International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome

Autor: Derek Ruths, Maranke I. Koster, Virginia P. Sybert, Vivian A. Lombillo, Dennis R. Roop, Edward A. Ratovitski, Caterina Missero, Laura D. Attardi, Frank McKeon, Suzanne E. Clements, Meena R. Julapalli, Alanna F. Bree, Hans vanBokhoven, Elaine C. Siegfried, Mary Fete

Publikováno v: American Journal of Medical Genetics Part A. :1885-1893

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0aba00720b8acacafd7e7ad964d9cb0
https://doi.org/10.1002/ajmg.a.32761

Neonatal linear immunoglobulin a bullous dermatosis: a rare presentation

Autor: Meena R, Julapalli, Kirra L, Brandon, Cecilia M, Rosales, Raminder K, Grover, Richard W, Plunkett, Denise W, Metry

Publikováno v: Pediatric dermatology. 29(5)

Linear immunoglobulin A bullous dermatosis (LABD) is an autoimmune blistering disease that most commonly presents in preschool-aged children. There have been few neonatal reports, all of which had life-threatening aerodigestive complications requirin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6ac9a7ef54359951ca53169a15f48aae
https://pubmed.ncbi.nlm.nih.gov/21906150

CONTRIBUTORS

Autor: John G. Aaskov, Susan M. Abdel-Rahman, Christoph Aebi, Marvin E. Ament, Marsha S. Anderson, Stephen S. Arnon, Ann M. Arvin, Jane T. Atkins, Robert L. Atmar, Carol J. Baker, Robert S. Baltimore, Stephen J. Barenkamp, Elizabeth D. Barnett, Robert D. Basow, William R. Beisel, Beth P. Bell, Gil Benard, David I. Bernstein, Kathrin M. Bernt, Andrea A. Berry, Charles D. Bluestone, Jeffrey L. Blumer, Robert Bortolussi, Bobby L. Boyanton, Kenneth M. Boyer, John S. Bradley, Michael T. Brady, William J. Britt, Annemarie Broderick, David E. Bronstein, David A. Bruckner, Steven C. Buckingham, Ana Burgos, Carrie L. Byington, Judith R. Campbell, Samson Cantu, Mariam R. Chacko, Louisa E. Chapman, Rémi N. Charrel, Tempe K. Chen, James D. Cherry, P. Joan Chesney, Madhuri C. Chilakapati, Javier Chinen, Natascha Ching, H. Fred Clark, Thomas G. Cleary, David K. Coats, Armando G. Correa, J. Thomas Cross, William B. Cutrer, Ronald Dagan, David E. Dassey, Jeffrey P. Davis, Gail J. Demmler-Harrison, Penelope H. Dennehy, Minh L. Doan, Simon R. Dobson, Jan E. Drutz, Paul H. Edelstein, Kathryn M. Edwards, Morven S. Edwards, B. Keith English, Dora Estripeaut, Leland L. Fan, Ralph D. Feigin, George D. Ferry, Anthony E. Fiore, Philip R. Fischer, Randall G. Fisher, Patricia M. Flynn, Thomas R. Flynn, Lisa M. Frenkel, Ellen M. Friedman, Richard A. Friedman, Lynne S. Garcia, Patrick J. Gavin, Michael A. Gerber, Anne A. Gershon, Mark A. Gilger, Susan L. Gillespie, Daniel G. Glaze, W. Paul Glezen, Mary P. Glodé, Donald A. Goldmann, Ellie J.C. Goldstein, Nira A. Goldstein, Edmond T. Gonzales, Mark P. Gorman, Michael D. Green, David Greenberg, Andreas H. Groll, Charles Grose, Duane J. Gubler, Roberto A. Guerrero, Javier Nieto Guevara, Kathleen M. Gutierrez, Caroline Breese Hall, Scott B. Halstead, Shinjiro Hamano, Richard J. Hamill, Margaret R. Hammerschlag, I. Celine Hanson, Nada Harik, Rick E. Harrison, C. Mary Healy, Ulrich Heininger, Gloria P. Heresi, Peter W. Hiatt, Harry R. Hill, David C. Hilmers, Jill A. Hoffman, Ellis K.L. Hon, Margaret K. Hostetter, Peter J. Hotez, Walter T. Hughes, Kristina G. Hulten, David A. Hunstad, Eugene S. Hurwitz, W. Charles Huskins, David Y. Hyun, Mary Anne Jackson, Michael R. Jacobs, Richard F. Jacobs, Jenifer L. Jaeger, Ravi R. Jhaveri, Samantha Johnston, Maureen M. Jonas, Meena R. Julapalli, Edward L. Kaplan, Sheldon L. Kaplan, Saul J. Karpen, Gregory L. Kearns, Margaret A. Keller, Chaouki K. Khoury, Martin B. Kleiman, Jerome O. Klein, Mark W. Kline, Katherine M. Knapp, Heidi M. Kokkinos, Peter J. Krause, Leonard R. Krilov, Paul Krogstad, Thomas L. Kuhls, Xavier de Lamballerie, Timothy R. La Pine, Matthew B. Laurens, Charles T. Leach, Robert J. Leggiadro, Diana R. Lennon, Carolyn Lentzsch-Parcells, Eric Leroy, Chi Wai Leung, Moise L. Levy, Karen Lewis, Phyllis T. Losikoff, Timothy Edward Lotze, Adam W. Lowry, Timothy Mailman, Susan A. Maloney, Laurene Mascola, Edward O. Mason, David O. Matson, Alan N. Mayer, Marc A. Mazade, James B. McAuley, George H. McCracken, Kenneth McIntosh, James E. McJunkin, Kelly T. McKee, Rima L. McLeod, Valérie A. McLin, Maria José Soares Mendes-Giannini, Wayne M. Meyers, Marian G. Michaels, Ian C. Michelow, Vladana Milisavljevic, Aaron M. Miller, James N. Miller, Marjorie J. Miller, James N. Mills, Linda L. Minnich, Ann Moran, James R. Murphy, Pratip K. Nag, Joseph J. Nania, James P. Nataro, Roger K. Nicome, Karin Nielsen-Saines, Delma J. Nieves, Richard A. Oberhelman, Theresa J. Ochoa, Christopher M. Oermann, Alina Olteanu, Gary D. Overturf, Debra L. Palazzi, Pia S. Pannaraj, Janak A. Patel, Christian C. Patrick, Evelyn A. Paysse, Norma Pérez, C.J. Peters, William A. Petri, Brandon Lane Phillips, Larry K. Pickering, Joseph F. Piecuch, Francisco P. Pinheiro, Stanley A. Plotkin, Scott L. Pomeroy, Alice Pong, David L. Pugatch, Joan S. Purcell, Ramya Ramraj, Jack S. Remington, Carina A. Rodriguez, José R. Romero, Benjamin A. Ross, Lawrence A. Ross, Judith L. Rowen, Charles E. Rupprecht, Xavier Sáez-Llorens, Lisa Saiman, Joseph W. St. Geme, Pablo J. Sánchez, Laura A. Sass, Carlos A. Sattler, Danica J. Schulte, Gordon E. Schutze, Filiz O. Seeborg, Eugene D. Shapiro, Nina L. Shapiro, William T. Shearer, Ziad M. Shehab, Jerry L. Shenep, W. Donald Shields, Robyn Shimizu-Cohen, Stanford T. Shulman, Constantine Simos, Arnold L. Smith, Jason S. Soden, Mary Allen Staat, Jeffrey R. Starke, Barbara W. Stechenberg, William J. Steinbach, Paul G. Steinkuller, E. Richard Stiehm, Stephanie H. Stovall, Jeffrey Suen, Ciro V. Sumaya, Andrea P. Summer, Douglas S. Swanson, Tina Q. Tan, Herbert B. Tanowitz, Robert B. Tesh, Philip Toltzis, Richard G. Topazian, Michael F. Tosi, Amelia P.A. Travassos da Rosa, Theodore F. Tsai, Tulio A. Valdez, Jesus G. Vallejo, John A. Vanchiere, Pedro Fernando da C. Vasconcelos, Jorge J. Velarde, James Versalovic, Ellen R. Wald, Douglas S. Walsh, Edward E. Walsh, Thomas J. Walsh, Mark A. Ward, Richard L. Ward, Michelle Weinberg, Robert C. Welliver, J. Gary Wheeler, A. Clinton White, Suzanne Whitworth, Bernhard L. Wiedermann, Natalie Williams-Bouyer, Murray Wittner, Charles R. Woods, Kimberly G. Yen, Ram Yogev, Edward J. Young, Theoklis E. Zaoutis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::776f30bfa13237303e7ea9778675d741
https://doi.org/10.1016/b978-1-4160-4044-6.50004-2

Painless mobile mass on the dorsum of the foot of a 3-month-old girl

Autor: Edwina M. Popek, Denise W. Metry, Meena R. Julapalli, Paul K. Minifee, Julie S. Prendiville, Anne W. Lucky

Publikováno v: Pediatric dermatology. 23(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef9584959d1caab0d71bce29929ad34
https://pubmed.ncbi.nlm.nih.gov/17014656