Publications
PublicationsScientific papers2011Grasshoff-Derr S, Backhaus K, Hubert D, Meyer T. A successful treatment strategy in infants and adolescents with anorectal malformation and incontinence with combined hydrocolonic ultrasound and bowel management. Pediatr Surg Int. 2011; Epub Noeker M, Schmitz M, Schmiedeke E, Zwink N, Reutter H, Schmidt D, Jenetzky E. Medical predictors of psychological anxieties in VATER patients. Pediatr Surg Int. 2011; Epub Maerzheuser S, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Schmiedeke E, Schwarzer N, Spychalski N, Goetz G, Schmidt D. German Network for Congenital Uro-REctal Malformations: first evaluation and interpretation of postoperative urological complications in anorectal malformations. Pediatr Surg Int. 2011; Epub Jenetzky E, Wijers CHW, Marcelis CM, Zwink N, Reutter H, van Rooij IALM. Bias in patient series with VACTERL association. Am J Med Genet A. Am J Med Genet A. 2011;155(8): 2039-41. Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E. Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe. J Pediatr.· 2011; Epub Ebert AK, Falkert A, Hofstädter A, Reutter H, Rösch WH. Pregnancy management in women within the bladder-exstrophy-epispadias complex (BEEC) after continent urinary diversion. Arch Gynecol Obstet. 2011; Epub Bartels E, Draaken M, Kazmierczak B, Spranger S, Schramm C, Baudisch F, Nöthen MM, Schmiedeke E, Ludwig M, Reutter H. De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation. Cytogenet Genome Res. 2011;134(3):243-8. Zwink N, Jenetzky E, Brenner H. Parental risk factors and anorectal malformations: systematic review and meta-analysis. Orphanet Journal of Rare Diseases 2011, 6:25· Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways. Cell. 2011 May 13;145(4):513-28. 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. Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex. Int J Mol Med. 2011 Jun;27(6):755-65. Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E,Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A. 2011;155(2): 445-9
2010Schramm C, Draaken M, Tewes G, Bartels E, Schmiedeke E, Märzheuser S, Grasshoff-Derr S, Hosie S, Holland-Cunz S, Priebe L, Kreiß-Nachtsheim M, Hoffmann P, Aretz S, Nöthen MM, Reutter H, Ludwig M. Autosomal-dominant non-syndromic anal atresia: Sequencing of candidate genes, array- based molecular karyotyping and review of the literature. European Journal of Pediatrics (2010) In press Zwink N, Jenetzky E, Schwarzer N, Reutter H. Congenitale urorektale Fehlbildungen - BMBF richtet deutschlandweites Netwerk ein. Deutsche Zeitschrift für Klinische Forschung. 11/12 2010: 36-38. Märzheuser S, Schmidt D, David S, Rothe K. Hydrocolonic sonography: a helpful diagnostic tool to implement effective bowel management. Pediatr Surg Int. 2010, 26 (11): 1121-4. Ching BJ, Wittler L, Proske J, Yagnik G, Qi L, Draaken M, Reutter H, Gearhart JP, Ludwig M, Boyadjiev SA. p63 (TP73L) a key player in embryonic urogential development with significant dysregulation in human bladder exstrophy tissue. International Journal of Molecular Medicine 2010 26:861-867 Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H. De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet. 2010 Sep 14. [Epub ahead of print] Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int. 2010 Aug 21. PMID: 20730541 Vdigal JA, Morkel M, Wittler L, Brouwer-Lehmitz A, Grote P, Macura K, Herrmann BG. An inducible RNA interference system for the functional dissection of mouse embryogenesis. Reutter H, Rüschendorf F, Mattheisen M, Draaken M, Bartels E, Hübner N, Hoffmann P, Payabvash S, Saar K, Nöthen MM, Kajbafzadeh A-M, Ludwig M. Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. Birth Defects Research Part A: Clinical and Molecular Teratology (2010) in Press Draaken M, Proske J, Schramm C, Wittler L, Bartels E, Nöthen MM, Reutter H, Ludwig M. Embryonic expression of the cysteine rich protein 61 (CYR61) gene, a candidate for the development of human epispadias. Birth Defects Research Part A: Clinical and Molecular Teratology (2010): 546-50. Draaken M+, Reutter H+, Schramm C, Bartels E, Boemers TM, Ebert A-K, Rösch W, Schröder A, Stein R, Stienen D, Hoffmann P, Nöthen MM, Ludwig M. Microduplications at 22q11.21 are associated with classic bladder exstrophy. European Journal of Medical Genetics (2010) 53:55-60 (+authors contributed equally to the mansucript) Bağci S, Müller A, Franz A, Heydweiller A, Berg C, Nöthen MM, Bartmann P, Reutter H. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: expansion of the phenotypic spectrum and a review of the literature. Fetal Diagnosis and Therapy (2010) 27:113-117 Ebert AK, Schott G, Bals-Pratsch M, Seifert B, Rösch WH. Long-term follow-up of male patients after reconstruction of the bladder-exstrophy-epispadias complex: psychosocial status, continence, renal and genital function. J Pediatr Urol. 2010 6:6-10. Ebert AK, Falkert A, Brandl R, Hirschfelder H, Koller M, Rösch WH. Pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex. BJU Int. 2010 105:248-253. Noeker M. Adaptation und Lebensqualität bei anorektaler Malformation: Empirische Befunde, theoretisches Modell, psychodiagnostische Erfassung und verhaltensmedizinische Intervention. Praxis der Kinderpsychologie und Kinderpsychiatrie, 2010, 59: 53-71. Schmidt D, Märzheuser S, Jenetzky, E, Lenz, K, Lehmkuhl U, Mau H, Winter S. Psychiatrische Komorbidität und psychosozialer Betreuungsbedarf bei Kindern und Jugendlichen mit anorektalen Malformationen. Praxis der Kinderpsychologie und Kinderpsychiatrie, 2010, 59: 39-52. Schwarzer N. Wie kann Selbsthilfe Patienten mit anorektalen Fehlbildungen und ihre Familien unterstützen? Psychosoziale Hilfsangebote von SoMA e.V. Praxis der Kinderpsychologie und Kinderpsychiatrie, 2010, 59: 5-22.
2009Ebert AK, Falkert A, Germer U, Rösch WH. Biometry of the pubovisceral muscle and levator hiatus assessed by three-dimensional ultrasound in females with bladder exstrophy-epispadias complex after functional reconstruction. Ultrasound Obstet Gynecol. 2009 34:98-103. Reutter H, Bökenkamp A, Ebert A-K, Rösch W, Boemers TM, Nöthen MN, Ludwig M. Possible association of Down syndrome and Exstrophy-Epispadias-Complex: report of two new cases and review of the literature. European Journal of Pediatrics (2009) 168:881-883. Ludwig M, Rüschendorf F, Saar K, Hübner N, Siekmann L, Boyadjiev SA, Reutter H. Genome-wide linkage scan for bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol Teratol. 2009, 85:174-178. Maerzheuser S, Schmidt D, Mau H, Winter S. Prospective evaluation of comorbidity and psychosocial need in children and adolescents with anorectal malformation. Part one: paediatric surgical evaluation and treatment of defecating disorder. Pediatr Surg Int. (2009) 25:889-93. Winter S, Schmidt D, Lenz K, Lehmkuhl U, Jenetzky E, Mau H, Märzheuser S. Prospective evaluation of comorbidity and psychosocial need in children and adolescents with anorectal malformations. Part 2: evaluation of psychosocial need. Pediatr Surg Int. (2009) 25:895-900.
Review Articles / Book Reviews2010Schmiedeke E in Bachmann H, Claßen M (Editors) "Urine- and stool continence in children and adolescents", UNI-MED-Publisher Bremen/London/Boston. ISBN 978-3-8374-1204-8 Jenetzky E, Lehmkuhl U (Editors.) Psychological aspects of anorectal abnormalities. Editorial for special topic "Anorectal Malformation" 1/2010 of Praxis der Kinderpsychologie und Kinderpsychiatrie, 2010, 59: 1-4.
2009Ebert AK, Reutter H, Ludwig M, Rösch WH. The exstrophy-epispadias complex. Orphanet J Rare Dis. 2009, 4:23. Ludwig M, Ching B, Reutter H, Boyadjiev SA. Bladder exstrophy-epispadias complex. Birth Defects Res A Clin Mol
Congress Papers2011Schmidt D „Results of own investigations: Adults with ARM – How do they manage?“. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Noeker M „Stress, ressources and psychological adaptation in ARM: The example of VATER (CURE-Net – First results)“. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Märzheuser S Sense and nonsense of continence surgery. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Grasshoff-Derr S Bowel Management and hydrosonography. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Ebert AK EEC-Longterm-Follow-up: (CURE-Net – First results). Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Schmiedeke E „Putting things on the right track: Postoperative care in ARM (CURE-Net – First results)“. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Stein R Bladder Innervation – Neurological EEC. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Märzheuser S Change in definition, diagnosis and treatment of ARM. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Schmiedeke E „The VATER-association: Which ARM-Patient is really affected and what does it mean for her/him? (CURE-Net – First results)“. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Ebert AK EEC at Newborns (CURE-Net – First results). Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Reutter H „The genetic causes of uro-rectal malformations (CURE-Net – First results)“. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Jenetzky E Prevalance – Experiences and importance of a register. Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Zwink N "Existence of risk factors for uro-rectal malformations (CURE-Net – First results)". Presentation at the 1st International CURE-Net Conference from 21.-22. October 2011 in Heidelberg, Germany. Jenetzky E, Reutter H, Zwink N, Reifferscheid P, Rißmann A Nehmen die Anorektalen Fehlbildungen zu?. Presentation at the 49th annual meeting of the German Society for Pediatric Surgery from 22.-25. September 2011 in Bielefeld, Germany. Grasshoff-Derr S, Jenetzky E, Zwink N, Reutter H, Bartels E, Schmidt D, Holland-Cunz S, Märzheuser S, Schwarzer N, Hosie S, Schmiedeke E Die Bedeutung des Tethered cord als Begleitfehlbildung bei Patienten mit anorektaler Malformation an Hand der deutschen CURE-Net Daten. Presentation at the 49th annual meeting of the German Society for Pediatric Surgery from 22.-25. September 2011 in Bielefeld, Germany. Schmiedeke E, Bartels E, Schmidt D, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Spychalski N, Weih S, Schmitz M, Nöker M, Zwink N Anorektale Fehlbildungen und VATER-Assoziation: ein Beitrag zur Klassifikation einer Kombination von Fehlbildungen vom interdisziplinären Netzwerk CURE-Net. Presentation at the 49th annual meeting of the German Society for Pediatric Surgery from 22.-25. September 2011 in Bielefeld, Germany. Schmiedeke E, Jenetzky E, Bartels E, Schmidt D, Holland-Cunz S, Hosie S, Märzheuser S, Grasshoff S, Nöker M, Schmitz M, Spychalski N, Zwink N Anorektale Malformationen als Teil der VATER-Assoziation: Kontinenzprognose und Nachsorgebedarf. Presentation at the 49th annual meeting of the German Society for Pediatric Surgery from 22.-25. September 2011 in Bielefeld, Germany. Schmidt D, Holland-Cunz S, Jenetzky E, Zwink N, Reutter H, Bartels E, Schmiedeke E, Hosie S, Schwarzer N, Grasshoff S, Märzheuser S Deutsches Netzwerk für Congenitale Uro-REktale Fehlbildungen (CURE-Net): Erste Auswertungen und Interpretationen postoperativer und genereller Komplikationen bei Patienten mit anorektalen Malformationen. Presentation at the 49th annual meeting of the German Society for Pediatric Surgery from 22.-25. September 2011 in Bielefeld, Germany. Schmiedeke E, Zwink N, Jenetzky E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Noeker M, Schmitz M, Spychalski N, Reutter H GERMAN NETWORK FOR CONGENITAL URO-RECTAL MALFORMATIONS (CURE-NET): OUTCOME IN VATER PATIENTS ACCORDING TO THE KRICKENBECK CRITERIA. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. Grasshoff-Derr S, Jenetzky E, Zwink N, Reutter H, Bartels E, Schmidt D, Holland-Cunz S, Märzheuser S, Schwarzer N, Hosie S, Schmiedeke E GERMAN NETWORK FOR CONGENITAL URO-RECTAL MALFORMATIONS (CURE-NET): TETHERED CORD IN PATIENTS WITH ANORECTAL MALFORMATION. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. Zwink N, CURE-Net consortium, Jenetzky E, Brenner HPARENTAL RISK FACTORS AND ANORECTAL MALFORMATIONS: SYSTEMATIC REVIEW AND META- ANALYSIS. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. Zwink N, CURE-Net consortium, Jenetzky E, Brenner HPARENTAL RISK FACTORS AND ANORECTAL MALFORMATIONS: SYSTEMATIC REVIEW AND META- ANALYSIS. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th July 2011 in Ankara, Turkey. Grasshoff-Derr S, Backhaus K, Meyer T UNCURABLE PATIENTS: SUCCESSFUL TREATMENT OF PATIENTS WITH WITH ARM AND INCONTINENCE BY HYDROCOLONIC ULTRASOUND AND BOWEL MANAGEMENT. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. Märzheuser S, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Schmiedeke E, Schwarzer N, Schmidt DGERMAN NETWORK FOR CONGENITAL URO-RECTAL MALFORMATIONS (CURE-NET): FIRST EVALUATION AND INTERPRETATION OF POSTOPERATIVE UROLOGICAL COMPLICATIONS IN ANORECTAL MALFORMATION. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th July 2011 in Ankara, Turkey. Schwarzer N, Lemli A, Detering S, Zwink N, Märzheuser S, Palta M, Jenetzky E“FILE FOLDER OF MEDICAL REPORTS” – INCLUDE YOUR PATIENT IN YOUR INFORMATION – YOU BOTH WILL BENEFIT FROM IT. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. Schmiedeke E, Jenetzky E, Zwink N, Reutter H, Bartels E, Schmidt D, Hosie S, Weih S, Holland-Cunz S, Grasshoff-Derr S, Märzheuser S, Spychalsk N·WHICH ANORECTAL ATRESIA-PATIENT SHOULD BE CONSIDERED A VATER/VACTERL CASE? AN APPEAL FOR THE EXACT DEFINITION OF A COMMON ASSOCIATION. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th Julne 2011 in Ankara, Turkey. Noeker M, Schmitz M,·Jenetzky E, Zwink N, Reutter H,Schmidt D, Schmiedeke EMEDICAL PREDICTORS OF PSYCHOLOGICAL ANXIETIES IN VATER PATIENTS. Presentation at the 18th International Paediatric Colorectal Club Meeting from 10th-12th June 2011 in Ankara, Turkey. 2010Jenetzky E, Reutter H Nationales Register für kongenitale uro-rektale Fehlbildungen (CURE-Net). Poster presentation at the 48th annual meeting of the German Society for Pediatric Surgery from 16th-19th September 2010 in Potsdam/Babelsberg, Germany. Zwink N, CURE-Net Consortium, Brenner H, Jenetzky E Establishing of a nationalen register for congenital uro-rektal Malformations (CURE-Net) – New chances in reseach on two rare diseases. Poster presentation at the 55th annual meeting of the GMDS from 5th-9th September 2010 in Mannheim, Germany. Wijers L, de Blaauw I, Marcelis C, Midrio P, Gamba PG, Clementi M, Reutter H, Jenetzky E, Crétolle C, Sarnacki S, Knoers N, Roeleveld N, Wijnen R, van Rooij I (Nijmegen, The Netherlands - Padova, Italy - Bonn, Germany - Heidelberg, Germany - Paris, France) Congenital anorectal malformations: genetic and environmental risk factors. Presentation at the 17th International Paediatric Colorectal Club Meeting from 17th-19th July 2010 in Padova, Italy. Schwarzer N, Lemli A, Jenetzky E Holistic follow up for patients with ARM - pilot project of SoMA e.V. Presentation auf dem 17th International Paediatric Colorectal Club Meeting from 17th-19th July 2010 in Padova, Italy. Märzheuser S, Schmidt D, David S, Rothe K Hydrocolonic sonography: a helpful diagnostic tool to implement effective bowel management. Presentation at the 17th International Paediatric Colorectal Club Meeting from 17th-19th July 2010 in Padova, Italy. Jenetzky E, Zwink N, Brenner H, Reutter H National Register for congenital uro-rektal Malformations (CURE-Net). Poster presentation at the 36th annual meeting of the Society for Society for Neonatology and Pediatric Intensive Care (GNPI) from 17th-19th June 2010 in Saarbrücken, Germany. Published in Klinische Paediatrie 222 (Suppl. 1): S73-S75 Schmiedeke E, Reutter H, Jenetzky E, Schwarzer N, Grasshoff S, Hosie S, Holland-Cunz S, Reifferscheid P, Märzheuser S Systematische Erforschung der Ursachen sowie operativen und psychosozialen Langzeitergebnisse uro-rektaler Fehlbildungen. Presentation at the Kongress Neonatalchirurgie on the 13. September 2010 in Altonaer Childrenshospital in Hamburg, Germany. Published in Z Geburtshilfe Neonatol 2010, 214: V2. 2009Holland-Cunz S. CURE Netzwerk – Vorstellung des epidemiologischen, genetischen und klinischen Forschungsprojektes zu Anorektalen Fehlbildungen und Blasenektrophie. Poster presentation no. 86 at the 126. Congress of the German Society for Surgery from 28.April to 1.May 2009 in Munich, Germany. Jenetzky E, Reutter H, CURE-Net Consortium. German network for uro-rectal malformations (CURE-NET).
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