Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in theINVS/NPHP2gene

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

(2011) A Shoemark et al.   JOURNAL OF CLINICAL PATHOLOGY

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

(2010) Salvatore Bellavia et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

(2009) Kálmán Tory et al.   KIDNEY INTERNATIONAL

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

(2007) Edgar A. Otto et al.   HUMAN MUTATION