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Educating health-care professionals about genetics and genomics.

Autor: Guttmacher, Alan E.¹ guttmach@mail.nih.gov, Porteous, Mary E.², McInerney, Joseph D.³

Publikováno v: Nature Reviews Genetics. Feb2007, Vol. 8 Issue 2, p151-157. 7p. 1 Diagram.

Contributors

Autor: Bennardo, Francesco, Chow, Ming Fai, Engels, Jan Frederick, Goodsell, David S., Halpern, Georges M., Kayser, Oliver, Ullrich, Oliver, Bernhardt, Rita, Bornscheuer, Uwe, Cautherley, George, Chakrabarty, Ananda, Charpentier, Emmanuelle, Chow, King, Clark, David P., Demain, Arnold L., Dingermann, Theodor, Dübel, Stefan, Friedrich, Roland, Fromherz, Peter, Fuchs, Dietmar, Fukui, Saburo, Gänßler, Karla, Ghisalba, Oreste, Grunz, Horst, Halpern, Georges, Hempel, Albrecht, Hew, Choy-L., Hillenkamp, Franz, Hock, Bertold, Holtzhauer, Martin, Huntoon, Jon, Kempken, Frank, Kiderlen, Albrecht F., Klenz, Uwe, Law, Louiza, Lewen-Dörr, Inca, Lim, Hwa A., Ludwig-Müller, Jutta, Martin, Stephan, Matter, Alex, Meyer, Wolfgang, van Montagu, Marc, Müller-Esterl, Werner, Niessner, Reinhard, Pauly, Susanne, Polle, Jürgen, Rapoport, Tom A., Reuss, Matthias, Reski, Ralf, Sahm, Hermann, Scheller, Frieder W., Schmidt, Steffen, Schulz, Olaf, Sprenger, Georg, Stewart, Eric, Strobel, Gary, Stüber, Kurt, Tanaka, Atsuo, Trau, Dieter, Tuschl, Thomas, Wadsworth, Larry, Wan, Terence S.M., Wang, Zeng-yu, Wellmann, Eckhard, Wink, Michael, Wolf, Dieter, Zastrow, Leonhard, Aehle, Wolfgang, Arber, Werner, Barnum, Susan R., Beier, Hildburg, Ian, Billings, John, Chakrabarty, Ananda M., Chan, Cangel Pui Yee, Coutelle, Charles, Diamond, Jared M., Djerassi, Carl, Endo, Akira, Feldmeier, Herrmann, Fischer, Ernst Peter, Gänzle, Michael, Geißler, Erhard, Greenfield, Susan A., Guttmacher, Alan E., Haass, Christian, Hatzak, Frank, Jeffreys, Sir Alec, Kekulé, Alexander, Kinoshita, Shukuo, Korsman, Stephen, Larrick, James W., Ligler, Frances S., MacDiarmid, Alan, Paquet, Dominik, Perlitz, Uwe, Potrykus, Ingo, Preiser, Wolfgang, Rainer, Timothy H., Reich, Jens, Richardson, Michael K., Rokem, Stefan, Rossbach, Michael, Sankula, Sujatha, Schatz, Gottfried, Spelsberg, Gerd, Strobel, Gary A., Tautz, Jurgen, Wandrey, Christian, Wei, Fuwen, Whiteson, Katrine, Wilmut, Ian, Winterhalter, Christoph, Wolf, Eckhard, Woodruff, Boyd, Yang, Daichang, Zinke, Holger

Publikováno v: In Biotechnology for Beginners Edition: Third Edition. 2023:xiii-xiv

Chapter 49 - Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)

Autor: Guttmacher, Alan E., Marchuk, Douglas A., Trerotola, Scott O., Pyeritz, Reed E.

Publikováno v: In Emery and Rimoin's Principles and Practice of Medical Genetics 2013:1-18

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Autor: Johnston, Jennifer J., Peters, Kathryn F., Holmes, Lewis B., Aughton, David J., Mazzanti, Laura, Leppig, Kathleen A., David, Albert, MacLeod, Patrick, Curry, Cynthia J., McCann, Emma, McDonald, Marie T., Graham, John M., Grange, Dorothy K., Hannibal, Mark C., Killoran, Christina, Booth, Carol, Abbott, Margaret H., Lin, Angela E., Flannery, David B., Marcelis, Carlo, Dinulos, Mary Beth, Turner, Joyce T., Bamshad, Michael J., Hennekam, RaoulC.M., Manchester, David K., Aylsworth, Arthur S., Fox, Michelle A., Olivos-Glander, Isabelle, Hoyme, H. Eugene, Guttmacher, Alan E., Elson, Emma, Henn, Wolfram

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a tru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17307e8215a4a9fe2ad8382e3c8c8ae8