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Ehlers-Danlos syndrome 6B

Known as: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, BRITTLE CORNEA SYNDROME 1, CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY 
 
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Central corneal thickness (CCT) is a risk factor of glaucoma, the most common cause of irreversible blindness worldwide. The… Expand
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Highly Cited
2011
Highly Cited
2011
Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of… Expand
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Highly Cited
2011
Highly Cited
2011
The AAA+ family in eukaryotes has many members in various cellular compartments with a role in protein unfolding and degradation… Expand
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Highly Cited
2010
Highly Cited
2010
Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the… Expand
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2010
2010
PURPOSE To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red… Expand
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Highly Cited
2008
Highly Cited
2008
In this study we analyzed transcript abundance and promoters of genes encoding mitochondrial proteins to identify signaling… Expand
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Highly Cited
2008
Highly Cited
2008
Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing… Expand
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Review
2005
Review
2005
Microsporidia have emerged as causes of infectious diseases in AIDS patients, organ transplant recipients, children, travelers… Expand
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Highly Cited
1998
Highly Cited
1998
We have successfully applied a strategy based on the "cyberscreening" of the expressed sequence tags database using yeast protein… Expand
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Highly Cited
1992
Highly Cited
1992
Respiratory deficient pet mutants of Saccharomyces cerevisiae assigned to complementation group G2 define a new gene, named BCS1… Expand
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