Educational paper: Ciliopathies

Por Bergmann, Carsten
Publicado em 2011

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Por Bergmann, Carsten
Publicado no Pediatr Nephrol (2014)

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Por Bergmann, Carsten
Publicado no Front Pediatr (2018)

Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease

Por Frank, Valeska, Zerres, Klaus, Bergmann, Carsten
Publicado em 2014

Clinical utility gene card for: Meckel syndrome – update 2016

Por Bergmann, Carsten, Frank, Valeska, Salonen, Riitta
Publicado no Eur J Hum Genet (2016)

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

Por Petzold, Friederike, Bachmann, Anette, Bergmann, Carsten, Helmchen, Udo, Halbritter, Jan
Publicado no BMC Nephrol (2019)

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

Por Münch, Johannes, Grohmann, Maik, Lindner, Tom H., Bergmann, Carsten, Halbritter, Jan
Publicado no BMC Med Genet (2016)

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

Por Al-Hujaili, Haneen, Taskintuna, Ibrahim, Neuhaus, Christine, Bergmann, Carsten, Schatz, Patrik
Publicado no Mol Vis (2019)

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

Por Schönauer, Ria, Seidel, Anna, Grohmann, Maik, Lindner, Tom H., Bergmann, Carsten, Halbritter, Jan
Publicado no Front Genet (2019)

Tectonic gene mutations in patients with Joubert syndrome

Por Huppke, Peter, Wegener, Eike, Böhrer-Rabel, Helena, Bolz, Hanno J, Zoll, Barbara, Gärtner, Jutta, Bergmann, Carsten
Publicado no Eur J Hum Genet (2015)

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

Por Münch, Johannes, Bachmann, Anette, Grohmann, Maik, Mayer, Christof, Kirschfink, Michael, Lindner, Tom H, Bergmann, Carsten, Halbritter, Jan
Publicado no Clin Kidney J (2017)

Treating C3 glomerulopathy with eculizumab

Por Welte, Thomas, Arnold, Frederic, Kappes, Julia, Seidl, Maximilian, Häffner, Karsten, Bergmann, Carsten, Walz, Gerd, Neumann-Haefelin, Elke
Publicado no BMC Nephrol (2018)

Polycystic kidney disease

Por Bergmann, Carsten, Guay-Woodford, Lisa M., Harris, Peter C., Horie, Shigeo, Peters, Dorien J. M., Torres, Vicente E.
Publicado no Nat Rev Dis Primers (2018)

Eculizumab in chemotherapy-induced thrombotic microangiopathy

Por Schulte-Kemna, Lena, Reister, Barbara, Bettac, Lucas, Ludwig, Ulla, Fürst, Daniel, Mytilineos, Joannis, Bergmann, Carsten, van Erp, Rene, Schröppel, Bernd
Publicado no Clin Nephrol Case Stud (2020)

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

Por Chaki, Moumita, Hoefele, Julia, Allen, Susan J., Ramaswami, Gokul, Janssen, Sabine, Bergmann, Carsten, Heckenlively, John R., Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2011

Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series

Por Spartà, Giuseppina, Gaspert, Ariana, Neuhaus, Thomas J, Weitz, Marcus, Mohebbi, Nilufar, Odermatt, Urs, Zipfel, Peter F, Bergmann, Carsten, Laube, Guido F
Publicado no Clin Kidney J (2018)

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

Por Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan
Publicado no Urolithiasis (2019)

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Por Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
Publicado em 2012

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

Por Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan
Publicado no Genet Med (2020)

A complex microdeletion 17q12 phenotype in a patient with recurrent <it>de novo</it> membranous nephropathy

Por Hinkes Bernward, Hilgers Karl F, Bolz Hanno J, Goppelt-Struebe Margarete, Amann Kerstin, Nagl Sandra, Bergmann Carsten, Rascher Wolfgang, Eckardt Kai-Uwe, Jacobi Johannes
Publicado em 2012-05-01