Concepedia

Skeletal Developmental Defects

Skeletal Developmental Defects is a congenital anomaly characterized by structural or morphological deviations in the formation, growth, or ossification of the embryonic skeleton arising during prenatal development due to genetic, environmental, or toxicological disruptions.

872

Publications

53.2K

Citations

4.4K

Authors

1.3K

Institutions

Publications per year

2017–2026

108

Parents

Publications

872

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

, , +14

TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes

Lynn Sanford, Ilona Ormsby, Adriana C. Gittenberger–de Groot et al. · Development · 1997 · 1.4K citations · Full text

, , +17

BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning.

Guode Luo, Clementine Hofmann, A.L.J.J. Bronckers et al. · Genes & Development · 1995 · 1K citations · Full text

, , +17

Specific and redundant functions of <i>Gli2</i> and <i>Gli3</i> zinc finger genes in skeletal patterning and development

Rong Mo, Anne Marie Freer, Dawn Zinyk et al. · Development · 1997 · 609 citations

, , +17

Haploinsufficiency of <i>Sox9</i> results in defective cartilage primordia and premature skeletal mineralization

Weimin Bi, Wendong Huang, Deanne J. Whitworth et al. · Proceedings of the National Academy of Sciences · 2001 · 542 citations · Full text

, , +17

1–5 of 872

Authors

4.4K

  1. DL
    David L. Rimoin

    Cedars-Sinai Medical Center, United States

    11 publications · 710 citations

    10

    h-index

  2. JF
    James F. Reynolds

    Duke University, United States

    9 publications · 326 citations

    9

    h-index

  3. EM
    Elena Menegola

    University of Milan, Italy

    8 publications · 419 citations

    8

    h-index

  4. EG
    Erminio Giavini

    University of Milan, Italy

    8 publications · 419 citations

    8

    h-index

  5. RS
    Ralph S. Lachman

    Cedars-Sinai Medical Center, United States

    8 publications · 500 citations

    8

    h-index

1–5 of 4.4K

Institutions

1.3K

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    25 h-index

    69 publications

    14.8K citations

  2. Harvard University

    Cambridge, United States

    24 h-index

    94 publications

    9.8K citations

  3. Inserm

    Paris, France

    18 h-index

    93 publications

    5.1K citations

  4. University of Michigan

    Ann Arbor, United States

    16 h-index

    63 publications

    4.6K citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    13 h-index

    47 publications

    3.7K citations

  6. University of California San Diego

    San Diego, United States

    13 h-index

    24 publications

    1.5K citations

  7. National Institutes of Health

    Bethesda, United States

    13 h-index

    48 publications

    6K citations

  8. University of Washington

    Seattle, United States

    13 h-index

    51 publications

    3.3K citations

1–8 of 1.3K

Venues

  1. Development

    31 publications · 6.9K citations

    27

    h-index

  2. American Journal of Medical Genetics

    48 publications · 2.1K citations

    27

    h-index

  3. Teratology

    41 publications · 2K citations

    24

    h-index

  4. PubMed

    Repository · 57 publications · 2.1K citations

    24

    h-index

  5. Human Molecular Genetics

    24 publications · 1.7K citations

    21

    h-index

1–5