4.5 Article

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

KIAA0586 is Mutated in Joubert Syndrome

Ruxandra Bachmann-Gagescu et al.

HUMAN MUTATION (2015)

Article Anatomy & Morphology

Failure of centrosome migration causes a loss of motile cilia in talpid3 mutants

Louise A. Stephen et al.

DEVELOPMENTAL DYNAMICS (2013)

Review Clinical Neurology

joubert syndrome: congenital cerebellar ataxia with the molar tooth

Marta Romani et al.

LANCET NEUROLOGY (2013)

Review Cell Biology

The mechanisms of Hedgehog signalling and its roles in development and disease

James Briscoe et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2013)

Article Biochemical Research Methods

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

Jamie K. Teer et al.

BIOINFORMATICS (2012)

Article Cell Biology

Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles

Veena Singla et al.

DEVELOPMENTAL CELL (2010)

Article Biochemistry & Molecular Biology

Exome sequencing: the sweet spot before whole genomes

Jamie K. Teer et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biotechnology & Applied Microbiology

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke et al.

NATURE BIOTECHNOLOGY (2009)

Article Multidisciplinary Sciences

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley et al.

NATURE (2008)

Article Biochemistry & Molecular Biology

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Helen R. Dawe et al.

HUMAN MOLECULAR GENETICS (2007)

Article Cell Biology

The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling

Megan G. Davey et al.

GENES & DEVELOPMENT (2006)