Bone dysplasias : an atlas of constitutional disorders of skeletal development /

Por Spranger, Jurgen W., Langer Jr., Leonard. O., Wiedemann, H. R.
Publicado em 1974

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Por Lausch, Ekkehart, Keppler, Romy, Hilbert, Katja, Cormier-Daire, Valerie, Nikkel, Sarah, Nishimura, Gen, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea, Zabel, Bernhard
Publicado em 2009

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Por Lausch, Ekkehart, Keppler, Romy, Hilbert, Katja, Cormier-Daire, Valerie, Nikkel, Sarah, Nishimura, Gen, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea, Zabel, Bernhard
Publicado em 2009

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Por Lausch, Ekkehart, Hermanns, Pia, Farin, Henner F., Alanay, Yasemin, Unger, Sheila, Nikkel, Sarah, Steinwender, Christoph, Scherer, Gerd, Spranger, Jürgen, Zabel, Bernhard, Kispert, Andreas, Superti-Furga, Andrea
Publicado em 2008

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Por Thiel, Christian T. , Horn, Denise , Zabel, Bernhard , Ekici, Arif B. , Salinas, Kelly , Gebhart, Erich , Rüschendorf, Franz , Sticht, Heinrich , Spranger, Jürgen , Müller, Dietmar , Zweier, Christiane , Schmitt, Mark E. , Reis, André , Rauch, Anita 
Publicado em 2005

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Por Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Publicado em 2008

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Por Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Publicado em 2008

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

Por Arikawa-Hirasawa, Eri, Le, Alexander H., Nishino, Ichizo, Nonaka, Ikuya, Ho, Nicola C., Francomano, Clair A., Govindraj, Prasanthi, Hassell, John R., Devaney, Joseph M., Spranger, Jürgen, Stevenson, Roger E., Iannaccone, Susan, Dalakas, Marinos C., Yamada, Yoshihiko
Publicado em 2002

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Por Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D
Publicado em 2006

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

Por Vissers, Lisenka E.L.M., Lausch, Ekkehart, Unger, Sheila, Campos-Xavier, Ana Belinda, Gilissen, Christian, Rossi, Antonio, Del Rosario, Marisol, Venselaar, Hanka, Knoll, Ute, Nampoothiri, Sheela, Nair, Mohandas, Spranger, Jürgen, Brunner, Han G., Bonafé, Luisa, Veltman, Joris A., Zabel, Bernhard, Superti-Furga, Andrea
Publicado em 2011

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Por Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Publicado no Am J Hum Genet (2016)

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 em 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 no Orphanet J Rare Dis (2016)

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Por Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
Publicado em 2014