Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Ben Moshe Y et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia.
Suizu F et al.
The Embo Journal, 2016
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM et al.
American Journal of Medical Genetics. Part A, 2014
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.
Onoe T et al.
The American Journal of Case Reports, 2013
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Bellavia S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K et al.
Kidney International, 2009
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA et al.
Nature Genetics, 2003
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