SEARCH

SEARCH BY CITATION

Cited in:

CrossRef

This article has been cited by:

  1. 1
    Katja Stange, Claus-Eric Ott, Mareen Schmidt-von Kegler, Gabriele Gillesen-Kaesbach, Stefan Mundlos, Katarina Dathe, Petra Seemann, Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?, Journal of Human Genetics, 2015, 60, 8, 419

    CrossRef

  2. 2
    Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman, Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1, European Journal of Human Genetics, 2015,

    CrossRef

  3. 3
    Mohammad M. Al-Qattan, Muhammed I. Al-Motairi, Mohammed A. Al Balwi, Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C, American Journal of Medical Genetics Part A, 2015, 167, 7
  4. 4
    Tino Thieme, Rica Patzschke, Florian Job, Jens Liebold, Petra Seemann, Hauke Lilie, Jochen Balbach, Elisabeth Schwarz, Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5, FEBS Journal, 2014, 281, 21
  5. 5
    Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann, Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe, European Journal of Human Genetics, 2014, 22, 6, 726

    CrossRef

  6. 6
    Katja Stange, Tino Thieme, Karen Hertel, Silke Kuhfahl, Andreas R. Janecke, Hildegunde Piza-Katzer, Maila Penttinen, Marja Hietala, Katarina Dathe, Stefan Mundlos, Elisabeth Schwarz, Petra Seemann, Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C, Journal of Molecular Biology, 2014, 426, 19, 3221

    CrossRef

  7. 7
    Muhammad Farooq, Hiroyuki Nakai, Atsushi Fujimoto, Hiroki Fujikawa, Klaus Wilbrandt Kjaer, Shahid Mahmood Baig, Yutaka Shimomura, Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family, Human Genetics, 2013, 132, 11, 1253

    CrossRef

  8. 8
    Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong, Identification of aGDF5Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement, Annals of Laboratory Medicine, 2013, 33, 2, 150

    CrossRef

  9. 9
    W. J. Ribbans, M. Collins, Pathology of the tendo Achillis: Do our genes contribute?, The Bone & Joint Journal, 2013, 95-B, 3, 305

    CrossRef

  10. 10
    Bianca Ethel Gutiérrez-Amavizca, Aniel Jessica Leticia Brambila-Tapia, Clara Ibet Juárez-Vázquez, Muriel Holder-Espinasse, Sylvie Manouvrier-Hanu, Fabienne Escande, Patricio Barros-Núñez, A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum, European Journal of Medical Genetics, 2012, 55, 11, 611

    CrossRef

  11. 11
    Cynthia M. Coleman, Brooke H. Scheremeta, Amanda T. Boyce, Robert L. Mauck, Rocky S. Tuan, Delayed Fracture Healing in Growth Differentiation Factor 5-deficient Mice: A Pilot Study, Clinical Orthopaedics and Related Research®, 2011, 469, 10, 2915

    CrossRef

  12. You have free access to this content12
    Sigmar Stricker, Stefan Mundlos, Mechanisms of digit formation: Human malformation syndromes tell the story, Developmental Dynamics, 2011, 240, 5
  13. 13
    M. Posthumus, M. Collins, J. Cook, C. J. Handley, W. J. Ribbans, R. K. W. Smith, M. P. Schwellnus, S. M. Raleigh, Components of the transforming growth factor-  family and the pathogenesis of human Achilles tendon pathology--a genetic association study, Rheumatology, 2010, 49, 11, 2090

    CrossRef

  14. 14
    Yolanda R. Moore, Douglas P. Dickinson, Ulf M. E. Wikesjö, Growth/differentiation factor-5: a candidate therapeutic agent for periodontal regeneration? A review of pre-clinical data, Journal of Clinical Periodontology, 2010, 37, 3
  15. 15
    Ashley M. Byrnes, Lemuel Racacho, Sarah M. Nikkel, Fengxia Xiao, Heather MacDonald, T. Michael Underhill, Dennis E. Bulman, Mutations in GDF5 presenting as semidominant brachydactyly A1, Human Mutation, 2010, 31, 10
  16. 16
    Klaus W. Kjaer, Mehmet Tiner, Sultan Cingoz, Vasfi Karatosun, Niels Tommerup, Stefan Mundlos, Izge Gunal, A novel subtype of distal symphalangism affecting only the 4th finger, American Journal of Medical Genetics Part A, 2009, 149A, 7
  17. 17
    Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos, Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2, The American Journal of Human Genetics, 2009, 84, 4, 483

    CrossRef

  18. 18
    S Mundlos, The brachydactylies: a molecular disease family, Clinical Genetics, 2009, 76, 2
  19. 19
    Nicole Verhey van Wijk, Florian Witte, Ann Carolin Feike, Alexandra Schambony, Walter Birchmeier, Stefan Mundlos, Sigmar Stricker, The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling, Biochemical and Biophysical Research Communications, 2009, 390, 2, 211

    CrossRef

  20. 20
    Anja Hauburger, Sabrina von Einem, Gerburg K. Schwaerzer, Anja Buttstedt, Matthias Zebisch, Michael Schräml, Peter Hortschansky, Petra Knaus, Elisabeth Schwarz, The pro-form of BMP-2 interferes with BMP-2 signalling by competing with BMP-2 for IA receptor binding, FEBS Journal, 2009, 276, 21
  21. 21
    Hermann Manzke, Katarina Lehmann, Eva Klopocki, Almuth Caliebe, Catel–Manzke syndrome: Two new patients and a critical review of the literature, European Journal of Medical Genetics, 2008, 51, 5, 452

    CrossRef

  22. 22
    Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola, Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia, American Journal of Medical Genetics Part A, 2008, 146A, 16
  23. 23
    Wei Yang, Lihua Cao, Wenli Liu, Li Jiang, Miao Sun, Dai Zhang, Shusen Wang, Wilson H. Y. Lo, Yang Luo, Xue Zhang, Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism, Journal of Human Genetics, 2008, 53, 4, 368

    CrossRef

  24. 24
    K. Lehmann, P. Seemann, F. Silan, T.O. Goecke, S. Irgang, K.W. Kjaer, S. Kjaergaard, M.J. Mahoney, S. Morlot, C. Reissner, B. Kerr, A.O.M. Wilkie, S. Mundlos, A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN, The American Journal of Human Genetics, 2007, 81, 2, 388

    CrossRef

  25. 25
    Dov Tiosano, Ze’ev Hochberg, Growth Disorders 2E, 2007,

    CrossRef

  26. 26
    Xu Wang, Fuying Xiao, Qinbo Yang, Bo Liang, Zhaohui Tang, Linbin Jiang, Qihui Zhu, Wei Chang, Jiuxi Jiang, Chuanming Jiang, Xiang Ren, Jing-Yu Liu, Qing K. Wang, Mugen Liu, A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families, American Journal of Medical Genetics Part A, 2006, 140A, 17
  27. 27
    Katarina Lehmann, Petra Seemann, Jan Boergermann, Gilles Morin, Silke Reif, Petra Knaus, Stefan Mundlos, A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2, European Journal of Human Genetics, 2006, 14, 12, 1248

    CrossRef

  28. 28
    Katherine Dawson, Petra Seeman, Eiman Sebald, Lily King, Matthew Edwards, John Williams, Stephan Mundlos, Deborah Krakow, GDF5 Is a Second Locus for Multiple-Synostosis Syndrome, The American Journal of Human Genetics, 2006, 78, 4, 708

    CrossRef

  29. 29
    Robert Pogue, Karen Lyons, 2006,

    CrossRef

  30. 30
    Alessandro Castriota-Scanderbeg, Francesco Giuseppe Garaci, Giampiero Beluffi, Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis, Pediatric Radiology, 2005, 35, 5, 535

    CrossRef

  31. 31
    K. Szczaluba, K. Hilbert, E. Obersztyn, B. Zabel, T. Mazurczak, K. Kozlowski, Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene, American Journal of Medical Genetics Part A, 2005, 138A, 4