Volume 3, Number 2, Year 2014

Special Issue: Ciliopathies

Guest Editors: Dr. Dorus A. Mans and Dr. Heleen H. Arts

Guest Editorial
Dorus A. Mans and Heleen H. Arts
Medical genetics of ciliopathies

Review Articles
Miriam Schmidts
Clinical genetics and pathobiology of ciliary chondrodysplasias

Katarzyna Szymanska, Verity L. Hartill, and Colin A. Johnson
Unraveling the genetics of Joubert and Meckel-Gruber syndromes

Tamar I. de Vries and Mieke M. van Haelst
Ciliary disturbances in syndromal and non-syndromal obesity

Lisa M. Guay-Woodford
Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases

Shalabh Srivastava and John A. Sayer

Tamara Paff, Johannes M.A. Daniels, Gerard Pals, and Eric G. Haarman
Primary ciliary dyskinesia: From diagnosis to molecular mechanisms

Timothy D. Klasson and Rachel H. Giles
The role of the cilium in hereditary tumor predisposition syndromes