Publications by authors named "Carsten Bergmann"

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[Genetic diagnostics in nephrology: current clinical and therapeutic relevance].
Carsten Bergmann

Dtsch Med Wochenschr· November 2025

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PATJ deficiency leads to cystic kidney disease and related ciliopathies.
Daniel Epting, Daniela A Braun, Eva Decker, Elisabeth Ott, Tobias Eisenberger, Carsten Bergmann

HGG Adv· September 2025

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Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis.
Daniel Epting, John Devane, Ralf Mertes, Séverine Kayser, Martin Helmstädter, Carsten Bergmann

Sci Rep· September 2025

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BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD.
Uyen Tran, Andrew J Streets, Devon Smith, Eva Decker, Annemarie Kirschfink, Carsten Bergmann

bioRxiv· July 2025

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Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia.
Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald

J Pediatr Endocrinol Metab· April 2025

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De novo variants in cause a syndromic neurodevelopmental disorder.
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Carsten Bergmann

medRxiv· April 2025

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Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies.
Johanna Bresch, Jens König, Martin Konrad, Sabine Kollmann, Mareike Dahmer-Heath, Carsten Bergmann

Sci Rep· April 2025

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SGLT2-Inhibition in Patients With Alport Syndrome.
Jan Boeckhaus, Daniel P Gale, James Simon, Jie Ding, Yanqin Zhang, Carsten Bergmann

Kidney Int Rep· December 2024

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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Hélène Dollfus, Marc R Lilien, Pietro Maffei, Alain Verloes, Jean Muller, Carsten Bergmann

Eur J Hum Genet· November 2024

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Erratum to "Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition" [ Volume 9, Issue 4, April 2024, Pages 919-928].
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, Jan Hinrich Bräsen, Constantin von Kaisenberg, Carsten Bergmann

Kidney Int Rep· October 2024

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[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].
Metin Cetiner, Carsten Bergmann, Markus Bettendorf, Johanna Faust, Anja Gäckler

Klin Padiatr· September 2024

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Pathogenic PHIP Variants are Variably Associated With CAKUT.
Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Carsten Bergmann

Kidney Int Rep· August 2024

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Renal and Extrarenal Phenotypes in Patients With Variants and Chromosome 17q12 Microdeletions.
Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Carsten Bergmann

Kidney Int Rep· August 2024

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Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage.
Jessica K Kaufeld, Ulf Schönermarck, Lucas Kühne, Jan Hinrich Bräsen, Constantin von Kaisenberg, Carsten Bergmann

Kidney Int Rep· July 2024

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Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.
Djalila Mekahli, Roman-Ulrich Müller, Matko Marlais, Tanja Wlodkowski, Stefanie Haeberle, Carsten Bergmann

Nat Rev Nephrol· June 2024

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Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Ria Schönauer, Dana Sierks, Melissa Boerrigter, Tabinda Jawaid, Lea Caroff, Carsten Bergmann

Gastroenterology· May 2024

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Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, Julia Calzada-Wack, Yong Li, Carsten Bergmann

Kidney Int· April 2024

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Ibrutinib-associated focal segmental glomerulosclerosis and the impact of podocin mutations in chronic lymphocytic leukemia.
Jan Czogalla, Simon Schliffke, Shun Lu, Maria Schwerk, Helena Petereit, Carsten Bergmann

Kidney Int· April 2024

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Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite.
Teresa Antonia Kiener, Elena Moré, Michael Franzen, Janne Cadamuro, Christoph Schwarz, Carsten Bergmann

Kidney Blood Press Res· April 2024

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Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.
Jessica K Kaufeld, Lucas Kühne, Ulf Schönermarck, Jan Hinrich Bräsen, Constantin von Kaisenberg, Carsten Bergmann

Kidney Int Rep· April 2024

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Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic Variants.
Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Carsten Bergmann

Int J Mol Sci· January 2024

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CD55 Deficiency With Budd-Chiari Syndrome Treated by Liver Transplantation and Eculizumab.
Sinja Ohlsson, Elke Lainka, Christoph Hünseler, Carsten Bergmann, Sebahattin Cirak

Pediatrics· December 2023

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Kif21a deficiency leads to impaired glomerular filtration barrier function.
Hanna Riedmann, Séverine Kayser, Martin Helmstädter, Daniel Epting, Carsten Bergmann

Sci Rep· November 2023

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An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann

Orphanet J Rare Dis· November 2023

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PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity.
Julia Fiedler, Thomas Moennig, Johanna H Hinrichs, Annika Weber, Thomas Wagner, Carsten Bergmann

Cell Mol Life Sci· October 2023

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