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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: nordenskjold a. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
Nordenström A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Nordenskjöld A. Nordenström A, et al. Among authors: nordenskjold a. J Clin Endocrinol Metab. 2010 Aug;95(8):3633-40. doi: 10.1210/jc.2009-2639. Epub 2010 May 13. J Clin Endocrinol Metab. 2010. PMID: 20466782
Common variants in DGKK are strongly associated with risk of hypospadias.
van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X, Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV. van der Zanden LF, et al. Among authors: nordenskjold a. Nat Genet. 2011 Jan;43(1):48-50. doi: 10.1038/ng.721. Epub 2010 Nov 28. Nat Genet. 2011. PMID: 21113153
A case with bladder exstrophy and unbalanced X chromosome rearrangement.
Soderhall C, Lundin J, Lagerstedt-Robinson K, Grigelioniene G, Lackgren G, Kockum CC, Nordenskjold A. Soderhall C, et al. Among authors: nordenskjold a. Eur J Pediatr Surg. 2014 Aug;24(4):353-9. doi: 10.1055/s-0033-1349056. Epub 2013 Jun 25. Eur J Pediatr Surg. 2014. PMID: 23801353
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M. Reutter H, et al. Among authors: nordenskjold a. Hum Mol Genet. 2014 Oct 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852367 Free PMC article.
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
Söderhäll C, Körberg IB, Thai HT, Cao J, Chen Y, Zhang X, Shulu Z, van der Zanden LF, van Rooij IA, Frisén L, Roeleveld N, Markljung E, Kockum I, Nordenskjöld A. Söderhäll C, et al. Among authors: nordenskjold a. Eur J Hum Genet. 2015 Apr;23(4):516-22. doi: 10.1038/ejhg.2014.129. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986825 Free PMC article.
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Körberg IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, Baskin LS, Nordenskjöld A, van der Zanden LF, Melbye M. Geller F, et al. Among authors: nordenskjold a. Nat Genet. 2014 Sep;46(9):957-63. doi: 10.1038/ng.3063. Epub 2014 Aug 10. Nat Genet. 2014. PMID: 25108383
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojević V, Clementson Kockum C, Lundin J, Lindstrand A, Nordenskjöld A. Baranowska Körberg I, et al. Among authors: nordenskjold a. Hum Mol Genet. 2015 Sep 15;24(18):5069-78. doi: 10.1093/hmg/ddv225. Epub 2015 Jun 23. Hum Mol Genet. 2015. PMID: 26105184
300 results