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Items: 1 to 20 of 103

1.

Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex.

Wilkins S, Zhang KW, Mahfuz I, Quantin R, D'Cruz N, Hutson J, Ee M, Bagli D, Aitken K, Fong FN, Ng PK, Tsui SK, Fung WY, Banu T, Thakre A, Johar K, Jaureguizar E, Li L, Cheng W.

PLoS Genet. 2012;8(12):e1003070. doi: 10.1371/journal.pgen.1003070. Epub 2012 Dec 20.

2.

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. doi: 10.1016/j.jpedsurg.2013.08.012.

PMID:
24314177
3.

New insights into the pathogenesis of bladder exstrophy-epispadias complex.

Mahfuz I, Darling T, Wilkins S, White S, Cheng W.

J Pediatr Urol. 2013 Dec;9(6 Pt B):996-1005. doi: 10.1016/j.jpurol.2013.05.001. Epub 2013 Jun 3. Review.

PMID:
23743131
4.

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. doi: 10.1002/bdra.23161. Epub 2013 Aug 2.

PMID:
23913486
5.

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.

PMID:
21042780
6.

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families.

Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP.

BJU Int. 2004 Dec;94(9):1337-43.

7.

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. doi: 10.1002/bdra.23249. Epub 2014 Apr 25.

PMID:
24764164
8.
9.

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. doi: 10.3892/ijmm.2011.654. Epub 2011 Mar 22.

PMID:
21431277
10.

[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. Review. German.

PMID:
15973548
11.

Bladder exstrophy-epispadias complex.

Ludwig M, Ching B, Reutter H, Boyadjiev SA.

Birth Defects Res A Clin Mol Teratol. 2009 Jun;85(6):509-22. doi: 10.1002/bdra.20557. Review.

PMID:
19161161
12.

Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature.

Reutter H, Shapiro E, Gruen JR.

Am J Med Genet A. 2003 Jul 15;120A(2):215-21. Review.

PMID:
12833402
13.

Bladder exstrophy and epispadias complex in sibling: case report and review of literature.

Kajbafzadeh AM, Tajik P, Payabvash S, Farzan S, Solhpour AR.

Pediatr Surg Int. 2006 Sep;22(9):767-70. Epub 2006 Aug 1. Review.

PMID:
16896811
14.

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.

Hum Mol Genet. 2015 Sep 15;24(18):5069-78. doi: 10.1093/hmg/ddv225. Epub 2015 Jun 23.

PMID:
26105184
15.

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. doi: 10.1002/bdra.20701.

PMID:
20672349
16.

Pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex.

Ebert AK, Falkert A, Brandl R, Hirschfelder H, Koller M, Rösch WH.

BJU Int. 2010 Jan;105(2):248-53. doi: 10.1111/j.1464-410X.2009.08736.x. Epub 2009 Jul 6.

17.

Psychosocial screening at paediatric BEEC clinics: a pilot evaluation study.

Hurrell RA, Fullwood C, Keys J, Dickson AP, Fishwick J, Whitnall B, Cervellione RM.

J Pediatr Urol. 2015 Apr;11(2):79.e1-6. doi: 10.1016/j.jpurol.2014.10.013. Epub 2015 Feb 26.

PMID:
25812470
18.

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.

19.

Sexual function in adult patients with classic bladder exstrophy: A multicenter study.

Park W, Zwink N, Rösch WH, Schmiedeke E, Stein R, Schmidt D, Noeker M, Jenetzky E, Reutter H, Ebert AK.

J Pediatr Urol. 2015 Jun;11(3):125.e1-6. doi: 10.1016/j.jpurol.2015.02.001. Epub 2015 Mar 12.

PMID:
25986209
20.

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 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22.

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