المؤلفون: Zhang R; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Marsch F; Institute of Human Genetics, University of Bonn, Bonn, Germany., Kause F; Institute of Human Genetics, University of Bonn, Bonn, Germany., Degenhardt F; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany., Hoppe B; Department of Pediatrics, University Medical Center, Bonn, Germany., Bachour H; Department of Pediatric Surgery, University Hospital Bonn, Bonn, Germany., Boemers TM; Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany., Schäfer M; Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany., Spychalski N; Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany., Neser J; Department of Pediatric Surgery, General Hospital, Chemnitz, Germany., Leonhardt J; Department of Pediatric Surgery, St. Bernward-Krankenhaus, Hildesheim, Germany., Kosch F; Department of Pediatric Surgery, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany., Ure B; Center of Pediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany., Gómez B; Department of Pediatric Surgery, Children's and Youth Hospital 'Auf der Bult', Hannover, Germany., Lacher M; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Deffaa OJ; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Palta M; Department of Pediatric Surgery, Evangelisches Krankenhaus Hamm, Hamm, Germany., Wittekindt B; Clinic for Pediatric and Adolescent Medicine, University Hospital, Frankfurt, Germany., Kleine K; Department of Pediatric Surgery, Evangelisches Krankenhaus Oberhausen, Germany., Schmedding A; Department of Paediatric Surgery and Paediatric Urology, University Hospital of the Goethe-University Frankfurt/M, Frankfurt/M, Germany., Grasshoff-Derr S; Department of Pediatric Surgery, Bürgerhospital, Frankfurt am Main, Germany., Ven AV; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Heilmann-Heimbach S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Zwink N; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany., Jenetzky E; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.; Department for Child and Adolescent Psychiatry, Johannes Gutenberg-University, Mainz, Germany.; Child Centre Maulbronn, Hospital for Paediatric Neurology and Social Paediatrics, Maulbronn, Germany., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

المصدر: Birth defects research [Birth Defects Res] 2017 Jul 17; Vol. 109 (13), pp. 1063-1069. Date of Electronic Publication: 2017 Jun 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

مواضيع طبية MeSH: Anus, Imperforate/*genetics , Esophagus/*abnormalities , Heart Defects, Congenital/*genetics , Radius/*abnormalities , Spine/*abnormalities , Trachea/*abnormalities, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adult ; Anal Canal/abnormalities ; Animals ; Anorectal Malformations/genetics ; Anus, Imperforate/complications ; Anus, Imperforate/metabolism ; DNA Copy Number Variations ; Esophagus/metabolism ; Female ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/metabolism ; Humans ; Karyotype ; Karyotyping ; Male ; Phenotype ; Radius/metabolism ; Spine/metabolism ; Trachea/metabolism

SCR Disease Name: VATER association

المؤلفون: Zwink N; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany., Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Otto-von-Guericke University, Magdeburg, Germany., Pötzsch S; Childrens Hospital, HELIOS Vogtland-Klinikum Plauen, Plauen, Germany., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany., Jenetzky E; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.; Child Center Maulbronn gGmbH, Hospital for Paediatric Neurology and Social Paediatrics, Maulbronn, Germany.; Department for Child and Adolescent Psychiatry, Johannes Gutenberg-University, Mainz, Germany.

مؤلفون مشاركون: CURE-Net Consortium

المصدر: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2016 Feb; Vol. 106 (2), pp. 133-41. Date of Electronic Publication: 2015 Dec 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-0760 (Electronic) Linking ISSN: 15420752 NLM ISO Abbreviation: Birth Defects Res A Clin Mol Teratol Subsets: MEDLINE

مواضيع طبية MeSH: Anal Canal/*abnormalities , Anus, Imperforate/*epidemiology , Maternal Exposure/*adverse effects , Paternal Exposure/*adverse effects , Rectum/*abnormalities , Smoking/*adverse effects, Anorectal Malformations ; Case-Control Studies ; Female ; Germany/epidemiology ; Gestational Age ; Humans ; Male ; Pregnancy ; Risk Factors

المؤلفون: Jenetzky E; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany., van Rooij IA; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Aminoff D; Associazione Italiana per le Malormazioni Anorettali-AIMAR, Rome, Italy., Schwarzer N; Self-Help Organisation for People with Anorectal Malformation-SoMA e.V., Munich, Germany., Reutter H; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany., Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Midrio P; Department of Pediatric Surgery, Ospedale Ca' Foncello, Treviso, Italy., de Blaauw I; Department of Pediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, The Netherlands.

المصدر: European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie [Eur J Pediatr Surg] 2015 Dec; Vol. 25 (6), pp. 481-7. Date of Electronic Publication: 2015 Dec 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Thieme Country of Publication: United States NLM ID: 9105263 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-359X (Electronic) Linking ISSN: 09397248 NLM ISO Abbreviation: Eur J Pediatr Surg Subsets: MEDLINE

مواضيع طبية MeSH: Registries*, Anal Canal/*abnormalities , Anus, Imperforate/*surgery , Rectum/*abnormalities, Anal Canal/surgery ; Anorectal Malformations ; Anus, Imperforate/diagnosis ; Europe ; Humans ; Rectum/surgery

المؤلفون: Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany, eberhard.schmiedeke@klinikum-bremen-mitte.de., de Blaauw I, Lacher M, Grasshoff-Derr S, Garcia-Vazquez A, Giuliani S, Midrio P, Gamba P, Iacobelli B, Bagolan P, Brisighelli G, Leva E, Cretolle C, Sarnacki S, Broens P, Sloots C, van Rooij I, Schwarzer N, Aminoff D, Haanen M, Jenetzky E

المصدر: Pediatric surgery international [Pediatr Surg Int] 2015 Aug; Vol. 31 (8), pp. 741-5. Date of Electronic Publication: 2015 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8609169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-9813 (Electronic) Linking ISSN: 01790358 NLM ISO Abbreviation: Pediatr Surg Int Subsets: MEDLINE

مواضيع طبية MeSH: Anal Canal/*abnormalities , Anus, Imperforate/*surgery , Health Facilities/*standards , Rectum/*abnormalities, Anal Canal/surgery ; Anorectal Malformations ; European Union ; Humans ; Quality of Health Care ; Rectum/surgery

المؤلفون: Dworschak GC; Institute of Human Genetics, University of Bonn, Bonn, Germany., Draaken M, Hilger AC, Schramm C, Bartels E, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Lacher M, Jenetzky E, Zwink N, Schmidt D, Nöthen MM, Ludwig M, Reutter H

المصدر: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2015 Apr; Vol. 103 (4), pp. 235-42. Date of Electronic Publication: 2014 Sep 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-0760 (Electronic) Linking ISSN: 15420752 NLM ISO Abbreviation: Birth Defects Res A Clin Mol Teratol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Abnormalities, Multiple/*genetics , Anal Canal/*abnormalities , Anus, Imperforate/*genetics , Central Nervous System/*abnormalities , DNA Copy Number Variations/*genetics , Rectum/*abnormalities, Abnormalities, Multiple/pathology ; Adolescent ; Anal Canal/pathology ; Anorectal Malformations ; Anus, Imperforate/pathology ; Child ; Chromosome Mapping/methods ; Female ; Haplotypes/genetics ; Humans ; Karyotyping ; Male ; Rectum/pathology ; Young Adult

المؤلفون: van der Steeg HJ; Department of Surgery-Pediatric Surgery, Amalia Children's Hospital-Radboudumc, Nijmegen, The Netherlands, herjan.vandersteeg@radboudumc.nl., Schmiedeke E, Bagolan P, Broens P, Demirogullari B, Garcia-Vazquez A, Grasshoff-Derr S, Lacher M, Leva E, Makedonsky I, Sloots CE, Schwarzer N, Aminoff D, Schipper M, Jenetzky E, van Rooij IA, Giuliani S, Crétolle C, Holland Cunz S, Midrio P, de Blaauw I

المصدر: Techniques in coloproctology [Tech Coloproctol] 2015 Mar; Vol. 19 (3), pp. 181-5. Date of Electronic Publication: 2015 Jan 22.

نوع المنشور: Consensus Development Conference; Journal Article

بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 9613614 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1128-045X (Electronic) Linking ISSN: 11236337 NLM ISO Abbreviation: Tech Coloproctol Subsets: MEDLINE

مواضيع طبية MeSH: Anus, Imperforate/*diagnosis , Anus, Imperforate/*surgery, Abnormalities, Multiple/surgery ; Anorectal Malformations ; Anus, Imperforate/classification ; Europe ; Female ; Humans ; Infant, Newborn ; Male ; Plastic Surgery Procedures/standards ; Rectal Fistula/surgery

المؤلفون: Wijers CH; Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands., de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA

المصدر: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2014 Jun; Vol. 100 (6), pp. 483-92. Date of Electronic Publication: 2014 May 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-0760 (Electronic) Linking ISSN: 15420752 NLM ISO Abbreviation: Birth Defects Res A Clin Mol Teratol Subsets: MEDLINE

مواضيع طبية MeSH: Dietary Supplements* , Polymorphism, Genetic*, Anal Canal/*abnormalities , Anus, Imperforate/*epidemiology , Folic Acid/*administration & dosage , Methylenetetrahydrofolate Reductase (NADPH2)/*genetics , Rectum/*abnormalities, Adult ; Anal Canal/surgery ; Anorectal Malformations ; Anus, Imperforate/genetics ; Anus, Imperforate/surgery ; Case-Control Studies ; Female ; Gene Expression ; Gene-Environment Interaction ; Humans ; Infant, Newborn ; Male ; Netherlands/epidemiology ; Odds Ratio ; Perinatal Care ; Pregnancy ; Rectum/surgery ; Risk Factors ; Surveys and Questionnaires

المؤلفون: Choinitzki V; Institute of Human Genetics, University of Bonn, Bonn, Germany., Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H

المصدر: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2013 Dec; Vol. 97 (12), pp. 786-91. Date of Electronic Publication: 2013 Dec 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-0760 (Electronic) Linking ISSN: 15420752 NLM ISO Abbreviation: Birth Defects Res A Clin Mol Teratol Subsets: MEDLINE

مواضيع طبية MeSH: Anal Canal/*abnormalities , Anus, Imperforate/*pathology , Esophageal Atresia/*pathology , Esophagus/*abnormalities , Heart Defects, Congenital/*pathology , Kidney/*abnormalities , Limb Deformities, Congenital/*pathology , Radius/*abnormalities , Spine/*abnormalities , Trachea/*abnormalities , Tracheoesophageal Fistula/*pathology, Adolescent ; Adult ; Anal Canal/pathology ; Anus, Imperforate/genetics ; Case-Control Studies ; Child ; Esophageal Atresia/complications ; Esophageal Atresia/genetics ; Esophagus/pathology ; Female ; Heart Defects, Congenital/genetics ; Humans ; Inheritance Patterns ; Kidney/pathology ; Limb Deformities, Congenital/genetics ; Male ; Pedigree ; Radius/pathology ; Risk ; Siblings ; Spine/pathology ; Trachea/pathology ; Tracheoesophageal Fistula/complications ; Tracheoesophageal Fistula/genetics

SCR Disease Name: VACTERL association; VATER association

المؤلفون: de Blaauw I; Department of Pediatric Surgery, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands; Department of Pediatric Surgery, Sophia Children's Hospital-Erasmus MC, Rotterdam, The Netherlands. Electronic address: i.deblaauw@chir.umcn.nl., Wijers CH, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CL, Reutter H, Aminoff D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IA

المصدر: Journal of pediatric surgery [J Pediatr Surg] 2013 Dec; Vol. 48 (12), pp. 2530-5.

نوع المنشور: Evaluation Study; Journal Article; Multicenter Study

بيانات الدورية: Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE

مواضيع طبية MeSH: Anus, Imperforate*/diagnosis , Anus, Imperforate*/epidemiology , Anus, Imperforate*/surgery , Registries*, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/surgery ; Anorectal Malformations ; Chromosome Aberrations ; Comorbidity ; Europe/epidemiology ; Female ; Humans ; Incidence ; Infant, Newborn ; Male ; Postoperative Complications ; Retrospective Studies ; Syndrome ; Treatment Outcome ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/epidemiology ; Urogenital Abnormalities/surgery

المؤلفون: Dworschak GC; Institute of Human Genetics, University of Bonn, Bonn, Germany., Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IA, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rissmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3035-41. Date of Electronic Publication: 2013 Aug 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Anus, Imperforate/*genetics , Anus, Imperforate/*physiopathology , Chromosome Disorders/*genetics , Ephrin-B2/*genetics , Esophagus/*abnormalities , Heart Defects, Congenital/*physiopathology , Radius/*abnormalities , Spine/*abnormalities , Trachea/*abnormalities, Animals ; Anorectal Malformations ; Anus, Imperforate/complications ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 13/genetics ; Disease Models, Animal ; Esophagus/physiopathology ; Female ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/genetics ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/physiopathology ; Male ; Mice ; Mice, Knockout ; Mutation ; Radius/physiopathology ; Spine/physiopathology ; Trachea/physiopathology

SCR Disease Name: 13q deletion syndrome; VATER association