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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.The Journal of Clinical Investigation|December 16, 2024
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptorsSilvana Bazua-Valenti, Matthew R Brown, Jason Zavras, et al.American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, 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.Nature Genetics|June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.Nephron|November 27, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.Kidney International Reports|September 21, 2020
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD MutationsKendrah Kidd, Petr Vylet'al, Céline Schaeffer, et al.Pageof 17