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pro vyhledávání: '"Lacuesta, Maricarr Pamela M"'
Autor:
Guevara, Bryan Edgar K, Hsu, Chao-Kai, Liu, Lu, Feast, Alice, Alabado, Karen Lee P, Lacuesta, Maricarr Pamela M, Lee, Julia Yu-Yun, McGrath, John A
Publikováno v:
Guevara, B E K, Hsu, C-K, Liu, L, Feast, A, Alabado, K L P, Lacuesta, M P M, Lee, J Y-Y & McGrath, J A 2016, ' Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti ', The Australasian journal of dermatology, vol. 57, no. 2, pp. 150–153 . https://doi.org/10.1111/ajd.12407
Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic dele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2761::139a816533e4273b54e95072ae9757d0
https://kclpure.kcl.ac.uk/ws/files/55915027/IP_paper_AJD_accepted_version.pdf
https://kclpure.kcl.ac.uk/ws/files/55915027/IP_paper_AJD_accepted_version.pdf
Publikováno v:
In Treatment of Skin Disease Edition: Fourth Edition. 2014:260-262
Akademický článek
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Autor:
Abdullah, Anthony, Admani, Shehla, Ahmed, Imtiaz, Hammadi, Anwar Al, Allen, Caroline P., Allen, Robert A., Ameen, Mahreen, Amini, Sadegh, Anderson, Bryan E., Anhalt, Grant J., Anyanwu, Cynthia O., Aouthmany, Mouhammad, Aslam, Arif M., Bain, E. Eugene, III, Baker, Donald J., Bakkour, Waseem, Banach, David, Baran, Robert L., Barkham, Melissa C., Basu, Tanya N., Bello, Ysabel M., Benton, Emma, Bergfeld, Wilma F., Berkowitz, Eric, Berman, Brian, Bernhard, Jeffrey D., Berth-Jones, John, Bewley, Anthony, Bhate, Chinmoy, Bhatia, Bhavnit K., Blume, Jonathan E., Brauner, Gary J., Brodell, Robert T., Brown, Marc D., Burd, Robert M., Burdick, Anne E., Burge, Susan M., Callen, Jeffrey P., Camacho, Ivan D., Campbell, Caren, Caplivski, Daniel, Cappell, Mitchell S., Carucci, John A., Casey, Genevieve A., Castelo-Soccio, Leslie, Chadwick, Preston W., Chalmers, Robert J.G., Chan, Loi-Yuen, Chan, Lawrence S., Chayavichitsilp, Pamela, Chen, Jennifer K., Child, Fiona J., Chu, Anthony C., Clayton, Timothy H., Cohen, Steven R., Cooper, Elizabeth A., Cooper, Susan M., Coulson, Ian, Cowper, Shawn E., Craven, Nicholas M., Creamer, Daniel, Cruz, Ponciano D., Jr, Cunningham, Carol, Cusack, Carrie Ann R., Davis, Mark D.P., Davis, Rosie, Dawe, Robert S., D'Cruz, David P., de Berker, David, DeHoratius, Danielle M., Desai, Nisha C., DiGiovanna, John J., Doctoroff, Alexander, Eichenfield, Lawrence F., Eisen, Drore, Eke, Ure, Elston, Dirk M., Emanuel, Patrick O.M., Emer, Jason J., Eminger, Lindsay A., Ensanyat, Shaheen H., Falabella, Anna F., Fanelli, Matthew, Farquharson, Nina R., Farsani, Terry T., Fett, Nicole, Fiandeiro, Pamela, Finlay, Andrew Y., Firoz, Bahar F., Firoz, Elnaz F., Fitzpatrick, James E., Flischel, Amy E., Freedman, Derek, Friedlander, Philip, Friedman, Adam, Fuchs, Brian S., Fukaya, Eri, Fuller, L. Claire, Gach, Joanna E., Galan, Anjela, Gamboni, Sarah E., Gardner, Loma S., Garg, Amit, Garza, Reed M., Gelfand, Joel M., Gelmetti, Carlo, Goldberg, Leonard H., Goodfield, Mark J.D., Gordon, Marsha L., Gordon, Rachel A., Graham-Brown, Robin A.C., Grattan, Clive E.H., Greaves, Malcolm W., Green, Justin J., Grelck, Kurt W., Griffiths, Christopher E.M., Gropper, Charles A., Gropper, Jaime R., Guidry, Jacqueline A., Gupta, Aditya K., Hadi, Ahmed S., Hadi, Suhail M., Hairston, Bethany R., Halpern, Analisa Vincent, Halverstam, Caroline, Handfield-Jones, Susan E., Harrison, Shannon, Heagerty, Adrian H.M., Hebert, Adelaide A., Helms, Stephen E., Hexsel, Camile L., Hexsel, Doris M., Heymann, Warren R., Higgins, Elisabeth M., High, Whitney A., Hönigsmann, Herbert, Horenstein, Marcelo G., Hui, Andrea, Humphreys, Frances, Huo, Ran, Ibbotson, Sally H., Ibrahim, Sherrif F., Ilchyshyn, Andrew, Jablonska, Stefania, Jacobe, Heidi T., James, William D., Javed, Aysha, Jemec, Gregor B.E., Johnston, Graham A., Jones, Stephen K., Junkins-Hopkins, Jacqueline M., Jurecka, Wolfgang, Kaffenberger, Jessica A., Kanelleas, Antonios, Kasparis, Christos, Katugampola, Ruwani P., Katz, Bruce E., Keefe, Martin, Khan, Murtaza, Khorasani, Hooman, Kia, Kevin F., Kihiczak, George G., Kim, Ellen J., Kirby, Brian, Kirby, Joslyn S., Klein, Rachel S., Kleydman, Kate, Kluk, Justine, Knowles, Sandra R., Koch, Dimitra, Koo, John Y.M., Kopp, Sandra A., Korman, Neil J., Kraemer, Kenneth H., Krafchik, Bernice R., Krakowski, Andrew C., Krishnamurthy, Karthik, Kvernebo, Knut, Lacuesta, Maricarr Pamela M., Landero, James Lee, Lam, Charlene, Langtry, James A.A., Larian, Amir A., Lawlor, Frances, Lawrence, Clifford M., Lawrence, Naomi, Lebwohl, Mark G., Lebwohl, Oscar, Lee, Robert E., Lehman, Julia S., Lessin, Stuart R., Levitt, Jacob O., Lewis, Fiona M., Loosemore, Michael P., Luger, Thomas A., Lushniak, Boris D., Lyon, Calum C., Macedo, Chrystalla, Mailhot, Jeffrey, Majewski, Slawomir, Mallett, Richard B., Manders, Steven M., Mann, Ranon, Mansouri, Yasaman, Margolis, David J., Markoff, Sarah, Markowitz, Orit, Marmur, Ellen S., Marraiki, Najat A.Y., Marsden, Jeremy R., Martin-Clavijo, Agustin, Maruthappu, Thiviyani, Mays, Rana Majd, McCall, Calvin O., McDonagh, Andrew J.G., McElligott, Sean C., Merika, Eirini E., Micali, Giuseppe, Millard, Leslie G., Millett, Christian R., Milligan, Alex, Mimouni, Daniel, Mirowski, Ginat W., Molin, Sonja, Mookerjee, Anuradha Lele, Morales-Burgos, Adisbeth, Morison, Warwick L., Mørk, Cato, Morton, Laurel M., Motley, Richard J., Mowbray, Megan, Muldoon, Eavan G., Muncaster, Anna E., Murakawa, George J., Murase, Jenny E., Murdoch, Michele E., Nalluri, Rajani, Needham, Glen R., Neldner, Kenneth H., Newell, Glenn C., Newsham, John, Newton-Bishop, Julia, Nixon, Rosemary L., Nousari, Carlos H., Ogden, Stephanie, Owen, Caroline M., Owen, Cindy E., Pacha, Omar, Palmer, Roy A., Parish, Jennifer L., Parish, Lawrence Charles, Patel, Gopi, Peck, Gary L., Pereira, Frederick A., Perkins, William, Perlis, Clifford S., Petersen, Erik T., Phelps, Robert G., Phillips, Tania J., Piraccini, Bianca Maria, Poh-Fitzpatrick, Maureen B., Porcu, Pierluigi, Powell, James B., Powers, Jennifer Gloeckner, Prok, Lori D., Ratnavel, Ravi, Recica, Hilmi F., Regan, Thomas D., Regula, Christie G., Reutemann, Patricia, Revuz, Jean, Reynolds, Rachel V., Richard, Elisabeth G., Richard, Gabriele, Rigel, Darrell S., Robles, Wanda Sonia, Romano, Michael, Rook, Alain H., Rosen, Ted, Payne, Christopher Rowland, Rustin, Malcolm H.A., Ruzicka, Thomas, Salvaggio, Heather L., Samimi, Sara, Sanchez, Miguel, Schachner, Lawrence A., Schadt, Courtney R., Scheinfeld, Noah, Schlosser, Bethanee J., Schnur, Rhonda E., Schofield, Olivia M.V., Schwartz, Robert A., Scott, Michelle, Selkin, Bryan A., Seymour, Jamie, Shea, Christopher R., Shear, Neil H., Shim, Tang Ngee, Shimizu, Hiroshi, Sidhu, Harleen K., Silverman, Robert A., Simpson, Fiona C., Singer, Elisha, Sladden, Christopher, Sladden, Michael, Smith, Janellen, Somani, Najwa, Sommer, Lacy L., Soon, Christine, Soter, Nicholas A., Spencer, James M., Staughton, Richard C.D., Stechschulte, Sarah A., Sterling, Jane C., Sunderkötter, Cord, Szczecinska, Weronika, Taibjee, Saleem M., Tallon, Ben, Tamura, Deborah, Tan, Eunice, Tang, William Y-M, Telfer, Nicholas R., Thiers, Bruce H., Thornton, Cody R., Tobin, Anne-Marie, Tomson, Nevianna, Torgerson, Rochelle R., Tosti, Antonella, Tsatsou, Fragkiski, Tsuji-Abe, Yukiko, Tucker, William F.G., Turker, Dana, Tyring, Stephen K., Unger, Robin H., Unger, Walter P., van de Kerkhof, Peter C.M., Van Voorhees, Abby S., Venning, Vanessa, Viera, Martha, Vittorio, Carmela C., Vivehanantha, Sivanie, Vleugels, Ruth Ann, Waldorf, Heidi A., Wallengren, Joanna, Walls, Brooke M., Wanat, Karolyn A., Weichert, Gabriele, Weidmann, Anja K., Weinberg, Jeffrey M., Wentworth, Ashley B., Werth, Victoria P., Wesley, Carlos K., White, Lucile E., Whittaker, Sean J., Wiener, Adam H., Wilkin, Jonathan K., Wilkin, Nathaniel K., Williams, Jason D.L., Wiss, Karen, Witkowski, Joseph A., Wong, Henry K., Wong Millsop, Jillian W., Wright, Andrew L., Wriston, Cooper C., Wulkan, Adam, Zaenglein, Andrea L., Zaghloul, Sameh S., Zaki, Irshad, Zeichner, Joshua A., Zeitouni, Nathalie, Zone, John J., Zouboulis, Christos C.
Publikováno v:
In Treatment of Skin Disease Edition: Fourth Edition. 2014:xiii-xxiv