Ehlers-Danlos syndrome 6B

Known as: Dysgenesis Mesodermalis Corneae et Sclerae, Brittle cornea syndrome 1, Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility 
 

Topic mentions per year

Topic mentions per year

1988-2016
02419882016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Barnacles adhere permanently to surfaces by secreting and curing a thin interfacial adhesive underwater. Here, we show that the… (More)
Is this relevant?
2012
2012
To the Editor : Brittle cornea syndrome (BCS) (MIM229200) is an autosomal recessive disorder characterized by abnormally fragile… (More)
  • figure 1
Is this relevant?
2012
2012
Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning… (More)
  • figure 1
  • table 1
  • figure 2
Is this relevant?
2010
2010
PURPOSE To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red… (More)
Is this relevant?
2008
2008
In this study we analyzed transcript abundance and promoters of genes encoding mitochondrial proteins to identify signaling… (More)
  • figure 1
  • figure 2
  • figure 3
  • table I
  • figure 4
Is this relevant?
2008
2008
Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing… (More)
Is this relevant?
2008
2008
The development of the Romanian WordNet began in 2001 within the framework of the European project BalkaNet which aimed at… (More)
  • table 1
  • table 2
  • table 3
  • figure 2
  • figure 3
Is this relevant?
2003
2003
BCS1, a component of the inner membrane of mitochondria, belongs to the group of proteins with internal, noncleavable import… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
1992
1992
Respiratory deficient pet mutants of Saccharomyces cerevisiae assigned to complementation group G2 define a new gene, named BCS1… (More)
Is this relevant?
1990
1990
We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited… (More)
  • figure 2
  • figure 3
  • figure 1
  • figure 5
  • figure 4
Is this relevant?