World Society of Child Science

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

• Abstract
• PDF 26 KB

Review Articles
Miriam Schmidts
Clinical genetics and pathobiology of ciliary chondrodysplasias

• Abstract
• PDF 725 KB

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

• Abstract
• PDF 333 KB

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

• Abstract
• PDF 241 KB

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

• Abstract
• PDF 752 KB

Shalabh Srivastava and John A. Sayer
Nephronophthisis

• Abstract
• PDF 256 KB

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

• Abstract
• PDF 198 KB

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

• Abstract
• PDF 320 KB