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ArticlesPeer ReviewedFull Text
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2020-06, Vol.12 (1), p.54-54, Article 54
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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-03, Vol.8 (1), p.4170-12, Article 4170
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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
Author / Creator:Ekici, Arif B. ; Hackenbeck, Thomas ; Morinière, Vincent ; Pannes, Andrea ; Buettner, Maike ; Uebe, Steffen ; Janka, Rolf ; Wiesener, Antje ; Hermann, Ingo ; Grupp, Sina ; Hornberger, Martin ; Huber, Tobias B. ; Isbel, Nikky ; Mangos, George ; McGinn, Stella ; Soreth-Rieke, Daniela ; Beck, Bodo B. ; Uder, Michael ; Amann, Kerstin ; Antignac, Corinne ; Reis, André ; Eckardt, Kai-Uwe ; Wiesener, Michael S.
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2014-09, Vol.86 (3), p.589-599
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Kidney stones in primary hyperoxaluria: new lessons learnt
Author / Creator:Jacob, Dorrit E ; Grohe, Bernd ; Geßner, Michaela ; Beck, Bodo B ; Hoppe, Bernd
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e70617-e70617
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Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities
Author / Creator:Hackl, Agnes ; Mehler, Katrin ; Gottschalk, Ingo ; Vierzig, Anne ; Eydam, Marcus ; Hauke, Jan ; Beck, Bodo B. ; Liebau, Max C. ; Ensenauer, Regina ; Weber, Lutz T. ; Habbig, Sandra
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2017-05, Vol.32 (5), p.791-800
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A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-10, Vol.8 (10), p.e76414-e76414
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Clinical profile of a Polish cohort of children and young adults with cystinuria
Author / Creator:Tkaczyk, Marcin ; Gadomska-Prokop, Katarzyna ; Załuska-Leśniewska, Iga ; Musiał, Kinga ; Zawadzki, Jan ; Jobs, Katarzyna ; Porowski, Tadeusz ; Rogowska-Kalisz, Anna ; Jander, Anna ; Kirolos, Merit ; Haliński, Adam ; Krzemień, Aleksandra ; Sobieszczańska-Droździel, Aleksandra ; Zachwieja, Katarzyna ; Beck, Bodo B. ; Sikora, Przemysław ; Zaniew, Marcin
Publisher:England: Taylor & Francis
Journal title:Renal failure, 2021-01, Vol.43 (1), p.62-70
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Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis
Author / Creator:Jobst-Schwan, Tilman ; Pannes, Andrea ; Schlingmann, Karl Peter ; Eckardt, Kai-Uwe ; Beck, Bodo B. ; Wiesener, Michael S.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Kidney & blood pressure research, 2015-01, Vol.40 (5), p.443-451
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Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer
Author / Creator: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
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2017-05, Vol.18 (1), p.53-53, Article 53
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The primary hyperoxalurias
Author / Creator:Hoppe, Bernd ; Beck, Bodo B. ; Milliner, Dawn S.
Publisher:Basingstoke: Elsevier Inc
Journal title:Kidney international, 2009-06, Vol.75 (12), p.1264-1271
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A new era of treatment for primary hyperoxaluria type 1
Author / Creator:Erger, Florian ; Beck, Bodo B.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Nephrology, 2021-09, Vol.17 (9), p.573-574
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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Author / Creator:Groothoff, Jaap W. ; Metry, Ella ; Deesker, Lisa ; Garrelfs, Sander ; Acquaviva, Cecile ; Almardini, Reham ; Beck, Bodo B. ; Boyer, Olivia ; Cerkauskiene, Rimante ; Ferraro, Pietro Manuel ; Groen, Luitzen A. ; Gupta, Asheeta ; Knebelmann, Bertrand ; Mandrile, Giorgia ; Moochhala, Shabbir S. ; Prytula, Agnieszka ; Putnik, Jovana ; Rumsby, Gill ; Soliman, Neveen A. ; Somani, Bhaskar ; Bacchetta, Justine
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Nephrology, 2023-03, Vol.19 (3), p.194-211
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Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
Author / Creator:Kömhoff, Martin ; Gracchi, Valentina ; Dijkman, Henry ; Beck, Bodo B. ; Monnens, Leo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2024-01, Vol.39 (1), p.125-129
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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type
Author / Creator:Mandrile, Giorgia ; van Woerden, Christiaan S. ; Berchialla, Paola ; Beck, Bodo B. ; Acquaviva Bourdain, Cécile ; Hulton, Sally-Anne ; Rumsby, Gill
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2014-12, Vol.86 (6), p.1197-1204
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Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations
Author / Creator:Laghmani, Kamel ; Beck, Bodo B ; Yang, Sung-Sen ; Seaayfan, Elie ; Wenzel, Andrea ; Reusch, Björn ; Vitzthum, Helga ; Priem, Dario ; Demaretz, Sylvie ; Bergmann, Klasien ; Duin, Leonie K ; Göbel, Heike ; Mache, Christoph ; Thiele, Holger ; Bartram, Malte P ; Dombret, Carlos ; Altmüller, Janine ; Nürnberg, Peter ; Benzing, Thomas ; Levtchenko, Elena ; Seyberth, Hannsjörg W ; Klaus, Günter ; Yigit, Gökhan ; Lin, Shih-Hua ; Timmer, Albert ; de Koning, Tom J ; Scherjon, Sicco A ; Schlingmann, Karl P ; Bertrand, Mathieu J.M ; Rinschen, Markus M ; de Backer, Olivier ; Konrad, Martin ; Kömhoff, Martin
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2016-05, Vol.374 (19), p.1853-1863
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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Author / Creator:Gee, Heon Yung ; Saisawat, Pawaree ; Ashraf, Shazia ; Hurd, Toby W ; Vega-Warner, Virginia ; Fang, Humphrey ; Beck, Bodo B ; Gribouval, Olivier ; Zhou, Weibin ; Diaz, Katrina A ; Natarajan, Sivakumar ; Wiggins, Roger C ; Lovric, Svjetlana ; Chernin, Gil ; Schoeb, Dominik S ; Ovunc, Bugsu ; Frishberg, Yaacov ; Soliman, Neveen A ; Fathy, Hanan M ; Goebel, Heike ; Hoefele, Julia ; Weber, Lutz T ; Innis, Jeffrey W ; Faul, Christian ; Han, Zhe ; Washburn, Joseph ; Antignac, Corinne ; Levy, Shawn ; Otto, Edgar A ; Hildebrandt, Friedhelm
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2013-08, Vol.123 (8), p.3243-3253
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Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III
Author / Creator:Ventzke, Ada ; Feldkötter, Markus ; Wei, Andrew ; Becker, Jutta ; Beck, Bodo B. ; Hoppe, Bernd
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2017-12, Vol.32 (12), p.2263-2271
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The retinal phenotype in primary hyperoxaluria type 2 and 3
Author / Creator:Birtel, Johannes ; Diederen, Roselie M. ; Herrmann, Philipp ; Kaspar, Sophie ; Beck, Bodo B. ; Garrelfs, Sander F. ; Hoppe, Bernd ; Charbel Issa, Peter
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2023-05, Vol.38 (5), p.1485-1490
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HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry
Author / Creator:Okorn, Christine ; Goertz, Anne ; Vester, Udo ; Beck, Bodo B. ; Bergmann, Carsten ; Habbig, Sandra ; König, Jens ; Konrad, Martin ; Müller, Dominik ; Oh, Jun ; Ortiz-Brüchle, Nadina ; Patzer, Ludwig ; Schild, Raphael ; Seeman, Tomas ; Staude, Hagen ; Thumfart, Julia ; Tönshoff, Burkhard ; Walden, Ulrike ; Weber, Lutz ; Zaniew, Marcin ; Zappel, Hildegard ; Hoyer, Peter F. ; Weber, Stefanie
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2019-06, Vol.34 (6), p.1065-1075
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Hypomagnesemia is underestimated in children with HNF1B mutations
Author / Creator:Kołbuc, Marcin ; Leßmeier, Lennart ; Salamon-Słowińska, Dorota ; Małecka, Ilona ; Pawlaczyk, Krzysztof ; Walkowiak, Jarosław ; Wysocki, Jacek ; Beck, Bodo B. ; Zaniew, Marcin
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2020-10, Vol.35 (10), p.1877-1886
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Showing 1 to 20 of 38 results

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

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

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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

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Kidney stones in primary hyperoxaluria: new lessons learnt

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Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities

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A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

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

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Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis

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

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The primary hyperoxalurias

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A new era of treatment for primary hyperoxaluria type 1

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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

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Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

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Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

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Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations

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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

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Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III

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The retinal phenotype in primary hyperoxaluria type 2 and 3

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HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

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Hypomagnesemia is underestimated in children with HNF1B mutations

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