Concepedia

Bone Dysplasias

Bone Dysplasias is a group of rare, primarily heritable disorders of skeletal growth and development characterized by intrinsic abnormalities in the formation, modeling, or mineralization of bone, often with associated cartilage involvement, resulting in generalized alterations of bone size, shape, and structure.

3K

Publications

137.5K

Citations

12K

Authors

2.7K

Institutions

Publications per year

2017–2026

393

Variants

Bone Dysplasia

Parents

Children

Publications

3K

Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development

Florian Otto, Anders Thornell, Tessa Crompton et al. · Cell · 1997 · 2.8K citations · Full text

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Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

Andrew C. Karaplis, A. Luz, Julie Glowacki et al. · Genes & Development · 1994 · 1.2K citations · Full text

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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

Wendy Balemans · Human Molecular Genetics · 2001 · 1.1K citations · Full text

, , +14

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

Mary E. Brunkow, Jessica C. Gardner, Jeff Van Ness et al. · The American Journal of Human Genetics · 2001 · 1K citations · Full text

, , +11

Report of two cases and review of the literature

Gregory P. L Ekovic, Nitin R. Mariwalla, Eric M. Horn et al. · 2006 · 864 citations

, , +14

1–5 of 3K

Authors

12K

  1. MT
    Michael T. Collins

    National Institute of Dental and Craniofacial Research, United States

    38 publications · 4K citations

    33

    h-index

  2. PG
    Pamela Gehron Robey

    National Institute of Dental and Craniofacial Research, United States

    34 publications · 4.3K citations

    30

    h-index

  3. GN
    Gen Nishimura

    Tokyo Metropolitan Children's Medical Center, Japan

    50 publications · 1.9K citations

    26

    h-index

  4. DL
    David L. Rimoin

    Cedars-Sinai Medical Center, United States

    37 publications · 1.8K citations

    24

    h-index

  5. SI
    Shiro Ikegawa

    RIKEN Center for Integrative Medical Sciences, Japan

    31 publications · 1.5K citations

    24

    h-index

1–5 of 12K

Institutions

2.7K

  1. National Institutes of Health

    Bethesda, United States

    49 h-index

    283 publications

    34K citations

  2. National Institute of Dental and Craniofacial Research

    Bethesda, United States

    38 h-index

    198 publications

    20.8K citations

  3. Harvard University

    Cambridge, United States

    34 h-index

    142 publications

    26.3K citations

  4. University of California, Los Angeles

    Los Angeles, United States

    32 h-index

    138 publications

    8.1K citations

  5. Inserm

    Paris, France

    31 h-index

    228 publications

    12.2K citations

  6. University College London

    London, United Kingdom

    30 h-index

    158 publications

    8.4K citations

  7. Cedars-Sinai Medical Center

    Los Angeles, United States

    29 h-index

    151 publications

    7.9K citations

  8. Johns Hopkins University

    Baltimore, United States

    28 h-index

    109 publications

    8.7K citations

1–8 of 2.7K

Venues

  1. PubMed

    Repository · 297 publications · 9.5K citations

    44

    h-index

  2. American Journal of Medical Genetics

    139 publications · 5.5K citations

    41

    h-index

  3. 40

    h-index

  4. Journal of Bone and Mineral Research

    JBMR · 59 publications · 4.9K citations

    38

    h-index

  5. Journal of Bone and Joint Surgery

    JBJS · 79 publications · 5.5K citations

    37

    h-index

1–5