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Title
KIAA0586is Mutated in Joubert Syndrome
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 36, Issue 9, Pages 831-835
Publisher
Wiley
Online
2015-06-20
DOI
10.1002/humu.22821
References
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Related references
Note: Only part of the references are listed.- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Joubert syndrome: genotyping a Northern European patient cohort
- (2015) Hester Y Kroes et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
- (2015) R Bachmann-Gagescu et al. JOURNAL OF MEDICAL GENETICS
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
- (2014) Evan A. Boyle et al. BIOINFORMATICS
- The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly
- (2014) Tetsuo Kobayashi et al. JOURNAL OF CELL BIOLOGY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Failure of centrosome migration causes a loss of motile cilia intalpid3mutants
- (2013) Louise A. Stephen et al. DEVELOPMENTAL DYNAMICS
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth
- (2013) Marta Romani et al. LANCET NEUROLOGY
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates
- (2011) J. Ben et al. DEVELOPMENT
- Generation of mice with functional inactivation of talpid3, a gene first identified in chicken
- (2011) F. Bangs et al. DEVELOPMENT
- The primary cilium: a signalling centre during vertebrate development
- (2010) Sarah C. Goetz et al. NATURE REVIEWS GENETICS
- Joubert Syndrome and related disorders
- (2010) Francesco Brancati et al. Orphanet Journal of Rare Diseases
- The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation
- (2009) Y. Yin et al. DEVELOPMENT
- Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
- (2009) Dan Doherty Seminars in Pediatric Neurology
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