檢索結果 - Halbritter, Jan

Isolated Renal Relapse of Sarcoidosis under Low-Dose Glucocorticoid Therapy 由 Mayer, Christof, Müller, Angela, Halbritter, Jan, Wirtz, Hubert, Stumvoll, Michael

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Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany 由 Halbritter, Jan, Seidel, Anna, Müller, Luise, Schönauer, Ria, Hoppe, Bernd

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Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation 由 Petzold, Friederike, Bachmann, Anette, Bergmann, Carsten, Helmchen, Udo, Halbritter, Jan

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Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin 由 Münch, Johannes, Grohmann, Maik, Lindner, Tom H., Bergmann, Carsten, Halbritter, Jan

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Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia 由 Petzold, Friederike, Jin, Wenjun, Hantmann, Elena, Korbach, Katharina, Schönauer, Ria, Halbritter, Jan

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Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome 由 Schönauer, Ria, Seidel, Anna, Grohmann, Maik, Lindner, Tom H., Bergmann, Carsten, Halbritter, Jan

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Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics 由 de Fallois, Jonathan, Schönauer, Ria, Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan

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Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies 由 Münch, Johannes, Bachmann, Anette, Grohmann, Maik, Mayer, Christof, Kirschfink, Michael, Lindner, Tom H, Bergmann, Carsten, Halbritter, Jan

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Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly 由 Sewerin, Sebastian, Piontek, Jörg, Schönauer, Ria, Grunewald, Sonja, Rauch, Angelika, Neuber, Steffen, Bergmann, Carsten, Günzel, Dorothee, Halbritter, Jan

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Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts 由 Tönjes, Anke, Wittenburg, Henning, Halbritter, Jan, Renner, Olga, Harsch, Simone, Stange, Eduard F, Lammert, Frank, Stumvoll, Michael, Kovacs, Peter

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Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting 由 Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan

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Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes 由 Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan

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The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development 由 Hoff, Sylvia, Epting, Daniel, Falk, Nathalie, Schroda, Sophie, Braun, Daniela A., Halbritter, Jan, Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Bergmann, Carsten, Walz, Gerd, Lienkamp, Soeren S.

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A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles 由 Bayraktar, Samet, Nehrig, Julian, Menis, Ekaterina, Karli, Kevser, Janning, Annette, Struk, Thaddäus, Halbritter, Jan, Michgehl, Ulf, Krahn, Michael P., Schuberth, Christian E., Pavenstädt, Hermann, Wedlich-Söldner, Roland

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Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome 由 Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E., Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A., Kari, Jameela A., Otto, Edgar A., Hildebrandt, Friedhelm

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Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations 由 Fearn, Amy, Allison, Benjamin, Rice, Sarah J., Edwards, Noel, Halbritter, Jan, Bourgeois, Soline, Pastor‐Arroyo, Eva M., Hildebrandt, Friedhelm, Tasic, Velibor, Wagner, Carsten A., Hernando, Nati, Sayer, John A., Werner, Andreas

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Acute kidney injury and its progression in hospitalized patients—Results from a retrospective multicentre cohort study with a digital decision support system 由 Kister, Thea Sophie, Remmler, Johannes, Schmidt, Maria, Federbusch, Martin, Eckelt, Felix, Isermann, Berend, Richter, Heike, Wehner, Markus, Krause, Uwe, Halbritter, Jan, Cundius, Carina, Voigt, Markus, Kehrer, Alexander, Telle, Jörg Michael, Kaiser, Thorsten

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Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment 由 Schönauer, Ria, Jin, Wenjun, Ertel, Anastasia, Nemitz-Kliemchen, Melanie, Panitz, Nydia, Hantmann, Elena, Seidel, Anna, Braun, Daniela A., Shril, Shirlee, Hansen, Matthias, Shahzad, Khurrum, Sandford, Richard, Saunier, Sophie, Benmerah, Alexandre, Bergmann, Carsten, Hildebrandt, Friedhelm, Halbritter, Jan

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Mutation of the Mg(2+) Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype 由 Hurd, Toby W., Otto, Edgar A., Mishima, Eikan, Gee, Heon Yung, Inoue, Hana, Inazu, Masato, Yamada, Hideomi, Halbritter, Jan, Seki, George, Konishi, Masato, Zhou, Weibin, Yamane, Tsutomo, Murakami, Satoshi, Caridi, Gianluca, Ghiggeri, Gianmarco, Abe, Takaaki, Hildebrandt, Friedhelm

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Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis 由 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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