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Chondrodysplasia, blomstrand type

Known as: Blomstrand lethal osteochondrodysplasia, Blomstrand syndrome, Blomstrand osteochondrodysplasia 
 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceHydrops FetalisLaryngeal calcificationMandibular hypoplasia
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Broader (2)

Hereditary Multiple ExostosesOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare autosomal recessive sclerosing skeletal dysplasia characterized by… Expand
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2016
2016
Expression and structural studies of nucleic acid binding cytidine deaminases
Activation Induced Deaminase (AID) and the APOBEC3 proteins are nucleic acid cytidine deaminases (CDs) which play critical roles… Expand
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2013
2013
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption
ObjectivesPrimary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite… Expand
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Highly Cited
2008
Highly Cited
2008
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium… Expand
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2007
2007
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
CONTEXT The PTH/PTHrP receptor type 1 (PTHR1) has a key role in endochondral ossification, which is emphasized by diseases… Expand
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2006
2006
zVAD-fmk, unlike BocD-fmk, does not inhibit caspase-6 acting on 14-3-3/Bad pathway in apoptosis of p815 mastocytoma cells
In a preliminary study, we found that benzyloxycarbonyl-Val-Ala-Asp(OMe)-fluoromethylketone (zVAD- fmk), unlike Boc-aspartyl(OMe… Expand
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Review
2000
Review
2000
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity
Abstract Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by… Expand
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Highly Cited
1999
Highly Cited
1999
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.
Blomstrand osteochondrodysplasia (BOCD) is a rare lethal skeletal dysplasia characterized by accelerated endochondral and… Expand
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1996
1996
Blomstrand lethal osteochondrodysplasia.
We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand… Expand
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