Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Autor: Pearson, Gail, Stylianou, Mario, Mahony, Lynn, Sleeper, Lynn, Tennstedt, Sharon, Colan, Steven, Klein, Gloria, Guey, Lin, Wruck, Lisa, Travison, Thomas, Chen, Shan, Gerstenberger, Eric, Olesker, Tanya, Teitel, David F., Newburger, Jane, King, Martha, Dunbar-Masterson, Carolyn, Posa, Andrea, Nang, Quincy, Hass, Cara, Hsu, Daphne, Lai, Wyman, Hellenbrand, William, Printz, Beth, Devereux, Richard, Sherwood, Greysi, Vetter, Victoria, Paridon, Stephen, Gleason, Marie, Mirarchi, Nicole, DiLullo, Sandra, Ejembi, Agbenu, Morgan, Ruth, Benson, D. Woodrow, Border, William, Cnota, James, Heydarian, Haleh, James, Jeanne, Hogan, Kathryn, Bogenschutz, Lois, Benham, Mary Pat, Barnard, Teresa, Anderson, Page A.W., Li, Jennifer S., Wechsler, Stephanie Burns, Cook, Amanda, Sang, Charles, Covitz, Wesley, Sutton, Lori Jo, Crawford, Kari, Roberts, Summer, Palmer, Deborah, Saul, J. Philip, Atz, Andrew, Forbus, Geoffrey, Infinger, Patricia, Choudhury, Aparna, Minich, LuAnn, Williams, Richard, Yetman, Angela, Shearrow, Marian, Robinson, Michelle, Porter, June, McCrindle, Brian, Russell, Jennifer, Colman, Jack, Khaikin, Svetlana, Slater, Nancy, Dietz, Harry C., Ravekes, William J., Rykiel, Mary, Sparks, Elisabeth, MacCarrick, Gretchen, Leadroot, Jennifer, Canter, Charles, Sharkey, Angela, Braverman, Alan, Rainey, Cheryl, Jefferies, John L., Slesnick, Timothy, Martinez, Hugo, Menesses, Andres, Tenende, Tunu, Liang, David, Merkel, Elisabeth, Loeys, Bart, De Backer, Julie, Cobben, Jan Maarten, Sluysmans, Thierry, De Paepe, Anne, Gelb, Bruce, Srivastava, Shubhika, Mendiz-Ramdeen, Tejani, Weismann, Constance, Lawrence, Emily, Chin, Stephanie, Ko, Helen, Le Yau, Jen, Webber, Steven, Drant, Stacey, Luce, Jane, Stiegler, Kevin, Kinnard, Cheryl, Stewart, Cheri, Sommers, Sue, Madison, Carol, Young, Luciana, Domenico, Megan, Waitzman, Kathryn, Lozano, Carla, Baker, Charles, Zielinski, Erin, Velden, Heidi Vander, Overman, Alison, Lewin, Mark, Payne, Amy, Rimoin, David, Pariani, Mitchel, Siegel, Robert, Rafique, Asim, Grossfeld, Paul, Smith, Arlene, McLees-Palinkas, Terri, Colan, Steven D., Tierney, Elif Seda Selamet, Trevey, Shari, Rivera, Marga, Artman, Michael, Austin, Erle, Baldwin, H. Scott, Bernstein, Daniel, Feltes, Timothy, Johnson, Julie, Klitzner, Thomas, Krischer, Jeffrey, Matherne, G. Paul, Zahka, Kenneth G., Kugler, John, Driscoll, David J., Galantowicz, Mark, Hunsberger, Sally A., Knight, Thomas J., Taylor, Holly, Handisides, Jill C., Hollenbeck-Pringle, Danielle, Uzark, Karen, Trachtenberg, Felicia L., Pemberton, Victoria L., Atz, Teresa W., Bradley, Timothy J., Cappella, Elizabeth, De Nobele, Sylvia, Groh, Georgeann Keh-Teng, Hamstra, Michelle S., Korsin, Rosalind, Levine, Jami C., Lindauer, Bergen, Liou, Aimee, Neal, Meghan K. Mac, Markham, Larry W., Morrison, Tonia, Mussatto, Kathleen A., Olson, Aaron K., Pierpont, Mary Ella M., Pyeritz, Reed E., Radojewski, Elizabeth A., Roman, Mary J., Xu, Mingfen, Lacro, Ronald V. ^*

Publikováno v: In The Journal of Pediatrics January 2019 204:250-255

Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation

Autor: Zhao, Feng, Weismann, Constance G., Satoda, Masahiko, Pierpont, Mary Ella M., Sweeney, Elizabeth, Thompson, Elizabeth M., Gelb, Bruce D.

Publikováno v: In The American Journal of Human Genetics 2001 69(4):695-703

Is Age a Contributory Factor of Mitochondrial Bioenergetic Decline and DNA Defects in Idiopathic Dilated Cardiomyopathy?

Autor: Marin-Garcia, Jose ^{*, *}, Goldenthal, Michael J ^*, Pierpont, Mary Ella M, Ananthakrishnan, Radha ^*, Perez-Atayde, Antonio

Publikováno v: In Cardiovascular Pathology 1999 8(4):217-222

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Autor: Satoda, Masahiko, Zhao, Feng, Diaz, George A., Burn, John, Goodship, Judith, Davidson, H. Rosemarie, Pierpont, Mary Ella M., Gelb, Bruce D.

Publikováno v: Nature Genetics; May2000, Vol. 25 Issue 1, p42, 5p