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Kidney International Reports|June 25, 2021
Identification of a Locus on the X Chromosome Linked to Familial Membranous NephropathyMallory L Downie, Sanjana Gupta, Mehmet C Tekman, et al.
The Journal of Clinical Endocrinology and Metabolism|May 23, 2018
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal ChondrodysplasiaHiroshi Saito, Hiroshi Noda, Philippe Gatault, et al.
The New England Journal of Medicine|April 20, 2012
Integrin α3 mutations with kidney, lung, and skin diseaseCristina Has, Giuseppina Spartà, Dimitra Kiritsi, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 24, 2010
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel functionMarkus Reichold, Anselm A Zdebik, Evelyn Lieberer, et al.
Glomerular Diseases|April 24, 2023
A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous NephropathySanjana Gupta, Mallory Lorraine Downie, Chris Cheshire, et al.
The Journal of Clinical Endocrinology and Metabolism|October 13, 2018
A New Multisystem Disorder Caused by the Gαs Mutation p.F376VHeike Biebermann, Gunnar Kleinau, Dirk Schnabel, et al.
Kidney International|September 24, 2017
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies ConferenceSégolène Aymé, Detlef Bockenhauer, Simon Day, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.
Kidney International Reports|August 7, 2023
Common Risk Variants in <i>AHI1</i> Are Associated With Childhood Steroid Sensitive Nephrotic SyndromeMallory L Downie, Sanjana Gupta, Catalin Voinescu, et al.
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