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Page 1
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter H. Draaken M, et al. Among authors: holmdahl g. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):512-7. doi: 10.1002/bdra.23249. Epub 2014 Apr 25. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24764164
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: holmdahl g. 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
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H. Zhang R, et al. Among authors: holmdahl g. Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170. Sci Rep. 2017. PMID: 28176844 Free PMC article.
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, Hofmeister W, Cao J, Nilsson D, Holmdahl G, Barker G, Anderberg M, Vukojević V, Lindstrand A, Nordenskjöld A. Lundin J, et al. Among authors: holmdahl g. Mol Genet Genomic Med. 2019 Jun;7(6):e666. doi: 10.1002/mgg3.666. Epub 2019 May 1. Mol Genet Genomic Med. 2019. PMID: 31044557 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: holmdahl g. 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.
Genetic Counseling for Bladder Exstrophy-Epispadias Complex.
Reutter H, Holmdahl G. Reutter H, et al. Among authors: holmdahl g. Eur J Pediatr Surg. 2021 Dec;31(6):468-471. doi: 10.1055/s-0041-1740336. Epub 2021 Dec 15. Eur J Pediatr Surg. 2021. PMID: 34911128 Free article. Review.
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: holmdahl g. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Psychosocial outcome in adult men born with hypospadias.
Örtqvist L, Andersson M, Strandqvist A, Nordenström A, Frisén L, Holmdahl G, Nordenskjöld A. Örtqvist L, et al. Among authors: holmdahl g. J Pediatr Urol. 2017 Feb;13(1):79.e1-79.e7. doi: 10.1016/j.jpurol.2016.08.008. Epub 2016 Sep 9. J Pediatr Urol. 2017. PMID: 28087231
73 results