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Human Mutation|July 2, 2021
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al.American Journal of Human Genetics|July 27, 2022
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosisHugo Lemoine, Loann Raud, François Foulquier, et al.Proceedings of the National Academy of Sciences of the United States of America|August 10, 2022
An intermediate-effect size variant in UMOD confers risk for chronic kidney diseaseEric Olinger, Céline Schaeffer, Kendrah Kidd, et al.BMC Nephrology|December 19, 2024
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational studyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational StudyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.Kidney International|May 26, 2020
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Eric Olinger, Patrick Hofmann, Kendrah Kidd, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 28, 2024
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140Nikola Zagorec, Alizée Calamel, Margaux Delaporte, et al.American Journal of Human Genetics|December 10, 2021
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotypeSarah R Senum, Ying Sabrina M Li, Katherine A Benson, et al.Journal of the American Society of Nephrology : JASN|March 1, 2022
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of UromodulinChristina B Joseph, Marta Mariniello, Ayumi Yoshifuji, et al.Nephron|November 27, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.Pageof 6