Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Autor: Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Karimi K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Lauzon-Young C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON, Canada., White-Brown AM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner CD; Greenwood Genetic Center, Greenwood, SC 29646, USA., van Rooij IALM; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., van de Putte R; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands., Hoischen A; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Brunner H; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Esteki MZ; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands., Pelet A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1643-1655. Date of Electronic Publication: 2024 Jul 31.

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The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics.

Autor: Hageman IC; Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.; Surgical Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Midrio P; Pediatric Surgery Unit, Cà Foncello Hospital, Treviso, Italy., van der Steeg HJJ; Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands., Jenetzky E; Department of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center of Johannes Gutenberg-University, Mainz, Germany.; Department of Medicine, Faculty of Health, Witten/Herdecke University, Witten, Germany., Iacobelli BD; Medical and Surgical Department of the Fetus-Newborn-Infant, Ospedale Bambin Gesù, Rome, Italy., Morandi A; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Sloots CEJ; Department of Pediatric Surgery, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands., Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Broens PMA; Department of Surgery, Division of Pediatric Surgery, University Medical Center Groningen, Groningen, The Netherlands., Fascetti Leon F; Pediatric Surgery Unit, University Hospital, Padua, Italy., Çavuşoğlu YH; Department of Pediatric Surgery, Gazi University Faculty of Medicine, Ankara, Turkey., Gorter RR; Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology and Metabolism Research Institute, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Trajanovska M; Surgical Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., King SK; Surgical Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Department of Paediatric Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia., Aminoff D; AIMAR-Associazione Italiana Malformazioni AnoRettali, Rome, Italy., Schwarzer N; SOMA-Selfhelp Organization for People with Anorectal Malformations e.V., Munich, Germany., Haanen M; VA-Dutch Patient Organization for Anorectal Malformations, Huizen, The Netherlands., de Blaauw I; Department of Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands., van Rooij IALM; Department for Health Evidence, Radboudumc, Nijmegen, The Netherlands.

Publikováno v: The British journal of surgery [Br J Surg] 2024 Jan 31; Vol. 111 (2).

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study

Autor: van der Steeg HJJ, van Rooij IALM, Iacobelli, Bd, Sloots, Cej, Morandi, A., Broens, Pma, Makedonsky, I., Leon, Ff, Schmiedeke, E., Vázquez, Ag, Miserez, M., Lisi, G., Paola Midrio, Amerstorfer, Ee, Fanjul, M., Ludwiczek, J., Stenström, P., van der Steeg AFW, Blaauw, I., On-Behalf-Of-The-Arm-Net-Consortiu, M.

Publikováno v: Journal of Pediatric Surgery, 57, 9, pp. 89-96
Journal of Pediatric Surgery, 57, 89-96
Journal of Pediatric Surgery, 57(9), 89-96. W B SAUNDERS CO-ELSEVIER INC
Journal of Pediatric Surgery, 57(9), 89-96. W.B. Saunders
Università degli Studi di Padova-IRIS

BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fc4c9f02fda89f629e8f41bcba94e5
http://hdl.handle.net/11577/3438911

Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.

Autor: de Beaufort CMC; Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl.; Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl.; Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl., Gorter RR; Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Iacobelli BD; Neonatal Surgery Unit, Clinical Area of Fetal, Neonatal and Cardiological Sciences, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy., Midrio P; Department of Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy., Sloots CEJ; Department of Pediatric Surgery, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands., Samuk I; Department of Pediatric and Adolescent Surgery, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel., van Rooij IALM; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Lisi G; Department of Pediatric Surgery, Spirito Santo Hospital, Pescara, G. d'Annunzio University, Chieti-Pescara, Italy.

Publikováno v: Pediatric surgery international [Pediatr Surg Int] 2023 Jul 28; Vol. 39 (1), pp. 242. Date of Electronic Publication: 2023 Jul 28.