Search Results - Halbritter, Jan

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  1. 1
    Isolated Renal Relapse of Sarcoidosis under Low-Dose Glucocorticoid Therapy

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

    Published 2008
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  2. 2
    Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany

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

    Published 2018
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  3. 3
    Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

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

    Published 2019
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  4. 4
    Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin

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

    Published 2016
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  5. 5
    Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

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

    Published 2022
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  6. 6
    Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

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

    Published 2019
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  7. 7
    Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

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

    Published 2021
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  8. 8
    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

    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 by Münch, Johannes, Bachmann, Anette, Grohmann, Maik, Mayer, Christof, Kirschfink, Michael, Lindner, Tom H, Bergmann, Carsten, Halbritter, Jan

    Published 2017
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  9. 9
    Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

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

    Published 2021
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  10. 10
    Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

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

    Published 2011
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  11. 11
    Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

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

    Published 2019
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  12. 12
    Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

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

    Published 2020
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  13. 13
    The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

    The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development by 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.

    Published 2018
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  14. 14
    A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles

    A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles by 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

    Published 2020
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  15. 15
    Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

    Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome by 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

    Published 2014
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  16. 16
    Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

    Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations by 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

    Published 2018
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  17. 17
    Acute kidney injury and its progression in hospitalized patients—Results from a retrospective multicentre cohort study with a digital decision support system

    Acute kidney injury and its progression in hospitalized patients—Results from a retrospective multicentre cohort study with a digital decision support system by 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

    Published 2021
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  18. 18
    Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

    Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment by 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

    Published 2020
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  19. 19
    Mutation of the Mg(2+) Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

    Mutation of the Mg(2+) Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype by 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

    Published 2013
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  20. 20
    Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

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

    Published 2015
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