Long-Term Outcomes in IgA Nephropathy von Pitcher, David, Braddon, Fiona, Hendry, Bruce, Mercer, Alex, Osmaston, Kate, Saleem, Moin A, Steenkamp, Retha, Wong, Katie, Turner, A Neil, Wang, Kaijun, Gale, Daniel P, Barratt, Jonathan

Volltext

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

Volltext

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature von Kavanagh, David, McGlasson, Sarah, Jury, Alexa, Williams, Jac, Scolding, Neil, Bellamy, Chris, Gunther, Claudia, Ritchie, Diane, Gale, Daniel P., Kanwar, Yashpal S., Challis, Rachel, Buist, Holly, Overell, James, Weller, Belinda, Flossmann, Oliver, Blunden, Mark, Meyer, Eric P., Krucker, Thomas, Evans, Stephen J.W., Campbell, Iain L., Jackson, Andrew P., Chandran, Siddharthan, Hunt, David P.J.

Volltext

How benign is hematuria? Using genetics to predict prognosis von Gale, Daniel P.

Volltext

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy von Levine, Adam P, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Wong, Edwin K S, Cook, H Terence, Ashford, Sofie, Carss, Keren, Christian, Martin T, Hall, Matthew, Harris, Claire Louise, McAlinden, Paul, Marchbank, Kevin J, Marks, Stephen D, Maxwell, Heather, Megy, Karyn, Penkett, Christopher J, Mozere, Monika, Stirrups, Kathleen E, Tuna, Salih, Wessels, Julie, Whitehorn, Deborah, Johnson, Sally A, Gale, Daniel P

Volltext

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis von Gale, Daniel P, MRCP, de Jorge, Elena Goicoechea, PhD, Cook, H Terence, Prof, Martinez-Barricarte, Rubén, PhD, Hadjisavvas, Andreas, PhD, McLean, Adam G, FRCP, Pusey, Charles D, Prof, Pierides, Alkis, FRCP, Kyriacou, Kyriacos, PhD, Athanasiou, Yiannis, MD, Voskarides, Konstantinos, PhD, Deltas, Constantinos, Prof, Palmer, Andrew, FRCP, Frémeaux-Bacchi, Véronique, PhD, de Cordoba, Santiago Rodriguez, Prof, Maxwell, Patrick H, Prof, Pickering, Matthew C, Prof

Volltext

The 2019 and 2021 International Workshops on Alport Syndrome von Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra

Volltext

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general populati... von Voskarides, Konstantinos, Stefanou, Charalambos, Pieri, Myrtani, Demosthenous, Panayiota, Felekkis, Kyriakos, Arsali, Maria, Athanasiou, Yiannis, Xydakis, Dimitris, Stylianou, Kostas, Daphnis, Eugenios, Goulielmos, Giorgos, Loizou, Petros, Savige, Judith, Höhne, Martin, Völker, Linus A, Benzing, Thomas, Maxwell, Patrick H, Gale, Daniel P, Gorski, Mathias, Böger, Carsten, Kollerits, Barbara, Kronenberg, Florian, Paulweber, Bernhard, Zavros, Michalis, Pierides, Alkis, Deltas, Constantinos

Volltext

Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factors von Volke, Melanie, Gale, Daniel P, Maegdefrau, Ulrike, Schley, Gunnar, Klanke, Bernd, Bosserhoff, Anja-Katrin, Maxwell, Patrick H, Eckardt, Kai-Uwe, Warnecke, Christina

Volltext

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis von Lin, Fu-Jun, Yao, Lei, Hu, Xue-Qing, Bian, Fan, Ji, Gang, Jiang, Geng-Ru, Gale, Daniel P, Ren, Hong-Qi

Volltext

The 2014 International Workshop on Alport Syndrome von Miner, Jeffrey H., Baigent, Colin, Flinter, Frances, Gross, Oliver, Judge, Parminder, Kashtan, Clifford E., Lagas, Sharon, Savige, Judith, Blatt, Dave, Ding, Jie, Gale, Daniel P., Midgley, Julian P., Povey, Sue, Prunotto, Marco, Renault, Daniel, Skelding, Jules, Turner, A. Neil, Gear, Susie

Volltext

Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees von Athanasiou, Yiannis, Voskarides, Konstantinos, Gale, Daniel P, Damianou, Loukas, Patsias, Charalambos, Zavros, Michalis, Maxwell, Patrick H, Cook, H Terence, Demosthenous, Panayiota, Hadjisavvas, Andreas, Kyriacou, Kyriacos, Zouvani, Ioanna, Pierides, Alkis, Deltas, Constantinos

Volltext

Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura von Stubbs, Matthew J, Coppo, Paul, Cheshire, Chris, Veyradier, Agnès, Dufek, Stephanie, Levine, Adam P, Thomas, Mari, Patel, Vaksha, Connolly, John O, Hubank, Michael, Benhamou, Ygal, Galicier, Lionel, Poullin, Pascale, Kleta, Robert, Gale, Daniel P, Stanescu, Horia, Scully, Marie A

Volltext

Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin von ASHBY, Damien R, GALE, Daniel P, MAXWELL, Patrick H, CHOI, Peter, BUSBRIDGE, Mark, MURPHY, Kevin G, DUNCAN, Neill D, CAIRNS, Tom D, TAUBE, David H, BLOOM, Stephen R, TAM, Frederick W. K, CHAPMAN, Richard

Volltext

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease von Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G, Pengelly, Reuben J, Gale, Daniel P, Connor, Thomas M, Bunyan, David J, Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G

Volltext

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome von Gibson, Joel, Fieldhouse, Rachel, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Burnett, Leslie, Izzi, Valerio, Persikov, Anton V, Gale, Daniel P, Storey, Helen, Savige, Judy

Volltext

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD) von Dudley, Jan, Winyard, Paul, Marlais, Matko, Cuthell, Oliver, Harris, Tess, Chong, Jiehan, Sayer, John, Gale, Daniel P, Moore, Lucy, Turner, Kay, Burrows, Sarah, Sandford, Richard

Volltext

IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank von Sukcharoen, Kittiya, Sharp, Seth A., Thomas, Nicholas J., Kimmitt, Robert A., Harrison, Jamie, Bingham, Coralie, Mozere, Monika, Weedon, Michael N., Tyrrell, Jessica, Barratt, Jonathan, Gale, Daniel P., Oram, Richard A.

Volltext

Expert consensus guidelines for the genetic diagnosis of Alport syndrome von Savige, Judy, Ariani, Francesca, Mari, Francesca, Bruttini, Mirella, Renieri, Alessandra, Gross, Oliver, Deltas, Constantinos, Flinter, Frances, Ding, Jie, Gale, Daniel P., Nagel, Mato, Yau, Michael, Shagam, Lev, Torra, Roser, Ars, Elisabet, Hoefele, Julia, Garosi, Guido, Storey, Helen

Volltext

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care von Annear, Nicholas M. P., Appleton, Richard E., Bassi, Zahabiyah, Bhatt, Rupesh, Bolton, Patrick F., Crawford, Pamela, Crowe, Alex, Tossi, Maureen, Elmslie, Frances, Finlay, Eric, Gale, Daniel P., Henderson, Alex, Jones, Elizabeth A., Johnson, Simon R., Joss, Shelagh, Kerecuk, Larissa, Lipkin, Graham, Morrison, Patrick J., O'Callaghan, Finbar J., Cadwgan, Jill, Ong, Albert C. M., Sampson, Julian R., Shepherd, Charles, Kingswood, J. Chris

Volltext