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Cleidocranial Dysplasia

Known as: Cleidocranial dysostosis, Dysostoses, Cleidocranial Digital, dysostosis cleidocranial 
A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth… Expand
National Institutes of Health

Related topics

Related topics

34 relations
Autosomal dominant inheritanceBrachydactylyCervical ribCleft Palate
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Narrower (4)

CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLYCleidocranial Dysplasia, Forme Fruste, With BrachydactylyParietal Foramina With Cleidocranial DysplasiaYunis Varon syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Reevaluation of absolute luminescence quantum yields of standard solutions using a spectrometer with an integrating sphere and a back-thinned CCD detector.
We reevaluate the absolute fluorescence and phosphorescence quantum yields of standard solutions by using a novel instrument… Expand
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Highly Cited
2005
Highly Cited
2005
Automated electron microscope tomography using robust prediction of specimen movements.
A new method was developed to acquire images automatically at a series of specimen tilts, as required for tomographic… Expand
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Highly Cited
2000
Highly Cited
2000
Spatial filtering for zero-order and twin-image elimination in digital off-axis holography.
Off-axis holograms recorded with a CCD camera are numerically reconstructed with a calculation of scalar diffraction in the… Expand
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Review
1999
Review
1999
Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles… Expand
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Highly Cited
1999
Highly Cited
1999
Simultaneous amplitude-contrast and quantitative phase-contrast microscopy by numerical reconstruction of Fresnel off-axis holograms.
We present a digital method for holographic microscopy involving a CCD camera as a recording device. Off-axis holograms recorded… Expand
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Highly Cited
1999
Highly Cited
1999
Digital holography for quantitative phase-contrast imaging.
We present a new application of digital holography for phase-contrast imaging and optical metrology. This holographic imaging… Expand
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Highly Cited
1998
Highly Cited
1998
A particle image velocimetry system for microfluidics
Abstract A micron-resolution particle image velocimetry (micro-PIV) system has been developed to measure instantaneous and… Expand
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Highly Cited
1997
Highly Cited
1997
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent… Expand
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Highly Cited
1997
Highly Cited
1997
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large… Expand
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