Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

por Kömhoff, Martin, Gracchi, Valentina, Dijkman, Henry, Beck, Bodo B., Monnens, Leo
Publicado 2023

Kidney Stones in Primary Hyperoxaluria: New Lessons Learnt

por Jacob, Dorrit E., Grohe, Bernd, Geßner, Michaela, Beck, Bodo B., Hoppe, Bernd
Publicado 2013

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

por Taylan, Christina, Wenzel, Andrea, Erger, Florian, Göbel, Heike, Weber, Lutz T., Beck, Bodo B.
Publicado 2020

Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and...

por Motyka, Rafał, Kołbuc, Marcin, Wierzchołowski, Wojciech, Beck, Bodo B., Towpik, Iwona Ewa, Zaniew, Marcin
Publicado 2021

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

por Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan, Berger, Rolf M. F., Kömhoff, Martin
Publicado 2016

The retinal phenotype in primary hyperoxaluria type 2 and 3

por Birtel, Johannes, Diederen, Roselie M., Herrmann, Philipp, Kaspar, Sophie, Beck, Bodo B., Garrelfs, Sander F., Hoppe, Bernd, Charbel Issa, Peter
Publicado 2022

cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA

por Erger, Florian, Nörling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nürnberg, Peter, Beck, Bodo B., Altmüller, Janine
Publicado 2020

Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited

por Kołbuc, Marcin, Bieniaś, Beata, Habbig, Sandra, Kołek, Mateusz F., Szczepańska, Maria, Kiliś-Pstrusińska, Katarzyna, Wasilewska, Anna, Adamczyk, Piotr, Motyka, Rafał, Tkaczyk, Marcin, Sikora, Przemysław, Beck, Bodo B., Zaniew, Marcin
Publicado 2021

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

por Bartram, Malte P., Mishra, Tripti, Reintjes, Nadine, Fabretti, Francesca, Gharbi, Hakam, Adam, Alexander C., Göbel, Heike, Franke, Mareike, Schermer, Bernhard, Haneder, Stefan, Benzing, Thomas, Beck, Bodo B., Müller, Roman-Ulrich
Publicado 2017

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

por Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
Publicado 2013

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care

por Lindemann, Christoph Heinrich, Wenzel, Andrea, Erger, Florian, Middelmann, Lea, Borde, Julika, Hahnen, Eric, Krauß, Denise, Oehm, Simon, Arjune, Sita, Todorova, Polina, Burgmaier, Kathrin, Liebau, Max Christoph, Grundmann, Franziska, Beck, Bodo B., Müller, Roman-Ulrich
Publicado 2022

Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling

por Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Köntges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B., Habbig, Sandra
Publicado 2021

Clinical profile of a Polish cohort of children and young adults with cystinuria

por Tkaczyk, Marcin, Gadomska-Prokop, Katarzyna, Załuska-Leśniewska, Iga, Musiał, Kinga, Zawadzki, Jan, Jobs, Katarzyna, Porowski, Tadeusz, Rogowska-Kalisz, Anna, Jander, Anna, Kirolos, Meritrafat, Haliński, Adam, Krzemień, Aleksandra, Sobieszczańska-Droździel, Aleksandra, Zachwieja, Katarzyna, Beck, Bodo B., Sikora, Przemysław, Zaniew, Marcin
Publicado 2020

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

por Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.
Publicado 2018

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

por Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine
Publicado 2022

Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes

por Odenthal, Johanna, Dittrich, Sebastian, Ludwig, Vivian, Merz, Tim, Reitmeier, Katrin, Reusch, Björn, Höhne, Martin, Cosgun, Zülfü C., Hohenadel, Maximilian, Putnik, Jovana, Göbel, Heike, Rinschen, Markus M., Altmüller, Janine, Koehler, Sybille, Schermer, Bernhard, Benzing, Thomas, Beck, Bodo B., Brinkkötter, Paul T., Habbig, Sandra, Bartram, Malte P.
Publicado 2022

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

por Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschênes, Georges, Franssen, Casper, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel J.S., Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre, Groothoff, Jaap W.
Publicado 2021

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

por Erger, Florian, Aryal, Rajindra P., Reusch, Björn, Matsumoto, Yasuyuki, Meyer, Robert, Zeng, Junwei, Knopp, Cordula, Noel, Maxence, Muerner, Lukas, Wenzel, Andrea, Kohl, Stefan, Tschernoster, Nikolai, Rappl, Gunter, Rouvet, Isabelle, Schröder-Braunstein, Jutta, Seibert, Felix S., Thiele, Holger, Häusler, Martin G., Weber, Lutz T., Büttner-Herold, Maike, Elbracht, Miriam, Cummings, Sandra F., Altmüller, Janine, Habbig, Sandra, Cummings, Richard D., Beck, Bodo B.
Publicado 2023

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

por Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Publicado 2016

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

por Metry, Elisabeth L., Garrelfs, Sander F., Deesker, Lisa J., Acquaviva, Cecile, D’Ambrosio, Viola, Bacchetta, Justine, Beck, Bodo B., Cochat, Pierre, Collard, Laure, Hogan, Julien, Ferraro, Pietro Manuel, Franssen, Casper F.M., Harambat, Jérôme, Hulton, Sally-Anne, Lipkin, Graham W., Mandrile, Giorgia, Martin-Higueras, Cristina, Mohebbi, Nilufar, Moochhala, Shabbir H., Neuhaus, Thomas J., Prikhodina, Larisa, Salido, Eduardo, Topaloglu, Rezan, Oosterveld, Michiel J.S., Groothoff, Jaap W., Peters-Sengers, Hessel
Publicado 2023