Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry

Authors: Asch, Federico, Bavaria, Joseph, Desvigne-Nickens, Patrice, Devereux, Richard, Dietz, Harry, Eagle, Kim, Habashi, Jennifer, Holmes, Kathryn, Kroner, Barbara, LeMaire, Scott, McDonnell, Nazli, Maslen, Cheryl, Milewicz, Dianna, Milewski, Rita, Morris, Shaine, Prakash, Siddharth, Pyeritz, Reed, Ravekes, William, Roman, Mary, Shohet, Ralph, Silberbach, G. Michael, Song, Howard, Tolunay, H. Eser, Tseng, Hung, Weinsaft, Jonathan, Frankel, William C., Song, Howard K., Milewski, Rita K., Shalhub, Sherene, Pugh, Norma L., Eagle, Kim A., Roman, Mary J., Pyeritz, Reed E., Maslen, Cheryl L., Ravekes, William J., Milewicz, Dianna M., Coselli, Joseph S., LeMaire, Scott A.

Source: In The Annals of Thoracic Surgery May 2020 109(5):1378-1384

Cardiovascular Outcomes in Aortopathy

Authors: Holmes, Kathryn W., Markwardt, Sheila, Eagle, Kim A., Devereux, Richard B., Weinsaft, Jonathan W., Asch, Federico M., LeMaire, Scott A., Maslen, Cheryl L., Song, Howard K., Milewicz, Dianna M., Prakash, Siddharth K., Guo, Dongchuan, Morris, Shaine A., Pyeritz, Reed E., Milewski, Rita C., Ravekes, William J., Dietz, H.C., Shohet, Ralph V., Silberbach, Michael, Roman, Mary J.

Source: Journal of the American College of Cardiology. 79(21):2069-2081

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164545075.0x000001&indx=1&recIds=ETOCvdc_100164545075.0x000001

Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors

Authors: Bossone, Eduardo, Citro, Rodolfo, Body, Simon, Muehlschlegel, J. Daniel, Shahram, Jasmine T., Nguyen, Thy B., Stefano Nistri, Vicenza, Gilon, Dan, Durst, Ronen, de Vincentiis, Carlo, Pluchinotta, Francesca R., Sundt, Thoralf M., Michelena, Hector I., Limongelli, Giuseppe, McCarthy, Patrick M., Malaisrie, S. Chris, Bavishi, Aakash, Bissell, Malenka M., Huggins, Gordon S., Dayan, Victor, Dagenais, Francois, Corte, Alessandro Della, Girdsaukas, Evaldas, Yang, Bo, Eagle, Kim, Prakash, Siddharth K., Milewicz, Dianna M., Nguyen, Tom C., Sandhu, Harleen K., Safi, Hazim J., Denny, Josh C., Evangelista, Arturo, Galian-Gay, Laura, Eagle, Kim A., Ravekes, Williams, Dietz, Harry C., Holmes, Kathryn W., Habashi, Jennifer, LeMaire, Scott A., Coselli, Joseph S., Morris, Shaine A., Maslen, Cheryl L., Song, Howard K., Silberbach, G. Michael, Pyeritz, Reed E., Bavaria, Joseph E., Milewski, Karianna, Devereux, Richard B., Weinsaft, Jonathan W., Roman, Mary J., Shohet, Ralph V., McDonnell, Nazli, Asch, Federico M., Tolunay, H. Eser, Desvigne-Nickens, Patrice, Tseng, Hung, Kroner, Barbara L., Nissen, Alexander P., Truong, Van Thi Thanh, Alhafez, Bader A., Puthumana, Jyothy J., Estrera, Anthony L., Body, Simon C.

Source: In The Journal of Thoracic and Cardiovascular Surgery June 2020 159(6):2216-2226

Associations between Medical History, Cognition, and Behavior in Youth with Down Syndrome: A Report from the Down Syndrome Cognition Project

Authors: Rosser, Tracie C., Edgin, Jamie O., Capone, George T., Hamilton, Debra R., Allen, Emily G., Dooley, Kenneth J., Anand, Payal, Strang, John F., Armour, A. Chelsea, Frank-Crawford, Michelle A., Moore Channell, Marie, Pierpont, Elizabeth I., Feingold, Eleanor, Maslen, Cheryl L., Reeves, Roger H., Sherman, Stephanie L.

Source: American Journal on Intellectual and Developmental Disabilities. Nov 2018 123(6):514-528.

Peer Reviewed: Y

Page Count: 15

Sponsoring Agency: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH)

Descriptors: Youth, Down Syndrome, Correlation, Congenital Impairments, Children, Adolescents, Late Adolescents

Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry

Authors: Frankel, William C., Song, Howard K., Milewski, Rita K., Shalhub, Sherene, Pugh, Norma L., Eagle, Kim A., Roman, Mary J., Pyeritz, Reed E., Maslen, Cheryl L., Ravekes, William J., Milewicz, Dianna M., Coselli, Joseph S., LeMaire, Scott A.

Source: Annals of thoracic surgery. 109(5):1378-1384

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115222459.0x000001&indx=1&recIds=ETOCvdc_100115222459.0x000001

The Turner syndrome research registry: Creating equipoise between investigators and participants

Authors: Prakash, Siddharth K., Lugo‐Ruiz, Soniely, Rivera‐Dávila, Michelle, Rubio, Nunilo, Shah, Avni N., Knickmeyer, Rebecca C., Scurlock, Cindy, Crenshaw, Melissa, Davis, Shanlee M., Lorigan, Gary A., Dorfman, Aaron T., Rubin, Karen, Maslen, Cheryl, Bamba, Vaneeta, Kruszka, Paul, Silberbach, Michael

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 181(1):7-12

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082899617.0x000001&indx=1&recIds=ETOCvdc_100082899617.0x000001

The genetic basis of Turner syndrome aortopathy

Authors: Corbitt, Holly, Gutierrez, Jacob, Silberbach, Michael, Maslen, Cheryl L.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 181(1):101-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082899594.0x000001&indx=1&recIds=ETOCvdc_100082899594.0x000001

Contribution of copy-number variation to Down syndrome–associated atrioventricular septal defects

Authors: Ramachandran, Dhanya, Mulle, Jennifer G., Locke, Adam E., Bean, Lora J.H., Rosser, Tracie C., Bose, Promita, Dooley, Kenneth J., Cua, Clifford L., Capone, George T., Reeves, Roger H., Maslen, Cheryl L., Cutler, David J., Sherman, Stephanie L., Zwick, Michael E.

Source: In Genetics in Medicine July 2015 17(7):554-560

Conference summary: What we have learned and where we are headed

Authors: Maslen, Cheryl L.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 181(1):143-145

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082899428.0x000001&indx=1&recIds=ETOCvdc_100082899428.0x000001

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Authors: Prakash, Siddharth, Guo, Dongchuan, Maslen, Cheryl L., Silberbach, Michael, Milewicz, Dianna, Bondy, Carolyn A.

Source: In Genetics in Medicine January 2014 16(1):53-59

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

Authors: Ackerman, Christine, Locke, Adam E., Feingold, Eleanor, Reshey, Benjamin, Espana, Karina, Thusberg, Janita, Mooney, Sean, Bean, Lora J.H., Dooley, Kenneth J., Cua, Clifford L., Reeves, Roger H., Sherman, Stephanie L., Maslen, Cheryl L.

Source: In The American Journal of Human Genetics 5 October 2012 91(4):646-659

Mechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials

Authors: McKenna, Kathryn A., Hinds, Monica T., Sarao, Rebecca C., Wu, Ping-Cheng, Maslen, Cheryl L., Glanville, Robert W., Babcock, Darcie, Gregory, Kenton W.

Source: In Acta Biomaterialia January 2012 8(1):225-233

Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry

Authors: Song, Howard K., Kindem, Mark, Bavaria, Joseph E., Dietz, Harry C., Milewicz, Dianna M., Devereux, Richard B., Eagle, Kim A., Maslen, Cheryl L., Kroner, Barbara L., Pyeritz, Reed E., Holmes, Kathryn W., Weinsaft, Jonathan W., Menashe, Victor, Ravekes, William, LeMaire, Scott A.

Source: In The Journal of Thoracic and Cardiovascular Surgery 2012 143(2):282-286

An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

Authors: Parker, Heidi G., VonHoldt, Bridgett M., Quignon, Pascale, Margulies, Elliott H., Shao, Stephanie, Mosher, Dana S., Spady, Tyrone C., Elkahloun, Abdel, Cargill, Michele, Jones, Paul G., Maslen, Cheryl L., Acland, Gregory M., Sutter, Nathan B., Kuroki, Keiichi, Bustamante, Carlos D., Wayne, Robert K., Ostrander, Elaine A.

Source: Science, 2009 Aug . 325(5943), 995-998.

Access URL: https://www.jstor.org/stable/20544365

Impact of Image Analysis Methodology on Diagnostic and Surgical Classification of Patients With Thoracic Aortic Aneurysms

Authors: Mendoza, Dorinna D., Kochar, Minisha, Devereux, Richard B., Basson, Craig T., Min, James K., Holmes, Kathryn, Dietz, Harry C., Milewicz, Dianna M., LeMaire, Scott A., Pyeritz, Reed E., Bavaria, Joseph E., Maslen, Cheryl L., Song, Howard, Kroner, Barbara L., Eagle, Kim A., Weinsaft, Jonathan W.

Source: In The Annals of Thoracic Surgery 2011 92(3):904-912

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): Results from phase I and scientific opportunities in phase II

Authors: Kroner, Barbara L., Tolunay, H. Eser, Basson, Craig T., Pyeritz, Reed E., Holmes, Kathryn W., Maslen, Cheryl L., Milewicz, Dianna M., LeMaire, Scott A., Hendershot, Tabitha, Desvigne-Nickens, Patrice, Devereux, Richard B., Dietz, Harry C., Song, Howard K., Ringer, Danny, Mitchell, Megan, Weinsaft, Jonathan W., Ravekes, William, Menashe, Victor, Eagle, Kim A.

Source: In American Heart Journal 2011 162(4):627-632

Surgical Treatment of Patients Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Conditions

Authors: Song, Howard K., Bavaria, Joseph E., Kindem, Mark W., Holmes, Kathryn W., Milewicz, Dianna M., Maslen, Cheryl L., Pyeritz, Reed E., Basson, Craig T., Eagle, Kim, Tolunay, H. Eser, Kroner, Barbara L., Dietz, Hal, Menashe, Victor, Devereux, Richard B., Desvigne-Nickens, Patrice, Ravekes, William, Weinsaft, Jonathan W., Brambilla, Donald, Stylianou, Mario P., Hendershot, Tabitha, Mitchell, Megan S., LeMaire, Scott A.

Source: In The Annals of Thoracic Surgery 2009 88(3):781-788

Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications.

Authors: He, Guo‐Wei^1,2 (AUTHOR) gwhe@tju.edu.cn, Maslen, Cheryl L.³ (AUTHOR), Chen, Huan‐Xin¹ (AUTHOR), Hou, Hai‐Tao¹ (AUTHOR), Bai, Xiao‐Yan¹ (AUTHOR), Wang, Xiu‐Li¹ (AUTHOR), Liu, Xiao‐Cheng¹ (AUTHOR), Lu, Wan‐Li¹ (AUTHOR), Chen, Xin‐Xin⁴ (AUTHOR), Chen, Wei‐Dan⁴ (AUTHOR), Xing, Quan‐Sheng⁵ (AUTHOR), Wu, Qin⁵ (AUTHOR), Wang, Jun¹ (AUTHOR), Yang, Qin¹ (AUTHOR)

Source: Clinical Genetics. Nov2022, Vol. 102 Issue 5, p391-403. 13p.

Subject Terms: *DNA copy number variations, *TETRALOGY of Fallot, *GENETIC databases, *GENOME-wide association studies, *CONGENITAL heart disease, *IDENTIFICATION

Geographic Terms: CHINA

Tropoelastin Isoforms and Used Thereof

DNA Methylation Analysis of Turner Syndrome BAV.

Authors: Gutierrez, Jacob, Davis, Brett A., Nevonen, Kimberly A., Ward, Samantha, Carbone, Lucia, Maslen, Cheryl L.

Source: Frontiers in Genetics; 5/31/2022, p1-14, 14p

Subject Terms: DNA analysis, DNA methylation, METHYLATION, TURNER'S syndrome, TRANSCRIPTION factors, CONGENITAL heart disease, MITRAL valve