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Bone Diseases, Developmental
Known as:
BONE DEVELOPMENT DISORDER
, Bone Diseases, Developmental [Disease/Finding]
, Dysplasias, Bone
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Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
National Institutes of Health
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Related topics
Related topics
49 relations
Narrower (38)
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
Acrocapitofemoral Dysplasia
Acromicric Dysplasia
Angel shaped phalangoepiphyseal dysplasia
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Connective Tissue Diseases
Connective and Soft Tissue
Growth Disorders
In Blood
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization
V. Tagliabracci
,
J. Engel
,
+6 authors
J. Dixon
Science
2012
Corpus ID: 16011961
The Real McCoy Some secreted proteins are phosphorylated, the most prominent example being the milk protein casein, but the…
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Review
2011
Review
2011
New perspectives on osteogenesis imperfecta
A. Forlino
,
W. A. Cabral
,
Aileen M Barnes
,
J. Marini
Nature Reviews Endocrinology
2011
Corpus ID: 13787355
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant…
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Review
2010
Review
2010
Complications of Pedicle Screw Fixation in Scoliosis Surgery: A Systematic Review
J. Hicks
,
A. Singla
,
F. Shen
,
V. Arlet
Spine
2010
Corpus ID: 13687293
Study Design. Systematic review. Objective. To review the published literature on the use of pedicle screws in pediatric spinal…
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Review
2010
Review
2010
The vanilloid transient receptor potential channel TRPV4: from structure to disease.
W. Everaerts
,
B. Nilius
,
G. Owsianik
Progress in Biophysics and Molecular Biology
2010
Corpus ID: 21070816
Highly Cited
2005
Highly Cited
2005
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.
G. Loots
,
M. Kneissel
,
+6 authors
E. Rubin
Genome Research
2005
Corpus ID: 19116933
Mutations in distant regulatory elements can have a negative impact on human development and health, yet because of the…
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Highly Cited
2002
Highly Cited
2002
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Shih-hsin Kan
,
N. Elanko
,
+12 authors
A. Wilkie
American Journal of Human Genetics
2002
Corpus ID: 802484
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family…
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Highly Cited
2001
Highly Cited
2001
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
W. Balemans
,
M. Ebeling
,
+18 authors
W. Hul
Human Molecular Genetics
2001
Corpus ID: 13202868
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is…
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Highly Cited
2001
Highly Cited
2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
M. Brunkow
,
J. Gardner
,
+15 authors
J. Mulligan
American Journal of Human Genetics
2001
Corpus ID: 39701255
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority…
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Highly Cited
1999
Highly Cited
1999
A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.
C. Li
,
Lin Chen
,
T. Iwata
,
M. Kitagawa
,
X. Fu
,
C. Deng
Human Molecular Genetics
1999
Corpus ID: 43899740
Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including…
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Highly Cited
1996
Highly Cited
1996
Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth
C. Deng
,
A. Wynshaw-Boris
,
Fen Zhou
,
A. Kuo
,
P. Leder
Cell
1996
Corpus ID: 16964342
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