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4. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. Beaman GM; Woolf AS; Cervellione RM; Keene D; Mushtaq I; Urquhart JE; Stuart HM; Newman WG Am J Med Genet A; 2019 Mar; 179(3):404-409. PubMed ID: 30628148 [TBL] [Abstract][Full Text] [Related]
5. 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 Mol Genet Genomic Med; 2019 Jun; 7(6):e666. PubMed ID: 31044557 [TBL] [Abstract][Full Text] [Related]
6. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Draaken M; Mughal SS; Pennimpede T; Wolter S; Wittler L; Ebert AK; Rösch W; Stein R; Bartels E; Schmidt D; Boemers TM; Schmiedeke E; Hoffmann P; Moebus S; Herrmann BG; Nöthen MM; Reutter H; Ludwig M Birth Defects Res A Clin Mol Teratol; 2013 Mar; 97(3):133-9. PubMed ID: 23359465 [TBL] [Abstract][Full Text] [Related]
7. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. von Lowtzow C; Hofmann A; Zhang R; Marsch F; Ebert AK; Rösch W; Stein R; Boemers TM; Hirsch K; Marcelis C; Feitz WF; Brusco A; Migone N; Di Grazia M; Moebus S; Nöthen MM; Reutter H; Ludwig M; Draaken M BMC Med Genet; 2016 Apr; 17(1):35. PubMed ID: 27138190 [TBL] [Abstract][Full Text] [Related]
8. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Draaken M; Reutter H; Schramm C; Bartels E; Boemers TM; Ebert AK; Rösch W; Schröder A; Stein R; Moebus S; Stienen D; Hoffmann P; Nöthen MM; Ludwig M Eur J Med Genet; 2010; 53(2):55-60. PubMed ID: 20060941 [TBL] [Abstract][Full Text] [Related]
9. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Lundin J; Söderhäll C; Lundén L; Hammarsjö A; White I; Schoumans J; Läckgren G; Kockum CC; Nordenskjöld A Eur J Med Genet; 2010; 53(2):61-5. PubMed ID: 20045748 [TBL] [Abstract][Full Text] [Related]
10. PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology? Kolarova J; Bens S; Ammerpohl O; Hilger AC; Zhang R; Reutter H; Siebert R Birth Defects Res A Clin Mol Teratol; 2016 Aug; 106(8):724-8. PubMed ID: 27223093 [TBL] [Abstract][Full Text] [Related]
11. Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. Qi L; Wang M; Yagnik G; Mattheisen M; Gearhart JP; Lakshmanan Y; Ebert AK; Rösch W; Ludwig M; Draaken M; Reutter H; Boyadjiev SA Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):759-63. PubMed ID: 23913486 [TBL] [Abstract][Full Text] [Related]
12. No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. Darling T; Mahfuz I; White SJ; Cheng W J Pediatr Surg; 2013 Dec; 48(12):2393-400. PubMed ID: 24314177 [TBL] [Abstract][Full Text] [Related]
13. De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex. Jelin AC; Wohler E; Martin R; Di Carlo H; Isaacs W; Ko J; Michaud J; Blakemore K; Valle D; Sobreira N; Gearhart J Am J Med Genet A; 2024 Apr; 194(4):e63501. PubMed ID: 38082334 [TBL] [Abstract][Full Text] [Related]
14. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization. Reutter H; Hoischen A; Ludwig M; Stein R; Radlwimmer B; Engels H; Wolffenbuttel KP; Weber RG BJU Int; 2007 Sep; 100(3):646-50. PubMed ID: 17669146 [TBL] [Abstract][Full Text] [Related]
15. Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients. Reutter H; Thauvin-Robinet C; Boemers TM; Rösch WH; Ludwig M Scand J Urol Nephrol; 2006; 40(3):221-4. PubMed ID: 16809264 [TBL] [Abstract][Full Text] [Related]
17. Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association. Sharma A; Fröhlich H; Zhang R; Ebert AK; Rösch W; Reis H; Kristiansen G; Ellinger J; Reutter H Cancer Genet; 2019 Jun; 235-236():18-20. PubMed ID: 31296310 [TBL] [Abstract][Full Text] [Related]
18. 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 Hum Mol Genet; 2014 Oct; 23(20):5536-44. PubMed ID: 24852367 [TBL] [Abstract][Full Text] [Related]
19. Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. Qi L; Chen K; Hur DJ; Yagnik G; Lakshmanan Y; Kotch LE; Ashrafi GH; Martinez-Murillo F; Kowalski J; Naydenov C; Wittler L; Gearhart JP; Draaken M; Reutter H; Ludwig M; Boyadjiev SA Int J Mol Med; 2011 Jun; 27(6):755-65. PubMed ID: 21431277 [TBL] [Abstract][Full Text] [Related]
20. Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. Draaken M; Knapp M; Pennimpede T; Schmidt JM; Ebert AK; Rösch W; Stein R; Utsch B; Hirsch K; Boemers TM; Mangold E; Heilmann S; Ludwig KU; Jenetzky E; Zwink N; Moebus S; Herrmann BG; Mattheisen M; Nöthen MM; Ludwig M; Reutter H PLoS Genet; 2015 Mar; 11(3):e1005024. PubMed ID: 25763902 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]