Literature DB >> 28534165

[The German research network CURE-Net : A benefit for patients with rare diseases].

A-K Ebert1.   

Abstract

With the help of the media, there is growing public awareness for the problems associated with rare diseases and their impact on the lives of those affected and their families. Bladder exstrophy-epispadias complex (BEEC) is also a part of the group of rare diseases within the urological field. The German network CURE-Net was founded in 2009 to systematically collect data regarding the epidemiological and molecular causes, and clinical and psychosocial effects of congenital urorectal malformations. With the help of self-help groups a national registry could be established for systematic data retrieval. This research can help to improve existing medical care and follow-up for affected individuals with BEEC.

Entities:  

Keywords:  Anorectal malformation; Bladder exstrophy-epsipadias complex; Malformations, urorectal; Network/CURE-net

Mesh:

Year:  2017        PMID: 28534165     DOI: 10.1007/s00120-017-0403-7

Source DB:  PubMed          Journal:  Urologe A        ISSN: 0340-2592            Impact factor:   0.639


  7 in total

1.  Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe.

Authors:  Raimondo M Cervellione; Alberto Mantovani; John Gearhart; Guy Bogaert; Rita Gobet; Paolo Caione; Alan P Dickson
Journal:  J Pediatr Urol       Date:  2015-07-17       Impact factor: 1.830

2.  Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net.

Authors:  Anne-Karoline Ebert; Theresa Lange; Heiko Reutter; Ekkehart Jenetzky; Raimund Stein; Thomas M Boemers; Karin Hirsch; Wolfgang H Rösch; Nadine Zwink
Journal:  J Pediatr Urol       Date:  2016-07-13       Impact factor: 1.830

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

Authors:  Weon Park; Nadine Zwink; Wolfgang H Rösch; Eberhard Schmiedeke; Raimund Stein; Dominik Schmidt; Meinolf Noeker; Ekkehart Jenetzky; Heiko Reutter; Anne-Karoline Ebert
Journal:  J Pediatr Urol       Date:  2015-03-12       Impact factor: 1.830

4.  Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study.

Authors:  Nadine Zwink; Ekkehart Jenetzky; Karin Hirsch; Peter Reifferscheid; Eberhard Schmiedeke; Dominik Schmidt; Sabrina Reckin; Florian Obermayr; Thomas M Boemers; Raimund Stein; Heiko Reutter; Wolfgang H Rösch; Hermann Brenner; Anne-Karoline Ebert
Journal:  J Urol       Date:  2012-11-27       Impact factor: 7.450

5.  The involvement of patient organisations in rare disease research: a mixed methods study in Australia.

Authors:  Deirdre Pinto; Dominique Martin; Richard Chenhall
Journal:  Orphanet J Rare Dis       Date:  2016-01-12       Impact factor: 4.123

6.  ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Authors:  Rong Zhang; Michael Knapp; Kentaro Suzuki; Daiki Kajioka; Johanna M Schmidt; Jonas Winkler; Öznur Yilmaz; Michael Pleschka; Jia Cao; Christina Clementson Kockum; Gillian Barker; Gundela Holmdahl; Glenda Beaman; David Keene; Adrian S Woolf; Raimondo M Cervellione; Wei Cheng; Simon Wilkins; John P Gearhart; Fabio Sirchia; Massimo Di Grazia; Anne-Karolin Ebert; Wolfgang Rösch; Jörg Ellinger; Ekkehart Jenetzky; Nadine Zwink; Wout F Feitz; Carlo Marcelis; Johannes Schumacher; Federico Martinón-Torres; Martin Lloyd Hibberd; Chiea Chuen Khor; Stefanie Heilmann-Heimbach; Sandra Barth; Simeon A Boyadjiev; Alfredo Brusco; Michael Ludwig; William Newman; Agneta Nordenskjöld; Gen Yamada; Benjamin Odermatt; Heiko Reutter
Journal:  Sci Rep       Date:  2017-02-08       Impact factor: 4.379

7.  Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Authors:  Markus Draaken; Michael Knapp; Tracie Pennimpede; Johanna M Schmidt; Anne-Karolin Ebert; Wolfgang Rösch; Raimund Stein; Boris Utsch; Karin Hirsch; Thomas M Boemers; Elisabeth Mangold; Stefanie Heilmann; Kerstin U Ludwig; Ekkehart Jenetzky; Nadine Zwink; Susanne Moebus; Bernhard G Herrmann; Manuel Mattheisen; Markus M Nöthen; Michael Ludwig; Heiko Reutter
Journal:  PLoS Genet       Date:  2015-03-12       Impact factor: 5.917

  7 in total

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