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2. 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 Birth Defects Res A Clin Mol Teratol; 2014 Jun; 100(6):512-7. PubMed ID: 24764164 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]. Ludwig M; Utsch B; Reutter H Urologe A; 2005 Sep; 44(9):1037-8, 1040-4. PubMed ID: 15973548 [TBL] [Abstract][Full Text] [Related]
15. 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]
17. 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]
18. Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. Reutter H; Rüschendorf F; Mattheisen M; Draaken M; Bartels E; Hübner N; Hoffmann P; Payabvash S; Saar K; Nöthen MM; Kajbafzadeh AM; Ludwig M Birth Defects Res A Clin Mol Teratol; 2010 Sep; 88(9):757-61. PubMed ID: 20672349 [TBL] [Abstract][Full Text] [Related]
19. p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue. Ching BJ; Wittler L; Proske J; Yagnik G; Qi L; Draaken M; Reutter H; Gearhart JP; Ludwig M; Boyadjiev SA Int J Mol Med; 2010 Dec; 26(6):861-7. PubMed ID: 21042780 [TBL] [Abstract][Full Text] [Related]
20. Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. Cervellione RM; Mantovani A; Gearhart J; Bogaert G; Gobet R; Caione P; Dickson AP J Pediatr Urol; 2015 Dec; 11(6):337.e1-6. PubMed ID: 26257027 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]