Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis von Sayer, John A

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Re: Genetic Architecture of Azoospermia—Time to Advance the Standard of Care von Sayer, John A.

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease von Mabillard, Holly, Sayer, John A, Olinger, Eric

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SGLT2 inhibitors - a potential treatment for Alport syndrome von Mabillard, Holly, Sayer, John A.

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The challenges of diagnosis and management of Gitelman syndrome von Urwin, Stephanie, Willows, Jamie, Sayer, John A.

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An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the Europe... von Müller, Roman-Ulrich, Messchendorp, A Lianne, Birn, Henrik, Capasso, Giovambattista, Cornec-Le Gall, Emilie, Devuyst, Olivier, van Eerde, Albertien, Guirchoun, Patrick, Harris, Tess, Hoorn, Ewout J, Knoers, Nine V A M, Korst, Uwe, Mekahli, Djalila, Le Meur, Yannick, Nijenhuis, Tom, Ong, Albert C M, Sayer, John A, Schaefer, Franz, Servais, Aude, Tesar, Vladimir, Torra, Roser, Walsh, Stephen B, Gansevoort, Ron T

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The Molecular Genetics of Gordon Syndrome von Mabillard, Holly, Sayer, John A

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Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases von Geraghty, Robert, Olinger, Eric, Sayer, John A.

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Renal ciliopathies von Devlin, Laura A, Sayer, John A

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Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders von Molinari, Elisa, Sayer, John A.

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Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition von Dickson, Fay J., Sayer, John A.

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Molecular genetics of renal ciliopathies von Barroso-Gil, Miguel, Olinger, Eric, Sayer, John A.

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 von Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G., Gale, Daniel P., Goffin, Eric, Hodaňová, Kateřina, Huynh-Do, Uyen, Kistler, Andreas, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A., Torra, Roser, Venzin, Christina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J., Devuyst, Olivier

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Kidney traits on repeat—the role of MUC1 VNTR von Olinger, Eric, Wilson, Ian, Devuyst, Olivier, Sayer, John A.

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Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model von Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition von Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.

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Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies von Dewhurst, Rebecca Marie, Molinari, Elisa, Sayer, John A.

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Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders von Srivastava, Shalabh, Molinari, Elisa, Raman, Shreya, Sayer, John A

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Regarding “Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis” von Geraghty, Robert M., Wilson, Ian, Sayer, John A.

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis von Halbritter, Jan, Baum, Michelle, Hynes, Ann Marie, Rice, Sarah J, Thwaites, David T, Gucev, Zoran S, Fisher, Brittany, Spaneas, Leslie, Porath, Jonathan D, Braun, Daniela A, Wassner, Ari J, Nelson, Caleb P, Tasic, Velibor, Sayer, John A, Hildebrandt, Friedhelm

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