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Chondrodysplasia
Known as:
chondrodysplasias
National Institutes of Health
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Related topics
Related topics
5 relations
Narrower (1)
Chondrodysplasia Punctata Syndrome
Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density
Enchondromatosis
Nivelon Nivelon Mabille syndrome
chondrodystrophy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Subcellular Localization and Ser-137 Phosphorylation Regulate Tumor-suppressive Activity of Profilin-1*
M. Diamond
,
Shirong Cai
,
+7 authors
J. Shao
Journal of Biological Chemistry
2015
Corpus ID: 5749868
Background: The actin-binding protein profilin-1 is a eukaryotic protein essential for growth, with poorly understood antitumor…
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Review
2014
Review
2014
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia
S. Patterson
,
C. Dealy
Developmental Dynamics
2014
Corpus ID: 46030580
Chondrodysplasias are a group of genetic disorders that affect the development and growth of cartilage. These disorders can…
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2013
2013
EcmPred: prediction of extracellular matrix proteins based on random forest with maximum relevance minimum redundancy feature selection.
K. Kandaswamy
,
G. Pugalenthi
,
K. Kalies
,
E. Hartmann
,
T. Martinetz
Journal of Theoretical Biology
2013
Corpus ID: 206563176
2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
E. Jakkula
,
O. Mäkitie
,
+6 authors
L. Ala‐kokko
European Journal of Human Genetics
2005
Corpus ID: 8985139
Correction to: European Journal of Human Genetics (2005) 13, 292–301. doi:10.1038/sj.ejhg.5201314 The author name Malwina Czarny…
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Review
2003
Review
2003
Fgfr mRNA isoforms in craniofacial bone development.
D. Rice
,
D. Rice
,
R. Rice
,
I. Thesleff
Bone
2003
Corpus ID: 38393372
Review
1998
Review
1998
What holds us together? Why do some of us fall apart? What can we do about it?
D. J. Prockop
Matrix Biology
1998
Corpus ID: 38599975
1998
1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Russell J. Fernandes
,
D. Wilkin
,
+8 authors
D. Eyre
Archives of Biochemistry and Biophysics
1998
Corpus ID: 25824661
Kniest dysplasia, a human chondrodysplasia that severely affects skeletal growth, is caused by mutations in the type II collagen…
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1996
1996
Craniofacial anthropometric analysis in several types of chondrodysplasia.
A. Hunter
American journal of medical genetics
1996
Corpus ID: 8167936
Craniofacial anthropometric analysis is a generally accessible technique that potentially offers an objective tool to reduce the…
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1986
1986
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
Z. Borochowitz
,
K. L. Jones
,
R. Silbey
,
G. Adomian
,
R. Lachman
,
D. Rimoin
American journal of medical genetics
1986
Corpus ID: 21518701
We describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal…
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Highly Cited
1972
Highly Cited
1972
Studies on cartilage. VI. A genetically determined defect in tracheal cartilage.
R. Seegmiller
,
C. C. Ferguson
,
H. Sheldon
Journal of Ultrastructure Research
1972
Corpus ID: 31916293
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