未登录 Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts Chabronova, Alzbeta; van den Akker, Guus G. H.; Meekels-Steinbusch, Mandy M. F.; Friedrich, Franziska; Cremers, Andy; Surtel, Don A. M.; Peffers, Mandy J.; van Rhijn, Lodewijk W.; Lausch, Ekkehart; Zabel, Bernhard; Caron, Marjolein M. J.; Welting, Tim J. M. 分享 收藏
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta Moosa, Shahida; Yamamoto, Guilherme L.; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sergio B.; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S.; Kim, Chong Ae; de Menezes, Hamilton Cabral; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval, Jr.; Bezerra Carniero, Tulio Canella; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Goekhan; Reintjes, Nadine; Altmueller, Janine; Nuernberg, Peter; Cavalcanti, Denise P.; Zabel, Bernhard; Warman, Matthew L.; Bertola, Debora R.; Wollnik, Bernd; Netzer, Christian 分享 收藏
The antiviral protein viperin regulates chondrogenic differentiation via CXCL10 protein secretion Steinbusch, Mandy M. F.; Caron, Marjolein M. J.; Surtel, Don A. M.; van den Akker, Guus G. H.; van Dijk, Paul J.; Friedrich, Franziska; Zabel, Bernhard; van Rhijn, Lodewijk W.; Peffers, Mandy J.; Welting, Tim J. M. 分享 收藏
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia 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, Juergen; Schmidts, Miriam; Zabel, Bernhard; Pazour, Gregory J.; Bloch-Zupan, Agnes; Nishimura, Gen; Superti-Furga, Andrea; Lowe, Martin; Lausch, Ekkehart 分享 收藏
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Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation Steinbusch, Mandy M. F.; Caron, Marjolein M. J.; Surtel, Don A. M.; Friedrich, Franziska; Lausch, Ekkehart; Pruijn, Ger J. M.; Verhesen, Wouter; Schroen, Blanche L. M.; van Rhijn, Lodewijk W.; Zabel, Bernhard; Welting, Tim J. M. 分享 收藏
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation Noonan综合征和RIT1突变患者的基因型和表型 Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Luettgen, Sabine; Aydin, Hatip; von Deimling, Florian; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Juliana Ballesta-Martinez, Maria; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerova, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin; Zenker, Martin 分享 收藏
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation Bohne, Florian; Langer, David; Martine, Ursula; Eider, Claudia S.; Cencic, Regina; Begemann, Matthias; Elbracht, Miriam; Buelow, Luzie; Eggermann, Thomas; Zechner, Ulrich; Pelletier, Jerry; Zabel, Bernhard Ulrich; Enklaar, Thorsten; Prawitt, Dirk 分享 收藏
Against all odds: blended phenotypes of three single-gene defects Li, Yong; Salfelder, Anika; Schwab, Karl Otfried; Gruenert, Sarah Catharina; Velten, Tanja; Luetjohann, Dieter; Villavicencio-Lorini, Pablo; Matysiak-Scholze, Uta; Zabel, Bernhard; Koettgen, Anna; Lausch, Ekkehart 分享 收藏
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Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model Pfirrmann, Thorsten; Emmerich, Denise; Ruokonen, Peter; Quandt, Dagmar; Buchen, Renate; Fischer-Zirnsak, Bjoern; Hecht, Jochen; Krawitz, Peter; Meyer, Peter; Klopocki, Eva; Stricker, Sigmar; Lausch, Ekkehart; Seliger, Barbara; Hollemann, Thomas; Reinhard, Thomas; Auw-Haedrich, Claudia; Zabel, Bernhard; Hoffmann, Katrin; Villavicencio-Lorini, Pablo 分享 收藏
C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia Olney, Robert C.; Prickett, Timothy C. R.; Espiner, Eric A.; Mackenzie, William G.; Duker, Angela L.; Ditro, Colleen; Zabel, Bernhard; Hasegawa, Tomonobu; Kitoh, Hiroshi; Aylsworth, Arthur S.; Bober, Michael B. 分享 收藏
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Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease Grasemann, Corinna; Schuendeln, Michael M.; Hoevel, Matthias; Schweiger, Bernd; Bergmann, Christoph; Herrmann, Ralf; Wieczorek, Dagmar; Zabel, Bernhard; Wieland, Regina; Hauffa, Berthold P. 分享 收藏
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development Unger, Sheila; Gorna, Maria W.; Le Bechec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Eldehart; Magnan, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafe, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea 分享 收藏
RNASE MRP IS A NOVEL REGULATOR OF ENDOCHONDRAL OSSIFICATION Caron, M. M.; Steinbusch, M.; Reicherter, K.; Mattijssen, S.; Surtel, D. A.; van Rhijn, L. W.; Pruijn, G. J.; Lausch, E.; Zabel, B.; Welting, T. J. 分享 收藏
Mutations in WNT1 Cause Different Forms of Bone Fragility Keupp, Katharina; Beleggia, Filippo; Kayserili, Hulya; Barnes, Aileen M.; Steiner, Magdalena; Semler, Oliver; Fischer, Bjoern; Yigit, Goekhan; Janda, Claudia Y.; Becker, Jutta; Breer, Stefan; Altunoglu, Umut; Gruenhagen, Johannes; Krawitz, Peter; Hecht, Jochen; Schinke, Thorsten; Makareeva, Elena; Lausch, Ekkehart; Cankaya, Tufan; Caparros-Martin, Jose A.; Lapunzina, Pablo; Temtamy, Samia; Aglan, Mona; Zabel, Bernhard; Eysel, Peer; Koerber, Friederike; Leikin, Sergey; Garcia, K. Christopher; Netzer, Christian; Schoenau, Eckhard; Ruiz-Perez, Victor L.; Mundlos, Stefan; Amling, Michael; Kornak, Uwe; Marini, Joan; Wollnik, Bernd 分享 收藏
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Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution Jackson, Gail C.; Mittaz-Crettol, Laureane; Taylor, Jacqueline A.; Mortier, Geert R.; Spranger, Juergen; Zabel, Bernhard; Le Merrer, Martine; Cormier-Daire, Valerie; Hall, Christine M.; Offiah, Amaka; Wright, Michael J.; Savarirayan, Ravi; Nishimura, Gen; Ramsden, Simon C.; Elles, Rob; Bonafe, Luisa; Superti-Furga, Andrea; Unger, Sheila; Zankl, Andreas; Briggs, Michael D. 分享 收藏
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias Le Goff, Carine; Mahaut, Clementine; Wang, Lauren W.; Allali, Slimane; Abhyankar, Avinash; Jensen, Sacha; Zylberberg, Louise; Collod-Beroud, Gwenaelle; Bonnet, Damien; Alanay, Yasemin; Brady, Angela. F.; Cordier, Marie-Pierre; Devriendt, Koen; Genevieve, David; Kiper, Pelin Ozlem Simsek; Kitoh, Hiroshi; Krakow, Deborah; Lynch, Sally Ann; Le Merrer, Martine; Megarbane, Andre; Mortier, Geert; Odent, Sylvie; Polak, Michel; Rohrbach, Marianne; Sillence, David; Stolte-Dijkstra, Irene; Superti-Furga, Andrea; Rimoin, David L.; Topouchian, Vicken; Unger, Sheila; Zabel, Bernhard; Bole-Feysot, Christine; Nitschke, Patrick; Handford, Penny; Casanova, Jean-Laurent; Boileau, Catherine; Apte, Suneel S.; Munnich, Arnold; Cormier-Dairel, Valerie 分享 收藏
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