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Items: 1 to 20 of 101

1.

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
2.

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
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.

Genome-wide linkage scan for bladder exstrophy-epispadias complex.

Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H.

Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):174-8. doi: 10.1002/bdra.20512.

PMID:
19086019
6.
7.

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.

8.

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
9.

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
10.

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.

11.

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
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.

[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
14.

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
15.

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.

16.

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. doi: 10.1002/bdra.23521. Epub 2016 May 25.

PMID:
27223093
17.

The exstrophy-epispadias complex in the duplicated lower urinary tract.

Perren F, Frey P.

J Urol. 1998 May;159(5):1681-3.

PMID:
9554393
18.

Long-term follow-up of male patients after reconstruction of the bladder-exstrophy-epispadias complex: psychosocial status, continence, renal and genital function.

Ebert AK, Schott G, Bals-Pratsch M, Seifert B, Rösch WH.

J Pediatr Urol. 2010 Feb;6(1):6-10. doi: 10.1016/j.jpurol.2009.06.002. Epub 2009 Jul 10.

PMID:
19596609
19.

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. doi: 10.1002/bdra.23112. Epub 2013 Jan 29.

PMID:
23359465
20.

Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion.

Ebert AK, Falkert A, Hofstädter A, Reutter H, Rösch WH.

Arch Gynecol Obstet. 2011 Oct;284(4):1043-6. doi: 10.1007/s00404-011-1945-3. Epub 2011 Jun 23.

PMID:
21698450

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