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Page 1
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. Mingardo E, et al. Among authors: schafer fm. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net.
Ebert AK, Zwink N, Reutter HM, Jenetzky E, Stein R, Hölscher AC, Lacher M, Fortmann C, Obermayr F, Fisch M, Mortazawi K, Schmiedeke E, Promm M, Hirsch K, Schäfer FM, Rösch WH. Ebert AK, et al. Among authors: schafer fm. Front Pediatr. 2020 May 19;8:174. doi: 10.3389/fped.2020.00174. eCollection 2020. Front Pediatr. 2020. PMID: 32509709 Free PMC article.
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. Rieke JM, et al. Among authors: schafer fm. Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850778 Free PMC article.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, Buness A, Schwarzer N, Boemers TM, Schmiedeke E, Neser J, Leonhardt J, Kosch F, Weih S, Gielen HM, Hosie S, Kabs C, Palta M, Märzheuser S, Bode LM, Lacher M, Schäfer FM, Stehr M, Knorr C, Ure B, Kleine K, Rolle U, Zaniew M, Phillip G, Zwink N, Jenetzky E, Reutter H, Hilger AC. Fabian J, et al. Among authors: schafer fm. Eur J Hum Genet. 2023 Jan;31(1):105-111. doi: 10.1038/s41431-022-01216-5. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36319675 Free PMC article.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H. Thiem CE, et al. Among authors: schafer fm. Birth Defects Res. 2022 Jun;114(10):478-486. doi: 10.1002/bdr2.2008. Epub 2022 Mar 31. Birth Defects Res. 2022. PMID: 35362267
Acute urinary retention in children.
Schmidt AM, Hirsch K, Schroth M, Stehr M, Schäfer FM. Schmidt AM, et al. Among authors: schafer fm. J Pediatr Urol. 2020 Dec;16(6):842.e1-842.e6. doi: 10.1016/j.jpurol.2020.08.014. Epub 2020 Aug 25. J Pediatr Urol. 2020. PMID: 32900634
Congenital Y-urethra - A diagnostic and therapeutic challenge.
Lorenz C, Zahn K, Schäfer FM, Möller K, Stehr M, Stein R. Lorenz C, et al. Among authors: schafer fm. J Pediatr Urol. 2021 Feb;17(1):30-38. doi: 10.1016/j.jpurol.2020.11.032. Epub 2020 Nov 28. J Pediatr Urol. 2021. PMID: 33317944 Review.
Sudden Blindness after Enterocystoplasty – A Case Report.
Michel-Einsiedler N, Rompel O, Neustädter I, Galler A, Stehr M, Schäfer FM. Michel-Einsiedler N, et al. Among authors: schafer fm. Klin Padiatr. 2021 Mar;233(2):88-90. doi: 10.1055/a-1301-1906. Epub 2021 Jan 4. Klin Padiatr. 2021. PMID: 33395728 English, German. No abstract available.
20 results