Frontiers in Molecular BiosciencesIntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases.
Macarena Gajardo +10 more
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Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies [PDF]
, 2011 Carlos Murga‐Zamalloa +9 more
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Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum [PDF]
, 2011 Erica E. Davis +46 more
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies [PDF]
, 2012 Katarzyna Szymańska +12 more
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The emerging role of Arf/Arl small GTPases in cilia and ciliopathies [PDF]
, 2012 Yujie Li, Kun Ling, Jinghua Hu
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]
, 2012 Silvio Alessandro Di Gioia +8 more
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Novel links between ciliopathies and FGF-related craniofacial syndromes [PDF]
, 2012 Kathy Liu +8 more
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Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]
, 2013 Zakia A. Abdelhamed +6 more
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BBS mutations modify phenotypic expression of CEP290-related ciliopathies [PDF]
, 2013 Yan Zhang +8 more
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