Zobrazeno 1 - 10
of 802
pro vyhledávání: '"de la Chapelle Albert"'
Autor:
Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 56 (2012)
Abstract Background Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been mole
Externí odkaz:
https://doaj.org/article/ceb037942f97469bb8a877081ddad7ba
Autor:
Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 74 (2011)
Abstract Background Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cub
Externí odkaz:
https://doaj.org/article/f1d40d53cdb541e2bc4f3c8bd0fc5e4c
Autor:
Bill, Marius, Mrózek, Krzysztof, Kohlschmidt, Jessica, Eisfeld, Ann-Kathrin, Walker, Christopher J., Nicolet, Deedra, Papaioannou, Dimitrios, Blachly, James S., Orwick, Shelley, Carroll, Andrew J., Kolitz, Jonathan E., Powell, Bayard L., Stone, Richard M., de la Chapelle, Albert, Byrd, John C., Bloomfield, Clara D.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2020 Oct . 117(42), 26340-26346.
Externí odkaz:
https://www.jstor.org/stable/26970413
Autor:
Liyanarachchi, Sandya, Gudmundsson, Julius, Ferkingstad, Egil, He, Huiling, Jonasson, Jon G., Tragante, Vinicius, Asselbergs, Folkert W., Xu, Li, Kiemeney, Lambertus A., Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hjartarson, Hannes, Hrafnkelsson, Jon, Sturgis, Erich M., Brock, Pamela, Nabhan, Fadi, Thorleifsson, Gudmar, Ringel, Matthew D., Stefansson, Kari, de la Chapelle, Albert
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2020 Mar . 117(11), 5997-6002.
Externí odkaz:
https://www.jstor.org/stable/26929363
Autor:
Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, Jenkins, Mark A. *
Publikováno v:
In The Lancet Oncology July 2021 22(7):1014-1022
Autor:
Walker, Christopher J. *, Mrózek, Krzysztof, Ozer, Hatice Gulcin, Nicolet, Deedra, Kohlschmidt, Jessica, Papaioannou, Dimitrios, Genutis, Luke K., Bill, Marius, Powell, Bayard L., Uy, Geoffrey L., Kolitz, Jonathan E., Carroll, Andrew J., Stone, Richard M., Garzon, Ramiro, Byrd, John C., Eisfeld, Ann-Kathrin *, de la Chapelle, Albert *, Bloomfield, Clara D. *
Publikováno v:
In Blood Advances 9 March 2021 5(5):1474-1482
Autor:
Hampel, Heather, Pearlman, Rachel, de la Chapelle, Albert, Pritchard, Colin C., Zhao, Weiqiang, Jones, Dan, Yilmaz, Ahmet, Chen, Wei, Frankel, Wendy L., Suarez, Adrian A., Cosgrove, Casey, Backes, Floor, Copeland, Larry, Fowler, Jeffrey, O'Malley, David, Salani, Ritu, McElroy, Joseph P., Stanich, Peter P., Goodfellow, Paul, Cohn, David E.
Publikováno v:
In Gynecologic Oncology January 2021 160(1):161-168
Autor:
He, Huiling, Li, Wei, Liyanarachchi, Sandya, Volinia, Stefano, Calin, George A., Liu, Chang-gong, Suster, Saul, Kloos, Richard T., Croce, Carlo M., de la Chapelle, Albert
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2005 Dec . 102(52), 19075-19080.
Externí odkaz:
https://www.jstor.org/stable/4152567
Autor:
Tanner, Stephan M., Li, Zhongyuan, Perko, James D., Öner, Cihan, Çetin, Mualla, Altay, Çiğdem, Yurtsever, Zekiye, David, Karen L., Faivre, Laurence, Ismail, Essam A., Gräsbeck, Ralph, de la Chapelle, Albert
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2005 Mar . 102(11), 4130-4133.
Externí odkaz:
https://www.jstor.org/stable/3374878
Autor:
Roschke, Anna V., Lababidi, Samir, Tonon, Giovanni, Gehlhaus, Kristen S., Bussey, Kimberly, Weinstein, John N., Kirsch, Ilan R., de la Chapelle, Albert
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2005 Feb . 102(8), 2964-2969.
Externí odkaz:
https://www.jstor.org/stable/3374729