A common pathomechanism in GMAP-210– and LBR-related diseases

por Wehrle, Anika, Witkos, Tomasz M., Schneider, Judith C., Hoppmann, Anselm, Behringer, Sidney, Köttgen, Anna, Elting, Mariet, Spranger, Jürgen, Lowe, Martin, Lausch, Ekkehart
Publicado 2018

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

por Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Publicado 2018

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

por Wehrle, Anika, Witkos, Tomasz M., Unger, Sheila, Schneider, Judith, Follit, John A., Hermann, Johannes, Welting, Tim, Fano, Virginia, Hietala, Marja, Vatanavicharn, Nithiwat, Schoner, Katharina, Spranger, Jürgen, Schmidts, Miriam, Zabel, Bernhard, Pazour, Gregory J., Bloch-Zupan, Agnes, Nishimura, Gen, Superti-Furga, Andrea, Lowe, Martin, Lausch, Ekkehart
Publicado 2019

Schimke immunoosseous dysplasia: defining skeletal features

por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado 2009

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

por Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F.
Publicado 2016