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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
Published in:
2010
By:
- F.^O'Toole, John;
- Liu, Yangjian;
- Davis, Erica E.;
- Westlake, Christopher J.;
- Attanasio, Massimo;
- Otto, Edgar A.;
- Seelow, Dominik;
- Nurnberg, Gudrun;
- Becker, Christian;
- Nuutinen, Matti;
- Kärppä, Mikko;
- Ignatius, Jaakko;
- Uusimaa, Johanna;
- Pakanen, Salla;
- Jaakkola, Elisa;
- van^den^Heuvel, Lambertus P.;
- Fehrenbach, Henry;
- Wiggins, Roger;
- Goyal, Meera;
- Zhou, Weibin
Publication type:
journal article
An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease.
Published in:
PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116680
By:
- Eisenberger, Tobias;
- Decker, Christian;
- Hiersche, Milan;
- Hamann, Ruben C.;
- Decker, Eva;
- Neuber, Steffen;
- Frank, Valeska;
- Bolz, Hanno J.;
- Fehrenbach, Henry;
- Pape, Lars;
- Toenshoff, Burkhard;
- Mache, Christoph;
- Latta, Kay;
- Bergmann, Carsten
Publication type:
Article
Correction to: Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy—DiaSport.
Published in:
2021
By:
- Feldkötter, Markus;
- Thys, Sarah;
- Adams, Anne;
- Becker, Ingrid;
- Büscher, Rainer;
- Pohl, Martin;
- Schild, Raphael;
- Pape, Lars;
- Schmitt, Claus Peter;
- Taylan, Christina;
- Wygoda, Simone;
- Klaus, Günter;
- Fehrenbach, Henry;
- Montoya, Carmen;
- Konrad, Martin;
- Billing, Heiko;
- Schaar, Bettina;
- Hoppe, Bernd
Publication type:
Correction Notice
Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy—DiaSport.
Published in:
Pediatric Nephrology, 2021, v. 36, n. 12, p. 3923, doi. 10.1007/s00467-021-05114-8
By:
- Feldkötter, Markus;
- Thys, Sarah;
- Adams, Anne;
- Becker, Ingrid;
- Büscher, Rainer;
- Pohl, Martin;
- Schild, Raphael;
- Pape, Lars;
- Schmitt, Claus Peter;
- Taylan, Christina;
- Wygoda, Simone;
- Klaus, Günter;
- Fehrenbach, Henry;
- Montoya, Carmen;
- Konrad, Martin;
- Billing, Heiko;
- Schaar, Bettina;
- Hoppe, Bernd
Publication type:
Article
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 2, p. 162, doi. 10.1038/ejhg.2012.139
By:
- Beck, Bodo B;
- Baasner, Anne;
- Buescher, Anja;
- Habbig, Sandra;
- Reintjes, Nadine;
- Kemper, Markus J;
- Sikora, Przemyslaw;
- Mache, Christoph;
- Pohl, Martin;
- Stahl, Mirjam;
- Toenshoff, Burkhard;
- Pape, Lars;
- Fehrenbach, Henry;
- Jacob, Dorrit E;
- Grohe, Bernd;
- Wolf, Matthias T;
- Nürnberg, Gudrun;
- Yigit, Gökhan;
- Salido, Eduardo C;
- Hoppe, Bernd
Publication type:
Article
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 6, p. 2375, doi. 10.1172/JCI79504
By:
- Heon Yung Gee;
- Fujian Zhang;
- Ashraf, Shazia;
- Kohl, Stefan;
- Sadowski, Carolin E.;
- Vega-Warner, Virginia;
- Weibin Zhou;
- Lovric, Svjetlana;
- Fang, Humphrey;
- Nettleton, Margaret;
- Jun-yi Zhu;
- Hoefele, Julia;
- Weber, Lutz T.;
- Podracka, Ludmila;
- Boor, Andrej;
- Fehrenbach, Henry;
- Innis, Jeffrey W.;
- Washburn, Joseph;
- Levy, Shawn;
- Lifton, Richard P.
Publication type:
Article
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial.
Published in:
Clinical Genetics, 2021, v. 99, n. 1, p. 143, doi. 10.1111/cge.13861
By:
- Boeckhaus, Jan;
- Hoefele, Julia;
- Riedhammer, Korbinian M.;
- Tönshoff, Burkhard;
- Ehren, Rasmus;
- Pape, Lars;
- Latta, Kay;
- Fehrenbach, Henry;
- Lange‐Sperandio, Baerbel;
- Kettwig, Matthias;
- Hoyer, Peter;
- Staude, Hagen;
- Konrad, Martin;
- John, Ulrike;
- Gellermann, Jutta;
- Hoppe, Bernd;
- Galiano, Matthias;
- Gessner, Michaela;
- Pohl, Michael;
- Bergmann, Carsten
Publication type:
Article
Steroid withdrawal improves blood pressure control and nocturnal dipping in pediatric renal transplant recipients: analysis of a prospective, randomized, controlled trial.
Published in:
Pediatric Nephrology, 2019, v. 34, n. 2, p. 341, doi. 10.1007/s00467-018-4069-1
By:
- Höcker, Britta;
- Weber, Lutz T.;
- John, Ulrike;
- Drube, Jens;
- Fehrenbach, Henry;
- Klaus, Günter;
- Pohl, Martin;
- Seeman, Tomáš;
- Fichtner, Alexander;
- Wühl, Elke;
- Tönshoff, Burkhard
Publication type:
Article
Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 2, p. 277, doi. 10.1007/s00467-017-3794-1
By:
- Hennies, Imke;
- Gimpel, Charlotte;
- Gellermann, Jutta;
- Möller, Kristina;
- Mayer, Brigitte;
- Dittrich, Katalin;
- Büscher, Anja K.;
- Hansen, Matthias;
- Aulbert, Wiebke;
- Wühl, Elke;
- Nissel, Richard;
- Schalk, Gessa;
- Weber, Lutz T.;
- Pohl, Michael;
- Wygoda, Simone;
- Beetz, Rolf;
- Klaus, Günter;
- Fehrenbach, Henry;
- König, Sabine;
- Staude, Hagen
Publication type:
Article
Febrile urinary tract infection after pediatric kidney transplantation: a multicenter, prospective observational study.
Published in:
Pediatric Nephrology, 2016, v. 31, n. 6, p. 1021, doi. 10.1007/s00467-015-3292-2
By:
- Weigel, Friederike;
- Lemke, Anja;
- Tönshoff, Burkhard;
- Pape, Lars;
- Fehrenbach, Henry;
- Henn, Michael;
- Hoppe, Bernd;
- Jungraithmayr, Therese;
- Konrad, Martin;
- Laube, Guido;
- Pohl, Martin;
- Seeman, Tomáš;
- Staude, Hagen;
- Kemper, Markus;
- John, Ulrike
Publication type:
Article
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Published in:
2014
By:
- Fehrenbach, Henry;
- Decker, Christian;
- Eisenberger, Tobias;
- Frank, Valeska;
- Hampel, Tobias;
- Walden, Ulrike;
- Amann, Kerstin;
- Krüger-Stollfuß, Ingrid;
- Bolz, Hanno;
- Häffner, Karsten;
- Pohl, Martin;
- Bergmann, Carsten
Publication type:
Report
Increased incidence of adenoidectomy and tonsillectomy in children with renal transplantation.
Published in:
Pediatric Nephrology, 2014, v. 29, n. 8, p. 1441, doi. 10.1007/s00467-014-2775-x
By:
- Gimpel, Charlotte;
- Heinrich, Annika;
- Fehrenbach, Henry;
- Pfeiffer, Jens;
- Pisarski, Przemyslaw;
- Pohl, Martin
Publication type:
Article
Markers of childhood lupus nephritis indicating disease activity.
Published in:
Pediatric Nephrology, 2011, v. 26, n. 3, p. 401, doi. 10.1007/s00467-010-1720-x
By:
- Edelbauer, Monika;
- Kshirsagar, Sudhir;
- Riedl, Magdalena;
- Haffner, Dieter;
- Billing, Heiko;
- Tönshoff, Burkhard;
- Ross, Sophia;
- Dötsch, Jörg;
- Amon, Oliver;
- Fehrenbach, Henry;
- Steuber, Christian;
- Beissert, Antje;
- Hager, Josef;
- Wechselberger, Gottfried;
- Weber, Lutz;
- Zimmerhackl, Lothar
Publication type:
Article
Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes.
Published in:
Cells (2073-4409), 2023, v. 12, n. 9, p. 1333, doi. 10.3390/cells12091333
By:
- Boeckhaus, Jan;
- Mohr, Lea;
- Dihazi, Hassan;
- Tönshoff, Burkhard;
- Weber, Lutz T.;
- Pape, Lars;
- Latta, Kay;
- Fehrenbach, Henry;
- Lange-Sperandio, Baerbel;
- Kettwig, Matthias;
- Staude, Hagen;
- König, Sabine;
- John-Kroegel, Ulrike;
- Gellermann, Jutta;
- Hoppe, Bernd;
- Galiano, Matthias;
- Haffner, Dieter;
- Rhode, Heidrun;
- Gross, Oliver
Publication type:
Article
(Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation.
Published in:
Transplant International, 2012, v. 25, n. 7, p. 723, doi. 10.1111/j.1432-2277.2012.01485.x
By:
- Höcker, Britta;
- Böhm, Stephan;
- Fickenscher, Helmut;
- Küsters, Uta;
- Schnitzler, Paul;
- Pohl, Martin;
- John, Ulrike;
- Kemper, Markus J.;
- Fehrenbach, Henry;
- Wigger, Marianne;
- Holder, Martin;
- Schröder, Monika;
- Feneberg, Reinhard;
- Köpf-Shakib, Sabine;
- Tönshoff, Burkhard
Publication type:
Article
Improved growth and cardiovascular risk after late steroid withdrawal: 2-year results of a prospective, randomised trial in paediatric renal transplantation.
Published in:
Nephrology Dialysis Transplantation, 2010, v. 25, n. 2, p. 617, doi. 10.1093/ndt/gfp506
By:
- Höcker, Britta;
- Weber, Lutz T.;
- Feneberg, Reinhard;
- Drube, Jens;
- John, Ulrike;
- Fehrenbach, Henry;
- Pohl, Martin;
- Zimmering, Miriam;
- Fründ, Stefan;
- Klaus, Günter;
- Wühl, Elke;
- Tönshoff, Burkhard
Publication type:
Article
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
Published in:
Journal of the Peripheral Nervous System, 2015, v. 20, n. 1, p. 52, doi. 10.1111/jns.12106
By:
- Roos, Andreas;
- Weis, Joachim;
- Korinthenberg, Rudolf;
- Fehrenbach, Henry;
- Häusler, Martin;
- Züchner, Stephan;
- Mache, Christoph;
- Hubmann, Holger;
- Auer‐Grumbach, Michaela;
- Senderek, Jan
Publication type:
Article
Epidemiology and Morbidity of Epstein-Barr Virus Infection in Pediatric Renal Transplant Recipients: A Multicenter, Prospective Study.
Published in:
Clinical Infectious Diseases, 2013, v. 56, n. 1, p. 84, doi. 10.1093/cid/cis823
By:
- Höcker, Britta;
- Fickenscher, Helmut;
- Delecluse, Henri-Jacques;
- Böhm, Stephan;
- Küsters, Uta;
- Schnitzler, Paul;
- Pohl, Martin;
- John, Ulrike;
- Kemper, Markus J.;
- Fehrenbach, Henry;
- Wigger, Marianne;
- Holder, Martin;
- Schröder, Monika;
- Billing, Heiko;
- Fichtner, Alexander;
- Feneberg, Reinhard;
- Sander, Anja;
- Köpf-Shakib, Sabine;
- Süsal, Caner;
- Tönshoff, Burkhard
Publication type:
Article

Found: 18