DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 02 · Volume 03 · Juni 2014 DOI: 10.1055/s-005-29733 Ciliopathies

Guest Editorial

047
Mans, Dorus A.; Arts, Heleen H.: Medical genetics of ciliopathies

Review Article

049
Schmidts, Miriam: Clinical genetics and pathobiology of ciliary chondrodysplasias
065
Szymanska, Katarzyna; Hartill, Verity L.; Johnson, Colin A.: Unraveling the genetics of Joubert and Meckel-Gruber syndromes
079
de Vries, Tamar I.; van Haelst, Mieke M.: Ciliary disturbances in syndromal and non-syndromal obesity
089
Guay-Woodford, Lisa M.: Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases
103
Srivastava, Shalabh; Sayer, John A.: Nephronophthisis
115
Paff, Tamara; Daniels, Johannes M.A.; Pals, Gerard; Haarman, Eric G.: Primary ciliary dyskinesia: From diagnosis to molecular mechanisms
129
Klasson, Timothy D.; Giles, Rachel H.: The role of the cilium in hereditary tumor predisposition syndromes