Literature DB >> 17937426

Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology.

Heiko Reutter1, Lihong Qi, John P Gearhart, Thomas Boemers, Anne-Karoline Ebert, Wolfgang Rösch, Michael Ludwig, Simeon A Boyadjiev.   

Abstract

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Year:  2007        PMID： 17937426     DOI： 10.1002/ajmg.a.31975

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  17 in total

Review 1.  Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

Authors:  Csaba Siffel; Adolfo Correa; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Sebastiano Bianca; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Lisa K Marengo; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anna Pierini; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Richard S Olney
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

2.  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.

Authors:  Heiko Reutter; Markus Draaken; Tracie Pennimpede; Lars Wittler; Felix F Brockschmidt; Anne-Karolin Ebert; Enrika Bartels; Wolfgang Rösch; Thomas M Boemers; Karin Hirsch; Eberhard Schmiedeke; Christian Meesters; Tim Becker; Raimund Stein; Boris Utsch; Elisabeth Mangold; Agneta Nordenskjöld; Gillian Barker; Christina Clementsson Kockum; Nadine Zwink; Gundula Holmdahl; Göran Läckgren; Ekkehart Jenetzky; Wouter F J Feitz; Carlo Marcelis; Charlotte H W Wijers; Iris A L M Van Rooij; John P Gearhart; Bernhard G Herrmann; Michael Ludwig; Simeon A Boyadjiev; Markus M Nöthen; Manuel Mattheisen
Journal:  Hum Mol Genet       Date:  2014-05-22       Impact factor: 6.150

3.  Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

Authors:  Heiko Reutter; Simeon A Boyadjiev; Lisa Gambhir; Anne-Karoline Ebert; Wolfgang H Rösch; Raimund Stein; Annette Schröder; Thomas M Boemers; Enrika Bartels; Hannes Vogt; Boris Utsch; Martin Müller; Birte Detlefsen; Nadine Zwink; Sebastian Rogenhofer; Rita Gobet; Goedele M A Beckers; Arend Bökenkamp; Abdol-Mohammad Kajbafzadeh; Enrique Jaureguizar; Markus Draaken; Yegappan Lakshmanan; John P Gearhart; Michael Ludwig; Markus M Nöthen; Ekkehart Jenetzky
Journal:  J Pediatr       Date:  2011-06-16       Impact factor: 4.406

4.  Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.

Authors:  Rong Zhang; Michael Knapp; Franziska Kause; Heiko Reutter; Michael Ludwig
Journal:  J Pediatr Genet       Date:  2017-04-21

Review 5.  Genetics of human congenital urinary bladder disease.

Authors:  Adrian S Woolf; Helen M Stuart; William G Newman
Journal:  Pediatr Nephrol       Date:  2013-04-13       Impact factor: 3.714

6.  Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.

Authors:  L Gambhir; T Höller; M Müller; G Schott; H Vogt; B Detlefsen; A-K Ebert; M Fisch; S Beaudoin; R Stein; S A Boyadjiev; J P Gearhart; W Rösch; B Utsch; T M Boemers; H Reutter; M Ludwig
Journal:  J Urol       Date:  2008-03-04       Impact factor: 7.450

7.  Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca.

Authors:  Victoria Krüger; Mercedeh Khoshvaghti; Heiko Reutter; Hannes Vogt; Thomas M Boemers; Michael Ludwig
Journal:  Pediatr Surg Int       Date:  2008-06-28       Impact factor: 1.827

8.  Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Authors:  Kim M Keppler-Noreuil; Kristin M Conway; Dereck Shen; Anthony J Rhoads; John C Carey; Paul A Romitti
Journal:  Am J Med Genet A       Date:  2017-09-28       Impact factor: 2.802

Review 9.  The exstrophy-epispadias complex.

Authors:  Anne-Karoline Ebert; Heiko Reutter; Michael Ludwig; Wolfgang H Rösch
Journal:  Orphanet J Rare Dis       Date:  2009-10-30       Impact factor: 4.123

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

Authors:  Simon Wilkins; Ke Wei Zhang; Istiak Mahfuz; Renaud Quantin; Nancy D'Cruz; John Hutson; Michael Ee; Darius Bagli; Karen Aitken; Fion Nga-Yin Fong; Patrick Kwok-Shing Ng; Stephen Kwok-Wing Tsui; Wendy Yin-Wan Fung; Tahmina Banu; Atul Thakre; Kaid Johar; Enrique Jaureguizar; Long Li; Wei Cheng
Journal:  PLoS Genet       Date:  2012-12-20       Impact factor: 5.917
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