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Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: reutter h. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.
Gambhir L, Höller T, Müller M, Schott G, Vogt H, Detlefsen B, Ebert AK, Fisch M, Beaudoin S, Stein R, Boyadjiev SA, Gearhart JP, Rösch W, Utsch B, Boemers TM, Reutter H, Ludwig M. Gambhir L, et al. Among authors: reutter h. J Urol. 2008 Apr;179(4):1539-43. doi: 10.1016/j.juro.2007.11.092. Epub 2008 Mar 4. J Urol. 2008. PMID: 18295266 Free PMC article.
The exstrophy-epispadias complex.
Ebert AK, Reutter H, Ludwig M, Rösch WH. Ebert AK, et al. Among authors: reutter h. Orphanet J Rare Dis. 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. Orphanet J Rare Dis. 2009. PMID: 19878548 Free PMC article. Review.
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. Draaken M, et al. Among authors: reutter h. Eur J Med Genet. 2010 Mar-Apr;53(2):55-60. doi: 10.1016/j.ejmg.2009.12.005. Epub 2010 Jan 10. Eur J Med Genet. 2010. PMID: 20060941
244 results