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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R.
Afiliação
  • Brioude F; Sorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
  • Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.
  • Foster AC; Neonatal Intensive Care Unit, Department of Gynaecology and Obstetrics, Sant'Anna Hospital, Città della Salute e della Scienza di Torino, Corso Spezia 60, 10126 Torino, Italy.
  • Bliek J; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham B15 2TG, UK.
  • Ferrero GB; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.
  • Boonen SE; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, PO Box 7057 1007 MB Amsterdam, The Netherlands.
  • Cole T; Department of Public Health and Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy.
  • Baker R; Clinical Genetic Unit, Department of Pediatrics, Zealand University Hospital, Sygehusvej 10 4000 Roskilde, Denmark.
  • Bertoletti M; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham B15 2TG, UK.
  • Cocchi G; Beckwith-Wiedemann Support Group UK, The Drum and Monkey, Wonston, Hazelbury Bryan, Sturminster Newton, Dorset DT10 2EE, UK.
  • Coze C; Italian Association of Beckwith-Wiedemann syndrome (AIBWS) Piazza Turati, 3, 21029, Vergiate (VA), Italy.
  • De Pellegrin M; Alma Mater Studiorum, Bologna University, Paediatric Department, Neonatology Unit, Via Massarenti 11, 40138 Bologna BO, Italy.
  • Hussain K; Aix-Marseille Univ et Assistance Publique Hôpitaux de Marseille (APHM), Hôpital d'Enfants de La Timone, Service d'Hématologie-Oncologie Pédiatrique, 264 Rue Saint Pierre, 13385 Marseille, France.
  • Ibrahim A; Pediatric Orthopaedic Unit IRCCS Ospedale San Raffaele, Milan, Via Olgettina Milano, 60, 20132 Milano MI, Italy.
  • Kilby MD; Department of Paediatric Medicine, Division of Endocrinology, Sidra Medical and Research Center, Al Gharrafa Street, Ar-Rayyan, Doha, Qatar.
  • Krajewska-Walasek M; Department of Plastic and Reconstructive Surgery, North Bristol National Health Service (NHS) Trust, Southmead Hospital, Bristol BS10 5NB, UK.
  • Kratz CP; Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
  • Ladusans EJ; Fetal Medicine Centre, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Edgbaston, Birmingham, B15 2TG, UK.
  • Lapunzina P; Department of Medical Genetics, The Children's Memorial Health Institute, 20, 04-730, Warsaw, Poland.
  • Le Bouc Y; Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Strasse 1 30625, Hannover, Germany.
  • Maas SM; Department of Paediatric Cardiology, Royal Manchester Children's Hospital, Manchester, M13 8WL UK.
  • Macdonald F; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain.
  • Õunap K; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, Spain.
  • Peruzzi L; Sorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
  • Rossignol S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, PO Box 7057 1007 MB Amsterdam, The Netherlands.
  • Russo S; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, B15 2TG UK.
  • Shipster C; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, L. Puusepa 2, 51014, Tartu, Estonia.
  • Skórka A; European Society for Paediatric Nephrology (ESPN), Inherited Kidney Disorders Working Group.
  • Tatton-Brown K; AOU Città della Salute e della Scienza di Torino, Regina Margherita Children's Hospital, Turin, Italy.
  • Tenorio J; Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Laboratoire de Génétique Médicale, INSERM U1112 Avenue Molière 67098 STRASBOURG Cedex, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 4 Rue Kirschleger, 67000 Strasbourg, France.
  • Tortora C; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Via Zucchi 18, 20095 Cusano, Milan, Italy.
  • Grønskov K; Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, WC1N 3JH, UK.
  • Netchine I; Department of Medical Genetics, The Children's Memorial Health Institute, 20, 04-730, Warsaw, Poland.
  • Hennekam RC; Department of Pediatrics, The Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warszawa, Poland.
  • Prawitt D; South West Thames Regional Genetics Service and St George's University of London and Institute of Cancer Research, London, SW17 0RE, UK.
  • Tümer Z; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, 261, 28046, Madrid, Spain.
  • Eggermann T; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Calle de Melchor Fernández Almagro, 3, 28029, Madrid, Spain.
  • Mackay DJG; Regional Center for CLP, Smile House, San Paolo University Hospital, Via Antonio di Rudinì, 8, 20142, Milan, Italy.
  • Riccio A; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
  • Maher ER; Sorbonne Université, Pierre and Marie Curie-Paris VI University (UPMC) Université Paris 06, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Explorations Fonctionnelles Endocriniennes, 26 Avenue du Docteur Arnold Netter, F-75012 Paris, France.
Nat Rev Endocrinol ; 14(4): 229-249, 2018 04.
Article em En | MEDLINE | ID: mdl-29377879
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Consenso Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Nat Rev Endocrinol Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Consenso Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: Nat Rev Endocrinol Ano de publicação: 2018 Tipo de documento: Article