242P Clinical outcomes in patients (pts) with HR+/HER2− early breast cancer (EBC) by prior systemic treatment (tx): A subgroup analysis of the NATALEE trial von McAndrew, N.P., Chia, S., Puglisi, F., Bardia, A., Peron, Y. Izarzugaza, Schem, C., Xu, B., Le Du, F., Sharma, P., Afenjar, K., Akdere, M., Gonzalez, J.P. Zarate, Chattar, Y., Fasching, P.A.

Volltext

VP3-2023: Health-related quality of life (HRQoL) in the phase III NATALEE study of adjuvant ribociclib (RIB) plus a nonsteroidal aromatase inhibitor (NSAI) vs NSAI alone in patient... von Fasching, P.A., Slamon, D., Nowecki, Z., Kukielka-Budny, B.D., Stroyakovskiy, D., Yardley, D., Huang, C., Chan, A., Chia, S., Martin, M., Rugo, H.S., Loi, S., Hurvitz, S.A., Untch, M., Afenjar, K., Fresco, R., Danyliv, A., Ferrusi, I., Li, Z., Hortobagyi, G.N.

Volltext

Results from TRIO030, a pre-surgical tissue-acquisition study to evaluate molecular alterations in human breast cancer tissue following short-term exposure to the androgen receptor... von Chen, H.-W., Von Euw, E., Millan, P., Fresco, R., Carrez, S., Afenjar, K., Fung, H., Burton, M., Santiago, A., Guzman, R., Villalobos, I., Press, M., Eiermann, W., Slamon, D.

Volltext

168P - Results from TRIO030, a pre-surgical tissue-acquisition study to evaluate molecular alterations in human breast cancer tissue following short-term exposure to the androgen r... von Chen, H.-W., Von Euw, E., Millan, P., Fresco, R., Carrez, S., Afenjar, K., Fung, H., Burton, M., Santiago, A., Guzman, R., Villalobos, I., Press, M., Eiermann, W., Slamon, D.

Volltext

168PResults from TRIO030, a pre-surgical tissue-acquisition study to evaluate molecular alterations in human breast cancer tissue following short-term exposure to the androgen rece... von Chen, H-W, Von Euw, E, Millan, P, Fresco, R, Carrez, S, Afenjar, K, Fung, H, Burton, M, Santiago, A, Guzman, R, Villalobos, I, Press, M, Eiermann, W, Slamon, D

Volltext

113MO NATALEE update: Safety and treatment (tx) duration of ribociclib (RIB) + nonsteroidal aromatase inhibitor (NSAI) in patients (pts) with HR+/HER2− early breast cancer (EBC) von Barrios, C.H., Harbeck, N., Hortobagyi, G.N., O'Shaughnessy, J., Huang, C-S., Jimenez, M. Martin, Juric, D., Pistilli, B., Xu, B., De Laurentiis, M., Untch, M., Afenjar, K., Sum, E., Li, Z., Bolotova, N., Chiang, W., Rugo, H.S.

Volltext

6584 A phase III study of CapeOx +/− lapatinib in HER2 positive locally-advanced/metastatic upper gastrointestinal adenocarcinoma: interim safety results von Hecht, J, Bang, Y, Sobrero, A, Elme, A, Patel, G, Park, J, Kemner, A, Afenjar, K, Koehler, M

Volltext

620PDPROTON PUMP INHIBITOR (PPIS) THERAPY MAY IMPAIR CAPECITABINE (CAPE) EFFICACY IN METASTATIC GASTROESOPHAGEAL CANCER (GEC), RESULTS FROM THE TRIO-013/LOGIC TRIAL von Chu, M.P., Hecht, J.R., Slamon, D., Fontaine, A., King, K., Koski, S., Mulder, K., Hiller, J. Price, Scarfe, A., Spratlin, J., Bang, Y., Hoff, P.M., Sobrero, A., Qin, S., Afenjar, K., Houe, V., Huang, Y.J., Khan-Wasti, S., Chua, N., Sawyer, M.

Volltext

Proton Pump Inhibitor (Ppis) Therapy May Impair Capecitabine (Cape) Efficacy in Metastatic Gastroesophageal Cancer (Gec), Results from the Trio-013/Logic Trial von Chu, M.P., Hecht, J.R., Slamon, D., Fontaine, A., King, K., Koski, S., Mulder, K., Hiller, J. Price, Scarfe, A., Spratlin, J., Bang, Y., Hoff, P.M., Sobrero, A., Qin, S., Afenjar, K., Houe, V., Huang, Y.J., Khan-Wasti, S., Chua, N., Sawyer, M.

Volltext

Results of a phase I / II and pharmacokinetic study of vinflunine (VFL) in combination with cisplatin (CDDP) for primary treatment of advanced non-small cell lung cancer (NSCLC) von Ramlau, R., Souquet, P.-J., Sun, X., Lopez-Vivanco, G., Afenjar, K., Colin, C., Krzakowski, M.

Volltext

Results of a phase I / II and pharmacokinetic study of vinflunine (VFL) in combination with cisplatin (CDDP) for primary treatment of advanced non-small cell lung cancer (NSCLC) von Ramlau, R., Souquet, P.-J., Sun, X., Lopez-Vivanco, G., Afenjar, K., Colin, C., Krzakowski, M.

Volltext

P-566 Vinflunine (VFL) in combination with carboplatin (CBDCA) for treatment of advanced non-small cell lung cancer (NSCLC) in chemonaive patients (pts): Phase I and pharmacokineti... von Robinet, G., Afenjar, K., Gouva, S., Planchard, D., Zorza, G., Tourani, J.

Volltext

Lapatinib in Combination With Capecitabine Plus Oxaliplatin in Human Epidermal Growth Factor Receptor 2-Positive Advanced or Metastatic Gastric, Esophageal, or Gastroesophageal Ade... von Hecht, J Randolph, Bang, Yung-Jue, Qin, Shukui K, Chung, Hyun C, Xu, Jianming M, Park, Joon O, Jeziorski, Krzysztof, Shparyk, Yaroslav, Hoff, Paulo M, Sobrero, Alberto, Salman, Pamela, Li, Jin, Protsenko, Svetlana A, Wainberg, Zev A, Buyse, Marc, Afenjar, Karen, Houé, Vincent, Garcia, Agathe, Kaneko, Tomomi, Huang, Yingjie, Khan-Wasti, Saba, Santillana, Sergio, Press, Michael F, Slamon, Dennis

Volltext

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders von Wolff, Markus, Johannesen, Katrine M, Hedrich, Ulrike B S, Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothée, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gérard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stéphane, Miranda, Maria J, Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P, Mancini, Grazia, Biskup, Saskia, Hörtnagel, Konstanze, Döcker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Baumeister, Friedrich M, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G, Arndt, Daniel H, Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brückner, Reinhard, Pietz, Joachim, Golla, Günther, Jillella, Dinesh, Linnet, Karen M, Charles, Perrine, Moog, Ute, Õiglane-Shlik, Eve, Mantovani, John F, Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L, Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R, Krägeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Møller, Rikke S

Volltext

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects von Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François

Volltext

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations von PASSEMARD, S, TITOMANLIO, L, GUIMIOT, F, HYON, C, ISIDOR, B, MEGARBANE, A, MOOG, U, ODENT, S, HERNANDEZ, K, POUVREAU, N, SCALA, I, SCHAER, M, ELMALEH, M, GRESSENS, P, GERARD, B, VERLOES, A, AFENJAR, A, ALESSANDRI, J.-L, ANDRIA, G, BILLETTE DE VILLEMEUR, T, BOESPFLUG-TANGUY, O, BURGLEN, L, DEL GIUDICE, E

Volltext

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature von Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

Volltext

Defining the phenotypic spectrum of SLC6A1 mutations von Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Saint Martin, Anne, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen‐Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

Volltext

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling von Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

Volltext

PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals von Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P, Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma

Volltext