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Page 1
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Weber S, et al. Among authors: beetz r. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. Am J Hum Genet. 2011. PMID: 22077972 Free PMC article.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Among authors: beetz r. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.
Twelve-month outcome in juvenile proliferative lupus nephritis: results of the German registry study.
Suhlrie A, Hennies I, Gellermann J, Büscher A, Hoyer P, Waldegger S, Wygoda S, Beetz R, Lange-Sperandio B, Klaus G, Konrad M, Holder M, Staude H, Rascher W, Oh J, Pape L, Tönshoff B, Haffner D; German Society of Paediatric Nephrology. Suhlrie A, et al. Among authors: beetz r. Pediatr Nephrol. 2020 Jul;35(7):1235-1246. doi: 10.1007/s00467-020-04501-x. Epub 2020 Mar 19. Pediatr Nephrol. 2020. PMID: 32193650
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. Among authors: beetz r. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing.
Hennies I, Gimpel C, Gellermann J, Möller K, Mayer B, Dittrich K, Büscher AK, Hansen M, Aulbert W, Wühl E, Nissel R, Schalk G, Weber LT, Pohl M, Wygoda S, Beetz R, Klaus G, Fehrenbach H, König S, Staude H, Beringer O, Bald M, Walden U, von Schnakenburg C, Bertram G, Wallot M, Häffner K, Wiech T, Hoyer PF, Pohl M; German Society of Pediatric Nephrology. Hennies I, et al. Among authors: beetz r. Pediatr Nephrol. 2018 Feb;33(2):277-286. doi: 10.1007/s00467-017-3794-1. Epub 2017 Oct 5. Pediatr Nephrol. 2018. PMID: 28983704
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9. J Pediatr. 2018. PMID: 29753540
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W; Arbeitsgemeinschaft für Pädiatrische Nephrologie. Plank C, et al. Pediatr Nephrol. 2008 Sep;23(9):1483-93. doi: 10.1007/s00467-008-0794-1. Epub 2008 May 15. Pediatr Nephrol. 2008. PMID: 18481113 Free PMC article. Clinical Trial.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.
Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Živičnjak M, et al. Among authors: beetz r. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105. doi: 10.1210/jc.2011-0399. Epub 2011 Oct 12. J Clin Endocrinol Metab. 2011. PMID: 21994957 Clinical Trial.
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