Bibliotecas PUC-SP - Busca Integrada

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

por Nellist, Mark, Sancak, Őzgür, Goedbloed, Miriam, Adriaans, Alwin, Wessels, Marja, Maat-Kievit, Anneke, Baars, Marieke, Dommering, Charlotte, van den Ouweland, Ans, Halley, Dicky
Publicado 2008

Functional characterisation of the TSC1–TSC2 complex to assess multiple <it>TSC2 </it>variants identified in single families affected by tuberous sclerosis complex

por Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky
Publicado en BMC Medical Genetics (2008-02-01)

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

por Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Publicado 2009

Identification of a region required for TSC1 stability by functional analysis of <it>TSC1 </it>missense mutations found in individuals with tuberous sclerosis complex

por den Dunnen Johan T, Povey Sue, Ekong Rosemary, Sampson Julian, Kwiatkowski David, Hoogeveen-Westerveld Marianne, Mozaffari Melika, van den Ouweland Ans, Halley Dicky, Nellist Mark
Publicado en BMC Medical Genetics (2009-09-01)

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings

por Bronsveld, Inez, Mekus, Frauke, Bijman, Jan, Ballmann, Manfred, de Jonge, Hugo R., Laabs, Ulrike, Halley, Dicky J., Ellemunter, Helmut, Mastella, Gianni, Thomas, Stephen, Veeze, Henk J., Tümmler, Burkhard
Publicado 2001

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

por Vries, Bert B A de, Robinson, Hazel, Stolte-Dijkstra, Irene, Gi, Cecil V Tjon Pian, Dijkstra, Piet F, Doorn, Jaap van, Halley, Dicky J J, Oostra, Ben A, Turner, Gillian, Niermeijer, Martinus F
Publicado 1995

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

por Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.
Publicado 1995

Signaling through CD28 and CTLA-4 controls two distinct forms of T cell anergy

por Wells, Andrew D., Walsh, Matthew C., Bluestone, Jeffrey A., Turka, Laurence A., Manjunath, N., Shankar, P., Wan, J., Weninger, W., Crowley, M.A., Hieshima, K., Springer, T.A., Fan, X., Shen, H., Lieberman, J., von Andrian, U.H., Billaut-Mulot, Odile, Cocude, Cécile, Kolesnitchenko, Vincent, Truong, Marie-José, Chan, Edward K.L., Hachula, Eric, de la Tribonnière, Xavier, Capron, André, Bahr, George M., Woessner, J. Frederick, Herz, Joachim, Strickland, Dudley K., Robertson, Michael J., Merchant, Juanita L., Sallusto, Federica, Lanzavecchia, Antonio, Febbraio, Maria, Hajjar, David P., Silverstein, Roy L., Krieger, Monty, Ashkenas, John, Osanai, Tomohiro, Tanaka, Makoto, Kamada, Takaatsu, Nakano, Takao, Takahashi, Koki, Okada, Satoko, Sirato, Kenichi, Magota, Koji, Kodama, Shiho, Okumura, Ken, Uehara, Takahiro, Bléry, Mathieu, Kang, Dong-Won, Chen, Ching-Cheng, Ho, Le Hong, Gartland, G. Larry, Liu, Fu-Tong, Vivier, Eric, Cooper, Max D., Kubagawa, Hiromi, Cuff, Carolyn A., Kothapalli, Devashish, Azonobi, Ijeoma, Chun, Sam, Zhang, Yuanming, Belkin, Richard, Yeh, Christine, Secreto, Anthony, Assoian, Richard K., Rader, Daniel J., Puré, Ellen, Pugh-Bernard, Aimee E., Silverman, Gregg J., Cappione, Amedeo J., Villano, Michael E., Ryan, Daniel H., Insel, Richard A., Sanz, Iñaki, Kim, Minsoo, Javed, Najma H., Yu, Jun-Ge, Christofi, Fievos, Cooke, Helen J., Yamauchi, Toshimasa, Waki, Hironori, Kamon, Junji, Murakami, Koji, Motojima, Kiyoto, Komeda, Kajuro, Miki, Hiroshi, Kubota, Naoto, Terauchi, Yasuo, Tsuchida, Atsuko, Tsuboyama-Kasaoka, Nobuyo, Yamauchi, Naoko, Ide, Tomohiro, Hori, Wataru, Kato, Shigeaki, Fukayama, Masashi, Akanuma, Yasuo, Ezaki, Osamu, Itai, Akiko, Nagai, Ryozo, Kimura, Satoshi, Tobe, Kazuyuki, Kagechika, Hiroyuki, Shudo, Koichi, Kadowaki, Takashi, Obici, Silvana, Feng, Zhaohui, Tan, Jianzhen, Liu, LiSen, Karkanias, George, Rossetti, Luciano, Mesri, Mehdi, Wall, Nathan R., Li, Jia, Kim, Richard W., Altieri, Dario C., Uchida, Naoyuki, Fujisaki, Tomoaki, Eaves, Allen C., Eaves, Connie J., Namkung, Yoon, Skrypnyk, Nataliya, Jeong, Myung-Jin, Lee, Taehoon, Lee, Myung-Shik, Kim, Hyung-Lae, Chin, Hemin, Suh, Pann-Ghill, Kim, Sung-Sook, Shin, Hee-Sup, Grossman, Douglas, Kim, Paul J., Blanc-Brude, Olivier P., Brash, Douglas E., Tognin, Simona, Marchisio, Pier Carlo, Altieri, Dario C., Lam, Jonathan, Nelson, Christopher A., Ross, F. Patrick, Teitelbaum, Steven L., Fremont, Daved H., Schmidt, Ann Marie, Yan, Shi Du, Yan, Shi Fang, Stern, David M., Fadok, Valerie A., Bratton, Donna L., Henson, Peter M., Reed, John C., Schwartz, Michael W., Salama, Alan D., Remuzzi, Giuseppe, Harmon, William E., Sayegh, Mohamed H., Ashkenas, John, Molyneux, David, Liu, Jie, Rothermund, Christy A, Ayala-Sanmartin, Jesus, Vishwanatha, Jamboor K, Kabine, Mostafa, El Kebbaj, M'hammed Saïd, Hafiani, Assia, Latruffe, Norbert, Cherkaoui-Malki, Mustapha, Lugli, Giovanni, Krueger, Jacqueline M, Davis, John M, Persico, Antonio M, Keller, Flavio, Smalheiser, Neil R, Park, Taesung, Yi, Sung-Gon, Kang, Sung-Hyun, Lee, SeungYeoun, Lee, Yong-Sung, Simon, Richard, Smolkin, Mark, Ghosh, Debashis, Gadiraju, Sashidhar, Vyhlidal, Carrie A, Leeder, J Steven, Rogan, Peter K, Orange, Jordan S., Geha, Raif S., Cannon, Steven B, Young, Nevin D, Suni, Maria A, Dunn, Holli S, Orr, Patricia L, Laat, Rian de, Sinclair, Elizabeth, Ghanekar, Smita A, Bredt, Barry M, Dunne, John F, Maino, Vernon C, Maecker, Holden T, Jolly, Kate, Lip, Gregory YH, Sandercock, Josie, Greenfield, Sheila M, Raftery, James P, Mant, Jonathan, Taylor, Rod, Lane, Deirdre, Lee, Kaeng Wai, Stevens, AJ, Ohsawa, Isao, Uehara, Yuki, Hashimoto, Sumiko, Endo, Morito, Fujita, Takayuki, Ohi, Hiroyuki, Ulukanligil, Mustafa, Seyrek, Adnan, Shidham, Vinod B, Chavan, Ashwini, Rao, R Nagarjun, Komorowski, Richard A, Asma, Zeenath, Morken, Tone, Riise, Trond, Moen, Bente, Hauge, Signe HV, Holien, Solrun, Langedrag, Anne, Pedersen, Svein, Saue, Inger Lise L, Seljebø, Guri M, Thoppil, Varughese, Gaisano, Herbert Y., Lutz, Manfred P., Leser, Juergen, Sheu, Laura, Lynch, Grit, Tang, Lan, Tamori, Yoshikazu, Trimble, William S., Salapatek, Anne Marie F., Bronsveld, Inez, Mekus, Frauke, Bijman, Jan, Ballmann, Manfred, de Jonge, Hugo R., Laabs, Ulrike, Halley, Dicky J., Ellemunter, Helmut, Mastella, Gianni, Thomas, Stephen, Veeze, Henk J., Tümmler, Burkhard, Schwarz, Karin, Simons, Matias, Reiser, Jochen, Saleem, Moin A., Faul, Christian, Kriz, Wihelm, Shaw, Andrey S., Holzman, Lawrence B., Mundel, Peter, Cornacchia, Flavia, Fornoni, Alessia, Plati, Anna Rita, Thomas, Alton, Wang, Yingcai, Inverardi, Luca, Striker, Liliane J., Striker, Gary E., Dixon, Dan A., Tolley, Neal D., King, Peter H., Nabors, L. Burt, McIntyre, Thomas M., Zimmerman, Guy A., Prescott, Stephen M., Olsen, Nancy J., Gu, Xiujing, Kovacs, William J.
Publicado 2001