Bergmann C - Search Results

1

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

Schönauer R, Seidel A, Grohmann M, Lindner TH, Bergmann C, Halbritter J. Schönauer R, et al. Among authors: bergmann c. Front Genet. 2019 May 15;10:465. doi: 10.3389/fgene.2019.00465. eCollection 2019. Front Genet. 2019. PMID: 31156713 Free PMC article.

2

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: bergmann c. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.

3

[Hemolytic kidney failure and transient ischemic attack in a 32-year-old female].

Anders R, Grohmann M, Lindner TH, Bergmann C, Halbritter J. Anders R, et al. Among authors: bergmann c. Internist (Berl). 2016 Oct;57(10):1022-1028. doi: 10.1007/s00108-016-0092-0. Internist (Berl). 2016. PMID: 27357251 German.

4

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

Münch J, Grohmann M, Lindner TH, Bergmann C, Halbritter J. Münch J, et al. Among authors: bergmann c. BMC Med Genet. 2016 Oct 12;17(1):73. doi: 10.1186/s12881-016-0336-9. BMC Med Genet. 2016. PMID: 27733133 Free PMC article.

5

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.

Münch J, Bachmann A, Grohmann M, Mayer C, Kirschfink M, Lindner TH, Bergmann C, Halbritter J. Münch J, et al. Among authors: bergmann c. Clin Kidney J. 2017 Dec;10(6):742-746. doi: 10.1093/ckj/sfx053. Epub 2017 Jul 10. Clin Kidney J. 2017. PMID: 29225802 Free PMC article.

6

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.

Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS. Hoff S, et al. Among authors: bergmann c. J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847. Epub 2018 Aug 15. J Biol Chem. 2018. PMID: 30111592 Free PMC article.

7

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K. Pauli S, et al. Among authors: bergmann c. J Med Genet. 2019 Apr;56(4):261-264. doi: 10.1136/jmedgenet-2018-105470. Epub 2018 Aug 17. J Med Genet. 2019. PMID: 30120217

8

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

Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J. Schönauer R, et al. Among authors: bergmann c. Urolithiasis. 2019 Dec;47(6):511-519. doi: 10.1007/s00240-019-01116-2. Epub 2019 Feb 23. Urolithiasis. 2019. PMID: 30798342 Free PMC article.

9

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.

Ottlewski I, Münch J, Wagner T, Schönauer R, Bachmann A, Weimann A, Hentschel J, Lindner TH, Seehofer D, Bergmann C, Jamra RA, Halbritter J. Ottlewski I, et al. Among authors: bergmann c. Kidney Int. 2019 Jul;96(1):222-230. doi: 10.1016/j.kint.2019.01.038. Epub 2019 Mar 15. Kidney Int. 2019. PMID: 31027891 Free article.

10

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

Petzold F, Bachmann A, Bergmann C, Helmchen U, Halbritter J. Petzold F, et al. Among authors: bergmann c. BMC Nephrol. 2019 Sep 2;20(1):340. doi: 10.1186/s12882-019-1523-7. BMC Nephrol. 2019. PMID: 31477057 Free PMC article.

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