Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
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Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesMotile and non-motile cilia in human pathology: from function to phenotypes.Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.Combination of novel and public RNA-seq datasets to generate an mRNA expression atlas for the domestic chicken
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 06 May 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
@en
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
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type
label
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
@en
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
@nl
prefLabel
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
@en
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
@nl
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P2860
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P1476
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
@en
P2093
Bart De Keersmaecker
Damir Musaev
Hilde Van Esch
Ichraf Kraoua
Joachim Van Keirsbilck
Mala Isrie
Marta Romani
Paul R Mark
Philippe Moerman
Rasim Ozgur Rosti
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P304
P356
10.1136/JMEDGENET-2016-103832
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P577
2016-05-06T00:00:00Z