Associated Papers
Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
Song JR et al.
Genes, 2025
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J et al.
American Journal of Ophthalmology, 2023
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Utility of Genomic Testing after Renal Biopsy.
Murray SL et al.
American Journal of Nephrology, 2020
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
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
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Otto EA et al.
Human Mutation, 2008
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
Hildebrandt F et al.
Kidney International, 2001
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