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Items: 1 to 20 of 229

1.

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
2.

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
3.

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
4.

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
5.
6.

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.

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.

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
9.

The inheritance of the exstrophy-epispadias complex.

Shapiro E, Lepor H, Jeffs RD.

J Urol. 1984 Aug;132(2):308-10.

PMID:
6737583
10.

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

Perren F, Frey P.

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

PMID:
9554393
11.

A genome-wide linkage search for bipolar disorder susceptibility loci in a large and complex pedigree from the eastern part of Cuba.

Marcheco-Teruel B, Flint TJ, Wikman FP, Torralbas M, González L, Blanco L, Tan Q, Ewald H, Orntoft T, Kruse TA, Børglum AD, Mors O.

Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):833-43.

PMID:
16917938
12.

Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex.

Reutter H, Becker T, Ludwig M, Schäfer N, Detlefsen B, Beaudoin S, Fisch M, Ebert AK, Rösch W, Nöthen MM, Boemers TM, Betz RC.

Am J Med Genet A. 2006 Nov 15;140(22):2506-9. No abstract available.

PMID:
17041930
13.

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
14.

Urolithiasis in the exstrophy-epispadias complex.

Silver RI, Gros DA, Jeffs RD, Gearhart JP.

J Urol. 1997 Sep;158(3 Pt 2):1322-6. Review.

PMID:
9258206
15.

Genome-wide linkage scan, fine mapping, and haplotype analysis in a large, inbred, Arab Israeli pedigree suggest a schizophrenia susceptibility locus on chromosome 20p13.

Teltsh O, Kanyas K, Karni O, Levi A, Korner M, Ben-Asher E, Lancet D, Hamdan A, Lerer B, Kohn Y.

Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5;147B(2):209-15.

PMID:
17823922
16.

Genome-wide linkage analysis of ADHD using high-density SNP arrays: novel loci at 5q13.1 and 14q12.

Romanos M, Freitag C, Jacob C, Craig DW, Dempfle A, Nguyen TT, Halperin R, Walitza S, Renner TJ, Seitz C, Romanos J, Palmason H, Reif A, Heine M, Windemuth-Kieselbach C, Vogler C, Sigmund J, Warnke A, Schäfer H, Meyer J, Stephan DA, Lesch KP.

Mol Psychiatry. 2008 May;13(5):522-30. doi: 10.1038/mp.2008.12. Epub 2008 Feb 26.

PMID:
18301393
17.

Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.

Gao X, Martin ER, Liu Y, Mayhew G, Vance JM, Scott WK.

Am J Hum Genet. 2009 Apr;84(4):499-504. doi: 10.1016/j.ajhg.2009.03.005. Epub 2009 Mar 26.

18.

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
19.

Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.

Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1081-6. doi: 10.1167/iovs.08-2382. Epub 2008 Oct 31.

PMID:
18978346
20.

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 Mar-Apr;53(2):55-60. doi: 10.1016/j.ejmg.2009.12.005. Epub 2010 Jan 10.

PMID:
20060941

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