CC2D2A gene

Known as: CC2D2A, KIAA1345, JBTS9 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2008-2016
0246820082016

Papers overview

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2015
2015
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles… (More)
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2014
2014
The primary cilium originates from the mother centriole and participates in critical functions during organogenesis. Defects in… (More)
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2012
2012
BACKGROUND Joubert syndrome (JS) is a ciliopathy characterised by a distinctive brain malformation (the 'molar tooth sign… (More)
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2011
2011
Ciliopathies are a genetically and phenotypically heterogeneous group of human developmental disorders whose root cause is the… (More)
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2011
2011
PURPOSE Bardet-Biedl syndrome (BBS) is genetically heterogeneous with 15 BBS genes currently identified, accounting for… (More)
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2011
2011
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal… (More)
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2010
2010
OBJECTIVE To identify genetic causes of COACH syndrome BACKGROUND COACH syndrome is a rare autosomal recessive disorder… (More)
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2009
2009
Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain… (More)
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Highly Cited
2008
Highly Cited
2008
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia… (More)
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2008
2008
Autosomal-recessive inheritance is believed to be relatively common in mental retardation (MR), although only four genes for… (More)
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