Maatz, Henrike, Reichart, Daniel, Worth, Catherine L., Lindberg, Eric L., Kanda, Masatoshi, Polanski, Krzysztof, Heinig, Matthias, Lee, Michael, Nadelmann, Emily R., Roberts, Kenny, Tuck, Liz, Fasouli, Eirini S., DeLaughter, Daniel M., McDonough, Barbara, Wakimoto, Hiroko, Gorham, Joshua M., Samari, Sara, Mahbubani, Krishnaa T., Saeb-Parsy, Kourosh, Patone, Giannino, Boyle, Joseph J., Zhang, Hongbo, Zhang, Hao, Viveiros, Anissa, Oudit, Gavin Y., Bayraktar, Omer Ali, Seidman, J. G., Seidman, Christine E., Noseda, Michela, Hubner, Norbert, Teichmann, Sarah A.

Volltext

Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project von Ormondroyd, Elizabeth, Grace, Christopher, Borsari, Wendy, Goel, Anuj, McDonough, Barbara, Rose, Joel, Seidman, Christine, Watkins, Hugh

Volltext

Abstract Mo090: Altered Cardiac Cell Populations in Hypoplastic Left Heart Syndrome von Morton, Sarah, Brown, Kemar, Wei, Eric, Gorham, Joshua, MCDONOUGH, BARBARA, Beyer, Martin, Neyazi, Meraj, Layton, Olivia, Seidman, Jonathan, Seidman, Christine

Volltext

Cardiac Myosin Binding Protein-C Autoantibodies Are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome von Lynch, Thomas L., PhD, Kuster, Diederik W.D., PhD, Gonzalez, Beverly, ScM, Balasubramanian, Neelam, BA, Nair, Nandini, MD, PhD, Day, Sharlene, PhD, Calvino, Jenna E., BA, Tan, Yanli, RN, Liebetrau, Christoph, MD, Troidl, Christian, PhD, Hamm, Christian W., MD, Güçlü, Ahmet, MD, McDonough, Barbara, RN, Marian, Ali J., MD, van der Velden, Jolanda, PhD, Seidman, Christine E., MD, Huggins, Gordon S., MD, Sadayappan, Sakthivel, PhD

Volltext

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans von Lee, Vivian S., Halabi, Carmen M., Hoffman, Erin P., Carmichael, Nikkola, Leshchiner, Ignaty, Lian, Christine G., Bierhals, Andrew J., Vuzman, Dana, Medicine, Brigham Genomic, Mecham, Robert P., Frank, Natasha Y., Stitziel, Nathan O.

Volltext

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing von Ito, Kaoru, Patel, Parth N., Gorham, Joshua M., McDonough, Barbara, DePalma, Steven R., Adler, Emily E., Lam, Lien, MacRae, Calum A., Mohiuddin, Syed M., Fatkin, Diane, Seidman, Christine E., Seidman, J. G.

Volltext

Discordant clinical features of identical hypertrophic cardiomyopathy twins von Repetti, Giuliana G., Kim, Yuri, Pereira, Alexandre C., Ingles, Jodie, Russell, Mark W., Lakdawala, Neal K., Ho, Carolyn Y., Day, Sharlene, Semsarian, Christopher, McDonough, Barbara, DePalma, Steven R., Quiat, Daniel, Green, Eric M., Seidman, Christine E., Seidman, J. G.

Volltext

Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes von McKean, David M, Zhang, Qi, Narayan, Priyanka, Morton, Sarah U, Strohmenger, Viktoria, Tang, Vi T, McAllister, Sophie, Sharma, Ananya, Quiat, Daniel, Reichart, Daniel, DeLaughter, Daniel M, Wakimoto, Hiroko, Gorham, Joshua M, Brown, Kemar, McDonough, Barbara, Willcox, Jon A, Jang, Min Young, DePalma, Steven R, Ward, Tarsha, Kim, Richard, Cleveland, John D, Seidman, J G, Seidman, Christine E

Volltext

5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy von Christodoulou, Danos C., Wakimoto, Hiroko, Onoue, Kenji, Eminaga, Seda, Gorham, Joshua M., DePalma, Steve R., Herman, Daniel S., Teekakirikul, Polakit, Conner, David A., McKean, David M., Domenighetti, Andrea A., Aboukhalil, Anton, Chang, Stephen, Srivastava, Gyan, McDonough, Barbara, De Jager, Philip L., Chen, Ju, Bulyk, Martha L., Muehlschlegel, Jochen D., Seidman, Christine E., Seidman, J.G.

Volltext

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients von Cirino, Allison L, Lakdawala, Neal K, McDonough, Barbara, Conner, Lauren, Adler, Dale, Weinfeld, Mark, O'Gara, Patrick, Rehm, Heidi L, Machini, Kalotina, Lebo, Matthew, Blout, Carrie, Green, Robert C, MacRae, Calum A, Seidman, Christine E, Ho, Carolyn Y

Volltext

Abstract 202: The R21C Mutation in Troponin I Has a Founder Effect in South Lebanon and Causes Malignant Hypertrophic Cardiomyopathy von Fahed, Akl, Nemer, Georges, Bitar, Fadi, Arnaout, Samir, Abche, Antoine, Ware, James, Batrawi, Manal, Khalil, Athar, DePalma, Steven, McDonough, Barbara, Arabi, Mariam, Seidman, Jonathan, Seidman, Christine

Volltext

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation von Adalsteinsdottir, Berglind, Teekakirikul, Polakit, Maron, Barry J, Burke, Michael A, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari, DePalma, Steven R, Mazaika, Erica, McDonough, Barbara, Danielsen, Ragnar, Seidman, Jonathan G, Seidman, Christine E, Gunnarsson, Gunnar T

Volltext