Schönauer R - Search Results

1

Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.

Scherer L, Schönauer R, Nemitz-Kliemchen M, Hagemann T, Hantmann E, de Fallois J, Petzold F, Blüher M, Halbritter J. Scherer L, et al. Among authors: schonauer r. Sci Rep. 2023 Jun 3;13(1):9029. doi: 10.1038/s41598-023-35941-8. Sci Rep. 2023. PMID: 37270618 Free PMC article.

2

Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.

Halbritter J, Seidel A, Müller L, Schönauer R, Hoppe B. Halbritter J, et al. Among authors: schonauer r. Front Pediatr. 2018 Mar 7;6:47. doi: 10.3389/fped.2018.00047. eCollection 2018. Front Pediatr. 2018. PMID: 29564324 Free PMC article.

3

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. 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.

4

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: schonauer r. 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.

5

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. Front Genet. 2019 May 15;10:465. doi: 10.3389/fgene.2019.00465. eCollection 2019. Front Genet. 2019. PMID: 31156713 Free PMC article.

6

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1.

Münch J, Kirschner KM, Schlee H, Kraus C, Schönauer R, Jin W, Le Duc D, Scholz H, Halbritter J. Münch J, et al. Among authors: schonauer r. J Med Genet. 2020 May 7:jmedgenet-2019-106633. doi: 10.1136/jmedgenet-2019-106633. Online ahead of print. J Med Genet. 2020. PMID: 32381729

7

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

Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J. Schönauer R, et al. Genet Med. 2020 Aug;22(8):1374-1383. doi: 10.1038/s41436-020-0816-3. Epub 2020 May 13. Genet Med. 2020. PMID: 32398770 Free PMC article.

8

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.

Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J. Schönauer R, et al. Kidney Int. 2020 Oct;98(4):958-969. doi: 10.1016/j.kint.2020.05.027. Epub 2020 Jun 4. Kidney Int. 2020. PMID: 32505465 Free PMC article.

9

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.

de Fallois J, Schönauer R, Münch J, Nagel M, Popp B, Halbritter J. de Fallois J, et al. Among authors: schonauer r. Front Genet. 2021 Jun 25;12:682565. doi: 10.3389/fgene.2021.682565. eCollection 2021. Front Genet. 2021. PMID: 34249099 Free PMC article.

10

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Among authors: schonauer r. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.

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