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  1. 1
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  2. 2
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  3. 3
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  4. 4
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  5. 5
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  6. 6
    V. Giuffra, A. Montella, R. Bianucci, M. Milanese, E. Tognotti, D. Caramella, G. Fornaciari, P. Bandiera, Sclerosing Bone Dysplasia from 16th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease, International Journal of Osteoarchaeology, 2016, 26, 1
  7. 7
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    CrossRef

  8. 8
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  9. 9
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  10. 10
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  11. 11
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  12. 12
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    CrossRef

  13. 13
    M. Milella, C. P. E. Zollikofer, M. S. Ponce de León, A Neolithic Case of Mesomelic Dysplasia from Northern Switzerland, International Journal of Osteoarchaeology, 2015, 25, 6
  14. 14
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  15. 15
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  16. 16
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    CrossRef

  17. 17
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  18. 18
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  19. 19
    Krista A. Geister, Sally A. Camper, Advances in Skeletal Dysplasia Genetics, Annual Review of Genomics and Human Genetics, 2015, 16, 1, 199

    CrossRef

  20. 20
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  21. 21
    K. L. Posey, F. Coustry, A. C. Veerisetty, M. Hossain, J. L. Alcorn, J. T. Hecht, Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia, Human Molecular Genetics, 2015, 24, 14, 3918

    CrossRef

  22. 22
    Patricia Okiro, Helen Wainwright, Jürgen Spranger, Peter Beighton, Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes, Pediatric and Developmental Pathology, 2015, 18, 1, 40

    CrossRef

  23. 23
    J. Etich, B. Brachvogel, Bedeutung der extrazellulären Matrix des Knorpels für die Entwicklung und Funktion des Immunsystems, Zeitschrift für Rheumatologie, 2015, 74, 8, 711

    CrossRef

  24. 24
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    CrossRef

  25. 25
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    CrossRef

  26. 26
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    CrossRef

  27. 27
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  28. 28
    A. M. McInerney-Leo, E. L. Duncan, P. J. Leo, B. Gardiner, L. A. Bradbury, J. E. Harris, G. R. Clark, M. A. Brown, A. Zankl, COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, 2015, 88, 1
  29. 29
    Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski, Jian Carrot-Zhang, Sergei Boudko, Francis Glorieux, John S. Mort, Hans-Peter Bächinger, Pierre Moffatt, Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB, The American Journal of Human Genetics, 2015, 96, 3, 425

    CrossRef

  30. 30
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    CrossRef

  31. 31
    William R. Wilcox, Colleen P. Coulter, Michael L. Schmitz, Congenital Limb Deficiency Disorders, Clinics in Perinatology, 2015, 42, 2, 281

    CrossRef

  32. 32
    Angela T. Titmuss, Andrew Biggin, Sophy Korula, Craig F Munns, Diagnosis and Management of Osteoporosis in Children, Current Pediatrics Reports, 2015, 3, 2, 187

    CrossRef

  33. You have free access to this content33
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  34. 34
    Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie S. Falk, Andreas Gießl, Johann Helmut Brandstätter, Bernt Popp, Patricia Klinger, Arif B. Ekici, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Ronald Roepman, Eva Seemanová, Christian T. Thiel, DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects, Scientific Reports, 2015, 5, 11649

    CrossRef

  35. 35
    Blair Merrick, Alistair Calder, Emma Wakeling, Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S), American Journal of Medical Genetics Part A, 2015, 167, 12
  36. 36
    Vrinda Saraff, Wolfgang Högler, ENDOCRINOLOGY AND ADOLESCENCE: Osteoporosis in children: diagnosis and management, European Journal of Endocrinology, 2015, 173, 6, R185

    CrossRef

  37. 37
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    CrossRef

  38. 38
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    CrossRef

  39. 39
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  40. 40
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  41. 41
    E. Barkova, U. Mohan, D. Chitayat, S. Keating, A. Toi, J. Frank, R. Frank, G. Tomlinson, P. Glanc, Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases, Clinical Genetics, 2015, 87, 4
  42. 42
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  43. 43
    Francesco Massart, Mario Miccoli, Angelo Baggiani, Silvano Bertelloni, Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis, Pharmacogenomics, 2015, 16, 17, 1965

    CrossRef

  44. 44
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    CrossRef

  45. 45
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    CrossRef

  46. 46
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    CrossRef

  47. 47
    F. Zhang, L. Xu, L. Xu, Q. Xu, D. Li, Y. Yang, G. Karsenty, C. D. Chen, JMJD3 promotes chondrocyte proliferation and hypertrophy during endochondral bone formation in mice, Journal of Molecular Cell Biology, 2015, 7, 1, 23

    CrossRef

  48. 48
    Florence Lorget, Laurence Legeai-Mallet, Key challenges in the treatment of rare pediatric skeletal genetic disorders: from bench to bedside, Drug Discovery Today, 2015, 20, 7, 781

    CrossRef

  49. 49
    Michael P Whyte, Amanda Blythe, William H McAlister, Angela R Nenninger, Vinieth N Bijanki, Steven Mumm, Lenz-Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1, Journal of Bone and Mineral Research, 2015, 30, 4
  50. 50
    Nancy Unanue M., Karla Moënne B., Alejandro Baar Z., Manejo de Displasias Esqueléticas, Revista Médica Clínica Las Condes, 2015, 26, 4, 470

    CrossRef

  51. You have free access to this content51
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  52. 52
    Laura L. Tosi, Matthew L. Warman, Mechanistic and therapeutic insights gained from studying rare skeletal diseases, Bone, 2015, 76, 67

    CrossRef

  53. 53
    Laura L Tosi, Patricia Fonseca, Matthew Warman, Mechanistic and therapeutic insights into skeletal biology learned from the study of rare bone diseases, IBMS BoneKEy, 2015, 12, 646

    CrossRef

  54. 54
    Leopoldo Staiano, Maria Giovanna De Leo, Maria Persico, Maria Antonietta De Matteis, Mendelian disorders of PI metabolizing enzymes, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2015, 1851, 6, 867

    CrossRef

  55. 55
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    CrossRef

  56. 56
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    CrossRef

  57. 57
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    CrossRef

  58. 58
    Michael D Briggs, Peter A Bell, Michael J Wright, Katarzyna A Pirog, New therapeutic targets in rare genetic skeletal diseases, Expert Opinion on Orphan Drugs, 2015, 3, 10, 1137

    CrossRef

  59. 59
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  60. 60
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  61. 61
    Paul Arundel, Osteogenesis imperfecta, Paediatrics and Child Health, 2015, 25, 12, 574

    CrossRef

  62. 62
    E. Janer Subías, A. de Arriba Muñoz, J.P. García Iñiguez, M. Ferrer Lozano, J. Sanchez del Pozo, J.I. Labarta Aizpun, Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación, Anales de Pediatría, 2015, 82, 1, e35

    CrossRef

  63. 63
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    CrossRef

  64. 64
    Elisabeth Codsi, Brian C. Brost, Arij Faksh, Amber K. Volk, Kristi S. Borowski, Persistent Notochord in a Fetus with COL2A1 Mutation, Case Reports in Obstetrics and Gynecology, 2015, 2015, 1

    CrossRef

  65. 65
    R. Scott Herd, Juraj Sprung, Toby N. Weingarten, Primary osteolysis syndromes: beware of difficult airway, Pediatric Anesthesia, 2015, 25, 7
  66. 66
    Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier, Sophie Collardeau-Frachon, Frédérique Le Breton, Martine Bucourt, Marie Pierre Cordier, Christine Vianey-Saban, Giancarlo Parenti, Generoso Andria, Martine Le Merrer, Patrick Edery, Amaka C. Offiah, Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis, Pediatric Radiology, 2015, 45, 7, 965

    CrossRef

  67. You have free access to this content67
    Mark E. Samuels, Nathalie Alos, Cheri L. Deal, Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?, Human Mutation, 2015, 36, 3
  68. 68
    Deborah Krakow, Skeletal Dysplasias, Clinics in Perinatology, 2015, 42, 2, 301

    CrossRef

  69. 69
    Karen Rosendahl, Gunnar Houge, Gyri Aasland Gradek, Siren Berland, Jonas Meling Fevang, Ragnhild Drage Berentsen, Pétur Benedikt Júlíusson, Spesialpoliklinikk for skjelettdysplasier, Tidsskrift for Den norske legeforening, 2015, 135, 5, 419

    CrossRef

  70. 70
    A.A. Vorster, P. Beighton, R.S. Ramesar, Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families, Clinical Genetics, 2015, 87, 5
  71. 71
    Libin Mei, Yanru Huang, Qian Pan, Wei Su, Yi Quan, Desheng Liang, Lingqian Wu, Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III, Clinica Chimica Acta, 2015, 447, 47

    CrossRef

  72. 72
    L. Masi, D. Agnusdei, J. Bilezikian, D. Chappard, R. Chapurlat, L. Cianferotti, J.-P. Devolgelaer, A. El Maghraoui, S. Ferrari, M. K. Javaid, J.-M. Kaufman, U. A. Liberman, G. Lyritis, P. Miller, N. Napoli, E. Roldan, S. Papapoulos, N. B. Watts, M. L. Brandi, Taxonomy of rare genetic metabolic bone disorders, Osteoporosis International, 2015, 26, 10, 2529

    CrossRef

  73. 73
    G. R. Clark, E. L. Duncan, The genetics of osteoporosis, British Medical Bulletin, 2015, 113, 1, 73

    CrossRef

  74. 74
    Sharon N. DeWitte, Christopher M. Stojanowski, The Osteological Paradox 20 Years Later: Past Perspectives, Future Directions, Journal of Archaeological Research, 2015, 23, 4, 397

    CrossRef

  75. 75
    Stephen Douglass, Atul Goyal, Renato V. Iozzo, The role of perlecan and endorepellin in the control of tumor angiogenesis and endothelial cell autophagy, Connective Tissue Research, 2015, 56, 5, 381

    CrossRef

  76. 76
    Chia-Feng Liu, Véronique Lefebvre, The transcription factors SOX9 and SOX5/SOX6 cooperate genome-wide through super-enhancers to drive chondrogenesis, Nucleic Acids Research, 2015, 43, 17, 8183

    CrossRef

  77. 77
    Sarah A Russell, Twining's Textbook of Fetal Abnormalities, 2015,

    CrossRef

  78. 78
    Junjun Jing, Robert J. Hinton, Jian Q. Feng, Bone Morphogenic Protein, 2015,

    CrossRef

  79. 79
    Bones and Cartilage, 2015,

    CrossRef

  80. 80
    Cynthia L. Neben, Amy E. Merrill, Craniofacial Development, 2015,

    CrossRef

  81. 81
    S. Lazarus, P. Moffatt, E. L. Duncan, G. P. Thomas, A brilliant breakthrough in OI type V, Osteoporosis International, 2014, 25, 2, 399

    CrossRef

  82. 82
    Sophia B. Hufnagel, K Nicole Weaver, Robert B. Hufnagel, Patricia I. Bader, Elizabeth K. Schorry, Robert J. Hopkin, A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia, American Journal of Medical Genetics Part A, 2014, 164, 10
  83. 83
    Leilei Xu, Xusheng Qiu, Zezhang Zhu, Long Yi, Yong Qiu, A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family, European Spine Journal, 2014, 23, S2, 271

    CrossRef

  84. 84
    Shiyin Li, Hao Zhou, Haitao Qin, Hong Guo, Yun Bai, A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita, Joint Bone Spine, 2014, 81, 1, 86

    CrossRef

  85. 85
    Yibin GUO, Yang AI, Xiaoyun WU, Jia TANG, Shujing WANG, Minlian DU, Qun FANG, Rong LI, Yu JIANG, A rare case of complicated osteopathy, Research, 2014, 1,

    CrossRef

  86. 86
    André Mégarbané, Cybel Mehawej, Amir El Zahr, Soha Haddad, Valérie Cormier-Daire, A second family with autosomal recessive spondylometaphyseal dysplasia and early death, American Journal of Medical Genetics Part A, 2014, 164, 4
  87. 87
    Eduardo P. Mattos, Jose Antonio A. Magalhaes, Laureane Mittaz-Crettol, Ricardo Azambuja, Lilian Okada, Denise P. Cavalcanti, Juliana Cuzzi, Mariangela Badalotti, Rafaella Petracco, Alvaro Petracco, Lavinia Schuler-Faccini, Maria Teresa V. Sanseverino, Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis, Open Journal of Obstetrics and Gynecology, 2014, 04, 07, 399

    CrossRef

  88. 88
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    CrossRef

  89. You have free access to this content89
    Kosei Hasegawa, Hiroyuki Tanaka, Children with short-limbed short stature in pediatric endocrinological services in Japan, Pediatrics International, 2014, 56, 6
  90. 90
    Mathew D. Sewell, Nawfal Al-Hadithy, Deborah Higgs, Ian Bayley, Mark Falworth, Simon Lambert, Complex shoulder arthroplasty in patients with skeletal dysplasia can decrease pain and improve function, Journal of Shoulder and Elbow Surgery, 2014, 23, 10, 1499

    CrossRef

  91. 91
    Frédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, Claire Jeandel, Jérôme Cottalorda, Valérie Cormier-Daire, Aurélie Fabre, Bruno Dumont, Geneviève Lefort, Geneviève Baujat, Martine Le Merrer, Christian Jorgensen, Isabelle Touitou, David Geneviève, Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity, American Journal of Medical Genetics Part A, 2014, 164, 3
  92. You have free access to this content92
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  93. 93
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    CrossRef

  94. 94
    Johanna Myllyharju, Extracellular Matrix and Developing Growth Plate, Current Osteoporosis Reports, 2014, 12, 4, 439

    CrossRef

  95. 95
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    CrossRef

  96. 96
    B. Zabel, E. Lausch, Genetische Formen des Kleinwuchses und neue Behandlungskonzepte, Monatsschrift Kinderheilkunde, 2014, 162, 4, 315

    CrossRef

  97. 97
    Sarina G. Kant, Marie-José Walenkamp, Genetische oorzaken van kleine lengte, Tijdschrift voor Kindergeneeskunde, 2014, 82, 1, 26

    CrossRef

  98. 98
    Michael B. Ranke, Growth and development: Bone dysplasia—a frequent cause of short stature in children, Nature Reviews Endocrinology, 2014, 10, 6, 317

    CrossRef

  99. 99
    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

  100. 100
    Razan Paul, Tudor Groza, Jane Hunter, Andreas Zankl, Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain, Journal of Biomedical Informatics, 2014, 48, 73

    CrossRef

  101. 101
    Denitsa Docheva, Cvetan Popov, Paolo Alberton, Attila Aszodi, Integrin signaling in skeletal development and function, Birth Defects Research Part C: Embryo Today: Reviews, 2014, 102, 1
  102. 102
    Fabrizio Ambrosetti, Andrea Palicelli, Gaetano Bulfamante, Francesco Rivasi, Langer Mesomelic Dysplasia in Early Fetuses: Two Cases and a Literature Review, Fetal & Pediatric Pathology, 2014, 33, 2, 71

    CrossRef

  103. 103
    J. Quitmann, S. Witt, A. Rohenkohl, M. Bullinger, R. Sommer, R. Klingebiel, K.-H. Klingebiel, D. Bergs-Winkels, Lebensqualität junger Menschen mit Achondroplasie, Monatsschrift Kinderheilkunde, 2014, 162, 5, 428

    CrossRef

  104. 104
    Maria L Brandi, Lessons from next-generation sequencing in genetic skeletal disorders, BoneKEy Reports, 2014, 3,

    CrossRef

  105. 105
    Barbara L. Gordon, Neena L. Champaigne, R. Curtis Rogers, Jaime L. Frias, Jules G. Leroy, Long-term observation of a patient with dominant omodysplasia, American Journal of Medical Genetics Part A, 2014, 164, 5
  106. 106
    Lindsay A. Bashur, Dongxing Chen, Zhijun Chen, Bojian Liang, Ruggero Pardi, Shunichi Murakami, Guang Zhou, Loss of Jab1 in Osteochondral Progenitor Cells Severely Impairs Embryonic Limb Development in Mice, Journal of Cellular Physiology, 2014, 229, 11
  107. 107
    Sara E. Patterson, Caroline N. Dealy, Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia, Developmental Dynamics, 2014, 243, 7
  108. 108
    Luisa Bonafé, Jinlong Liang, Maria W. Gorna, Qingyan Zhang, Russia Ha-Vinh, Ana Belinda Campos-Xavier, Sheila Unger, Jacques S. Beckmann, Antony Le Béchec, Brian Stevenson, Andres Giedion, Xuanzhu Liu, Giulio Superti-Furga, Wei Wang, André Spahr, Andrea Superti-Furga, MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type, American Journal of Medical Genetics Part A, 2014, 164, 5
  109. 109
    Carlos E. de Andrea, Pancras C.W. Hogendoorn, Molecular genetics of chondroid tumours, Diagnostic Histopathology, 2014, 20, 5, 165

    CrossRef

  110. 110
    Ralph S. Lachman, Barbara K. Burton, Lorne A. Clarke, Scott Hoffinger, Shiro Ikegawa, Dong-Kyu Jin, Hiroki Kano, Ok-Hwa Kim, Christina Lampe, Nancy J. Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K. White, Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose, Skeletal Radiology, 2014, 43, 3, 359

    CrossRef

  111. 111
    Guilherme L. Yamamoto, Wagner A.R. Baratela, Tatiana F. Almeida, Monize Lazar, Clara L. Afonso, Maria K. Oyamada, Lisa Suzuki, Luiz A.N. Oliveira, Ester S. Ramos, Chong A. Kim, Maria Rita Passos-Bueno, Débora R. Bertola, Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, The American Journal of Human Genetics, 2014, 94, 1, 113

    CrossRef

  112. 112
    Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann Moser, Ok-Hwa Kim, Tae-Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong-Kyu Jin, Hiroshi Kitoh, Woong-Yang Park, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Richard M. Pauli, Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, The American Journal of Human Genetics, 2014, 94, 1, 105

    CrossRef

  113. 113
    Osamu Miyazaki, Hideaki Sawai, Jun Murotsuki, Gen Nishimura, Tetsuya Horiuchi, Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias, Pediatric Radiology, 2014, 44, 8, 971

    CrossRef

  114. 114
    S. Lazarus, A. Zankl, E. L. Duncan, Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery, Osteoporosis International, 2014, 25, 2, 407

    CrossRef

  115. 115
    Shiyin Li, Hao Zhou, Haitao Qin, Hong Guo, Yun Bai, Nouvelle mutation du gène COL2A1 dans une famille chinoise présentant une dysplasie spondyloépiphysaire congénitale, Revue du Rhumatisme, 2014, 81, 2, 177

    CrossRef

  116. 116
    Prashob Porayette, Deborah Fruitman, Julie L. Lauzon, Carine Le Goff, Valérie Cormier-Daire, Stephen P. Sanders, Alfredo Pinto-Rojas, Antonio R. Perez-Atayde, Novel Mutations in Geleophysic Dysplasia Type 1, Pediatric and Developmental Pathology, 2014, 17, 3, 209

    CrossRef

  117. 117
    Céline Klein, Carine Le Goff, Vicken Topouchian, Sylvie Odent, Philippe Violas, Christophe Glorion, Valérie Cormier-Daire, Orthopedics management of acromicric dysplasia: Follow up of nine patients, American Journal of Medical Genetics Part A, 2014, 164, 2
  118. 118
    F.S. Van Dijk, D.O. Sillence, Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment, American Journal of Medical Genetics Part A, 2014, 164, 6
  119. 119
    A. Biggin, C. F. Munns, Osteogenesis Imperfecta: Diagnosis and Treatment, Current Osteoporosis Reports, 2014, 12, 3, 279

    CrossRef

  120. 120
    Paul S. Weisman, Papreddy V. Kashireddy, Linda M. Ernst, Pathologic Diagnosis of Achondrogenesis Type 2 in a Fragmented Fetus: Case Report and Evidence-Based Differential Diagnostic Approach in the Early Midtrimester, Pediatric and Developmental Pathology, 2014, 17, 1, 10

    CrossRef

  121. 121
    Stavros Sifakis, Makarios Eleftheriades, Dimitra Kappou, Roberta Murru, Anastasia Konstantinidou, Sandro Orru, Monika Ziegler, Thomas Liehr, Emmanouil Manolakos, Ioannis Papoulidis, Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature, Birth Defects Research Part A: Clinical and Molecular Teratology, 2014, 100, 4
  122. 122
    Víctor Faundes, Silvia Castillo-Taucher, Patricio Gonzalez-Hormazabal, Kate Chandler, Andrew Crosby, Barry Chioza, Raine syndrome: An overview, European Journal of Medical Genetics, 2014, 57, 9, 536

    CrossRef

  123. 123
    J. C. Lui, O. Nilsson, J. Baron, RECENT RESEARCH ON THE GROWTH PLATE: Recent insights into the regulation of the growth plate, Journal of Molecular Endocrinology, 2014, 53, 1, T1

    CrossRef

  124. 124
    J.J. Waterval, V.M. Borra, W. Van Hul, R.J. Stokroos, J.J. Manni, Sclerosing bone dysplasias with involvement of the craniofacial skeleton, Bone, 2014, 60, 48

    CrossRef

  125. 125
    Razan Paul, Tudor Groza, Jane Hunter, Andreas Zankl, Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain, Journal of Biomedical Semantics, 2014, 5, 1, 8

    CrossRef

  126. 126
    Toshiki Takenouchi, Yohei Matsuzaki, Kazuka Yamamoto, Keisuke Kosaki, Chiharu Torii, Takao Takahashi, Kenjiro Kosaki, SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype, European Journal of Medical Genetics, 2014, 57, 6, 298

    CrossRef

  127. 127
    S. K. Mandal, S. Ghosh, S. S. Mondal, S. Chatterjee, Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract, Case Reports, 2014, 2014, may26 1, bcr2013202938

    CrossRef

  128. 128
    Akihiro Yamashita, Miho Morioka, Hiromi Kishi, Takeshi Kimura, Yasuhito Yahara, Minoru Okada, Kaori Fujita, Hideaki Sawai, Shiro Ikegawa, Noriyuki Tsumaki, Statin treatment rescues FGFR3 skeletal dysplasia phenotypes, Nature, 2014, 513, 7519, 507

    CrossRef

  129. 129
    L. Pisoni, S. Del Magno, F. Cinti, B. Dalpozzo, E. Bellei, E. Cloriti, M. Joechler, Surgical induction of metacarpal synostosis for treatment of ectrodactyly in a dog, Veterinary and Comparative Orthopaedics and Traumatology, 2014, 27, 2, 166

    CrossRef

  130. 130
    D. C. Wang, P. Shannon, A. Toi, D. Chitayat, U. Mohan, E. Barkova, S. Keating, G. Tomlinson, P. Glanc, Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia, Ultrasound in Obstetrics & Gynecology, 2014, 44, 5
  131. 131
    Kwok Yeung Tsang, Shun Wa Tsang, Danny Chan, Kathryn S.E. Cheah, The chondrocytic journey in endochondral bone growth and skeletal dysplasia, Birth Defects Research Part C: Embryo Today: Reviews, 2014, 102, 1
  132. 132
    Nina Amália Brancia Pagnan, Átila Fernando Visinoni, Update on ectodermal dysplasias clinical classification, American Journal of Medical Genetics Part A, 2014, 164, 10
  133. 133
    Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel, What is new in genetics and osteogenesis imperfecta classification?, Jornal de Pediatria, 2014, 90, 6, 536

    CrossRef

  134. 134
    Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel, What is new in genetics and osteogenesis imperfecta classification?, Jornal de Pediatria (Versão em Português), 2014, 90, 6, 536

    CrossRef

  135. 135
    E.E. Davis, J.H. Savage, J.R. Willer, Y.-H. Jiang, M. Angrist, A. Androutsopoulos, N. Katsanis, Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT, Clinical Genetics, 2014, 85, 4
  136. 136
    Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire, XYLT1 Mutations in Desbuquois Dysplasia Type 2, The American Journal of Human Genetics, 2014, 94, 3, 405

    CrossRef

  137. 137
    奕斌 郭, 阳 艾, 晓昀 吴, 佳 唐, 敏联 杜, 群 方, 荣 李, 煜 姜, 一罕见疑难骨病, Research, 2014, cn1,

    CrossRef

  138. 138
    C. Munns, D. Sillence, Reference Module in Biomedical Sciences, 2014,

    CrossRef

  139. 139
    David Owen Sillence, Shireen R. Lamandé, Osteogenesis Imperfecta, 2014,

    CrossRef

  140. 140
    D.L. Rimoin, R. Lachman, S. Unger, Reference Module in Biomedical Sciences, 2014,

    CrossRef

  141. 141
    N.B. Schwartz, M. Domowicz, Reference Module in Biomedical Sciences, 2014,

    CrossRef

  142. 142
    Antonio Morales-Piga, Miguel García Ribes, Pilar Arribas Álvaro, Carlos Casado Álvaro, Manuel Posada de La Paz, Javier Bachiller-Corral, ¿Hay lugar en atención primaria para las enfermedades poco frecuentes? El caso de la fibrodisplasia osificante progresiva, Atención Primaria, 2013, 45, 6, 324

    CrossRef

  143. 143
    K. A. Geister, M. L. Brinkmeier, M. Hsieh, S. M. Faust, I. J. Karolyi, J. E. Perosky, K. M. Kozloff, M. Conti, S. A. Camper, A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type, Human Molecular Genetics, 2013, 22, 2, 345

    CrossRef

  144. 144
    Viktoriya Paroder, Todd Miller, M. Michael Cohen, Alan Lawrence Shanske, Absent Sella Turcica: A Case Report and A Review of the Literature, Fetal & Pediatric Pathology, 2013, 32, 5, 375

    CrossRef

  145. 145
    Yosuke Kakisaka, Kazuhiro Haginoya, Yuko Takahashi, Tatsuhiro Ochiai, Ikuma Fujiwara, Atsuo Kikuchi, Keisuke Wakusawa, Satoru Kobayashi, Hirosato Kikuchi, Yasuko Ichihara, Shinichiro Takahashi, Ichizo Nishino, Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations, American Journal of Medical Genetics Part A, 2013, 161, 1
  146. 146
    Andrew C.G. Breeze, Christoph C. Lees, Antenatal diagnosis and management of life-limiting conditions, Seminars in Fetal and Neonatal Medicine, 2013, 18, 2, 68

    CrossRef

  147. 147
    C. L. Hartley, S. Edwards, L. Mullan, P. A. Bell, M. Fresquet, R. P. Boot-Handford, M. D. Briggs, Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases, Human Molecular Genetics, 2013, 22, 25, 5262

    CrossRef

  148. 148
    Eyal Reinstein, Ericka B. Okenfuss, Isha Wadhawan, Yael Wilnai, Melanie Manning, David L. Rimoin, Ralph S. Lachman, Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues, Journal of Applied Genetics, 2013, 54, 2, 231

    CrossRef

  149. You have free access to this content149
    Kerry J. Schulze, Yewande Adekemi Alade, John McGready, Julie E. Hoover-Fong, Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias, American Journal of Medical Genetics Part A, 2013, 161, 8
  150. 150
    José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy, Mona Aglan, Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations, American Journal of Medical Genetics Part A, 2013, 161, 6
  151. 151
    Aritoshi Iida, Pelin Özlem Simsek-Kiper, Shuji Mizumoto, Touma Hoshino, Nursel Elcioglu, Eva Horemuzova, Stefan Geiberger, Gozde Yesil, Hülya Kayserili, Gülen Eda Utine, Koray Boduroglu, Shigehiko Watanabe, Hirofumi Ohashi, Yasemin Alanay, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa, Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations, Human Mutation, 2013, 34, 10
  152. 152
    Fleur S van Dijk, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Agnieszka Rusinska, Oliver Semler, Sofie Symoens, Gerard Pals, Clinical utility gene card for: osteogenesis imperfecta, European Journal of Human Genetics, 2013, 21, 6

    CrossRef

  153. 153
    Y Alade, D Tunkel, K Schulze, J McGready, G Jallo, M Ain, T Yost, J Hoover-Fong, Cross-sectional assessment of pain and physical function in skeletal dysplasia patients, Clinical Genetics, 2013, 84, 3
  154. 154
    Noor Niyar N. Ladhani, David Chitayat, Marjan M. Nezarati, Mittaz Crettol Laureane, Sarah Keating, Rachel J. Silver, Sheila Unger, Lea Velsher, Wilma Sirkin, Ants Toi, Phyllis Glanc, Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis, Prenatal Diagnosis, 2013, 33, 11
  155. 155
    Nobuhiko Haga, Keisuke Kosaki, Kazuharu Takikawa, Hiroshi Tanaka, Keita Okada, Yasuo Nakahara, Naoshi Ogata, Education and related support from medical specialists for Japanese patients with major skeletal dysplasias, Disability and Health Journal, 2013, 6, 4, 399

    CrossRef

  156. 156
    Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G. Santos, Stavit A. Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire, Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia, The American Journal of Human Genetics, 2013, 92, 1, 144

    CrossRef

  157. 157
    Sheila Unger, Maria W. Górna, Antony Le Béchec, Sonia Do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedre Grigelioniene, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch, Cinzia Magnani, Sheela Nampoothiri, Gen Nishimura, Duccio Petrella, Francisca Rojas-Ringeling, Akari Utsunomiya, Bernhard Zabel, Sylvain Pradervand, Keith Harshman, Belinda Campos-Xavier, Luisa Bonafé, Giulio Superti-Furga, Brian Stevenson, Andrea Superti-Furga, FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development, The American Journal of Human Genetics, 2013, 92, 6, 990

    CrossRef

  158. 158
    Marie Crahes, Pascale Saugier-Veber, Sophie Patrier, Moutaz Aziz, Nathalie Pirot, Marie Brasseur-Daudruy, Valérie Layet, Thierry Frébourg, Annie Laquerrière, Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation, European Journal of Medical Genetics, 2013, 56, 7, 365

    CrossRef

  159. 159
    Sérgio B Sousa, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida, Glenn Anderson, James Docker, Mina Ryten, Joaquim Sa, Jorge M Saraiva, Angela Barnicoat, Richard Scott, Alistair Calder, Duangrurdee Wattanasirichaigoon, Krystyna Chrzanowska, Martina Simandlová, Lionel Van Maldergem, Philip Stanier, Philip L Beales, Jean E Vance, Gudrun E Moore, Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome, Nature Genetics, 2013, 46, 1, 70

    CrossRef

  160. 160
    Shawn E. Parnell, Corey Wall, Edward Weinberger, Interactive digital atlas of skeletal surveys for common skeletal dysplasias, Pediatric Radiology, 2013, 43, 7, 803

    CrossRef

  161. 161
    Péter Kisfali, Katalin Komlósi, Kinga Hadzsiev, Béla Melegh, Larsen-syndrome: final diagnosis following multiple surgical interventions, Orvosi Hetilap, 2013, 154, 4, 143

    CrossRef

  162. 162
    Beatriz Castaneda, François Ferré, Natacha Kadlub, Maladies rares des tissus conjonctifs et précautions orthodontiques, Revue d'Orthopédie Dento-Faciale, 2013, 47, 4, 373

    CrossRef

  163. 163
    Anastasia E. Konstantinidou, Jason Tasoulas, Georgios Kallipolitis, Spyros Gasparatos, Voula Velissariou, Helen Paraskevakou, Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype, Birth Defects Research Part A: Clinical and Molecular Teratology, 2013, 97, 12
  164. 164
    C. Guerra, P. Rendeiro, E. Pereira, A. Rosmaninho, R. Nogueira, S. Pereira, P. Tavares, Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology, Ultrasound in Obstetrics & Gynecology, 2013, 41, 1
  165. 165
    T. Stauber, D. Horn, U. Kornak, Monogene Ionenkanalerkrankungen des Knochens, medizinische genetik, 2013, 25, 4, 493

    CrossRef

  166. 166
    Filip Christian Castberg, Susanne Kjaergaard, Rebecca A. Mosig, Mollie Lobl, Chiara Martignetti, John A. Martignetti, Charlotte Myrup, Marek Zak, Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review, European Journal of Pediatrics, 2013, 172, 12, 1657

    CrossRef

  167. 167
    Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza-Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela F. Leal, Denise Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafé, Hirofumi Ohashi, Andrea Superti-Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa, Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders, The American Journal of Human Genetics, 2013, 92, 6, 927

    CrossRef

  168. 168
    G. Sule, P. M. Campeau, V. W. Zhang, S. C. S. Nagamani, B. C. Dawson, M. Grover, C. A. Bacino, V. R. Sutton, N. Brunetti-Pierri, J. T. Lu, E. Lemire, R. A. Gibbs, D. H. Cohn, H. Cui, L.-J. Wong, B. H. Lee, Next-generation sequencing for disorders of low and high bone mineral density, Osteoporosis International, 2013, 24, 8, 2253

    CrossRef

  169. 169
    Salma Ben-Salem, Jozef Hertecant, Aisha M. Al-Shamsi, Bassam R. Ali, Lihadh Al-Gazali, Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates, Birth Defects Research Part A: Clinical and Molecular Teratology, 2013, 97, 12
  170. 170
    Weiguo Sui, Minglin Ou, Jinlong Liang, Min Ding, Jiejing Chen, Wei Liu, Ruo Xiao, Xiaohua Meng, Lijuan Wang, Xiaohua Pan, Peng Zhu, Wen Xue, Yue Zhang, Hua Lin, Fengyan Li, Jianguo Zhang, Yong Dai, Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing, Gene, 2013, 516, 2, 311

    CrossRef

  171. 171
    Toshimi Michigami, Regulatory mechanisms for the development of growth plate cartilage, Cellular and Molecular Life Sciences, 2013, 70, 22, 4213

    CrossRef

  172. 172
    M. Hernandez, Retracted: A Possible Case of Hypopituitarism in Neolithic China, International Journal of Osteoarchaeology, 2013, 23, 4
  173. 173
    Aideen M. McInerney-Leo, Miriam Schmidts, Claudio R. Cortés, Paul J. Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica A. Harris, Yeping Lu, Mhairi Marshall, Peter J. Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking, Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60, The American Journal of Human Genetics, 2013, 93, 3, 515

    CrossRef

  174. 174
    Shagun Aggarwal, Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century, Gene, 2013, 528, 1, 41

    CrossRef

  175. 175
    Marco Castori, Silvia Morlino, Francesca Clementina Radio, Carmelilia De Bernardo, Paola Grammatico, The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with (“San Diego” variant) and without ragged metaphyses due to the same FGFR3 mutation, American Journal of Medical Genetics Part A, 2013, 161, 10
  176. 176
    Cybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, Richard Mouy, Marion Gérard, Isabelle Landru, Morgane Gosselin, Philippe Koehrer, Christiane Mousson, Sylvain Breton, Pierre Quartier, Martine Le Merrer, Laurence Faivre, Valérie Cormier-Daire, The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability, American Journal of Medical Genetics Part A, 2013, 161, 12
  177. 177
    Miriam S. Reuter, Georg C. Schwabe, Christian Ehlers, Christoph Marschall, André Reis, Christian Thiel, Luitgard Graul-Neumann, Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders, European Journal of Medical Genetics, 2013, 56, 12, 669

    CrossRef

  178. 178
    George A Tanteles, Abhijit Dixit, Sunil Dhar, Mohnish Suri, Two somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability, American Journal of Medical Genetics Part A, 2013, 161, 10
  179. 179
    Peter M. van der Kraan, Understanding Developmental Mechanisms in the Context of Osteoarthritis, Current Rheumatology Reports, 2013, 15, 6

    CrossRef

  180. 180
    Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire, WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia, The American Journal of Human Genetics, 2013, 93, 5, 926

    CrossRef

  181. 181
    Aideen M McInerney-Leo, Mhairi S Marshall, Brooke Gardiner, Paul J Coucke, Lut Van Laer, Bart L Loeys, Kim M Summers, Sofie Symoens, Jennifer A West, Malcolm J West, B Paul Wordsworth, Andreas Zankl, Paul J Leo, Matthew A Brown, Emma L Duncan, Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome, BoneKEy Reports, 2013, 2,

    CrossRef

  182. 182
    Toshiyuki Fukada, Shintaro Hojyo, Tatsuya Furuichi, Zinc signal: a new player in osteobiology, Journal of Bone and Mineral Metabolism, 2013, 31, 2, 129

    CrossRef

  183. 183
    Deborah Krakow, Emery and Rimoin's Principles and Practice of Medical Genetics, 2013,

    CrossRef

  184. 184
    Bram Perdu, Wim Van Hul, Genetics of Bone Biology and Skeletal Disease, 2013,

    CrossRef

  185. 185
    D.O. Sillence, Brenner's Encyclopedia of Genetics, 2013,

    CrossRef

  186. 186
    Jay R. Shapiro, Osteoporosis, 2013,

    CrossRef

  187. 187
    Mariko L. Ishimori, Emery and Rimoin's Principles and Practice of Medical Genetics, 2013,

    CrossRef

  188. 188
    Ana M. Valdes, Genetics of Bone Biology and Skeletal Disease, 2013,

    CrossRef

  189. 189
    David L. Rimoin, Ralph Lachman, Sheila Unger, Emery and Rimoin's Principles and Practice of Medical Genetics, 2013,

    CrossRef

  190. 190
    Deborah Krakow, Kelley's Textbook of Rheumatology, 2013,

    CrossRef

  191. 191
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  192. 192
    Bushra Khan, Sulman Basit, Muhammad Touseef, Muhammad Tariq, Muhammad Nasim Khan, Wasim Ahmad, A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1, European Journal of Medical Genetics, 2012, 55, 8-9, 455

    CrossRef

  193. 193
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    CrossRef

  194. 194
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    CrossRef

  195. 195
    H.-G. K. Blaas, C. Vogt, S. H. Eik-Nes, Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound, Ultrasound in Obstetrics & Gynecology, 2012, 40, 2
  196. 196
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  197. 197
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    CrossRef

  198. 198
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  199. You have free access to this content199
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  200. 200
    Evelina Maines, Elena Monti, Francesco Doro, Grazia Morandi, Paolo Cavarzere, Franco Antoniazzi, Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw, Journal of Bone and Mineral Metabolism, 2012, 30, 4, 434

    CrossRef

  201. 201
    Celine Huber, Valerie Cormier-Daire, Ciliary disorder of the skeleton, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012, 160C, 3
  202. 202
    Cecília O. Barbosa-Buck, Iêda M. Orioli, Maria da Graça Dutra, Jorge Lopez-Camelo, Eduardo E. Castilla, Denise P. Cavalcanti, Clinical epidemiology of skeletal dysplasias in South America, American Journal of Medical Genetics Part A, 2012, 158A, 5, 1038

    CrossRef

  203. You have free access to this content203
    Carlos E de Andrea, Pancras CW Hogendoorn, Epiphyseal growth plate and secondary peripheral chondrosarcoma: the neighbours matter, The Journal of Pathology, 2012, 226, 2
  204. 204
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  205. 205
    JILL CLAYTON-SMITH, FETAL DYSMORPHOLOGY, Fetal and Maternal Medicine Review, 2012, 23, 01, 52

    CrossRef

  206. 206
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  207. 207
    Dongquan Shi, Jin Dai, Shiro Ikegawa, Qing Jiang, Genetic study on developmental dysplasia of the hip, European Journal of Clinical Investigation, 2012, 42, 10
  208. 208
    Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, Pelin Ozlem Simsek Kiper, David Geneviève, David Sillence, Celine Huber, Arnold Munnich, Prof. Valérie Cormier-Daire, IMPAD1 mutations in two Catel-Manzke like patients, American Journal of Medical Genetics Part A, 2012, 158A, 9
  209. 209
    Nikhita Bolar, Lut Van Laer, Bart L. Loeys, Marfan syndrome, Current Opinion in Pediatrics, 2012, 24, 4, 498

    CrossRef

  210. 210
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    CrossRef

  211. You have free access to this content211
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  212. 212
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  213. 213
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  214. 214
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  215. 215
    Tim Cundy, Recent Advances in Osteogenesis Imperfecta, Calcified Tissue International, 2012, 90, 6, 439

    CrossRef

  216. 216
    Marianne Rohrbach, Cecilia Giunta, Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012, 160C, 3
  217. 217
    Wim Van Hul, Sclerosing bone disorders: a lot of knowns but still some unknowns, BoneKEy Reports, 2012, 1, 6

    CrossRef

  218. 218
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    CrossRef

  219. 219
    Sonali Nagendran, Allan J. Richards, Annie McNinch, Richard N. Sandford, Martin P. Snead, Somatic mosaicism and the phenotypic expression of COL2A1 mutations, American Journal of Medical Genetics Part A, 2012, 158A, 5, 1204

    CrossRef

  220. 220
    James O. Sanders, Spinal Deformity in Skeletal Dysplasias, Spine Deformity, 2012,

    CrossRef

  221. 221
    N A Akawi, B R Ali, L Al-Gazali, Stüve–Wiedemann syndrome and related bent bone dysplasias, Clinical Genetics, 2012, 82, 1
  222. 222
    J. C. Lui, O. Nilsson, Y. Chan, C. D. Palmer, A. C. Andrade, J. N. Hirschhorn, J. Baron, Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height, Human Molecular Genetics, 2012, 21, 23, 5193

    CrossRef

  223. 223
    Tudor Groza, Jane Hunter, Andreas Zankl, The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain, BMC Bioinformatics, 2012, 13, 1, 50

    CrossRef

  224. 224
    N. D. Siddesh, Hitesh Shah, Benjamin Joseph, The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type, Skeletal Radiology, 2012, 41, 8, 939

    CrossRef

  225. 225
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    CrossRef

  226. 226
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    CrossRef

  227. 227
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  228. 228
    C. Thiel, A. Rauch, Wachstumsstörungen als Leitsymptom, medizinische genetik, 2012, 24, 2, 123

    CrossRef

  229. 229
    Sheila Unger, Andrea Superti-Furga, David L. Rimoin, Pediatric Bone, 2012,

    CrossRef

  230. 230
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    CrossRef

  231. You have free access to this content231
    Emily L Germain-Lee, A new culprit in osteogenesis imperfecta, Journal of Bone and Mineral Research, 2011, 26, 12
  232. 232
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  233. 233
    Anna Teti, Bone Development: Overview of Bone Cells and Signaling, Current Osteoporosis Reports, 2011, 9, 4, 264

    CrossRef

  234. 234
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    CrossRef

  235. 235
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  236. 236
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    CrossRef

  237. 237
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    CrossRef

  238. 238
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    CrossRef

  239. 239
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  240. 240
    Salvatore Minisola, Vincenzo Carnevale, Najwa Al Ansari, Ernesto Tomei, Richard C. Semelka, Adult Bone Diseases That Begin in Childhood,
  241. 241
    Ana M Valdes, Human Genetics of Osteoarthritis, eLS,
  242. 242
    Yasemin Alanay, David L. Rimoin, Osteochondrodysplasias,