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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann, Katja; Bliek, Jet; Brioude, Frédéric; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tümer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irène; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Grønskov, Karen; Mackay, Deborah Jg; Eggermann, Thomas.
  • Eggermann K; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
  • Bliek J; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Brioude F; INSERM, UMR_S 938, Paris, France.
  • Algar E; Sorbonne Universities, UPMC Univ Paris 06; UMR_S 938, Paris, France.
  • Buiting K; Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France.
  • Russo S; Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute, Clayton, VIC, Australia.
  • Tümer Z; Institut für Humangenetik, Universität Duisburg-Essen, Essen, Germany.
  • Monk D; Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano IRCCS, Milano, Italy.
  • Moore G; Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.
  • Antoniadi T; Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Barcelona, Spain.
  • Macdonald F; Fetal Growth and Developmental Group, Genetics and Genomic Medicine Programme, UCL-ICH, London, UK.
  • Netchine I; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
  • Lombardi P; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK.
  • Soellner L; INSERM, UMR_S 938, Paris, France.
  • Begemann M; Sorbonne Universities, UPMC Univ Paris 06; UMR_S 938, Paris, France.
  • Prawitt D; Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France.
  • Maher ER; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Mannens M; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
  • Riccio A; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
  • Weksberg R; Center for Pediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany.
  • Lapunzina P; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
  • Grønskov K; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Mackay DJ; DiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy.
  • Eggermann T; Institute of Genetics and Biophysics - ABT, CNR, Napoli, Italy.
Eur J Hum Genet ; 24(10): 1377-87, 2016 10.
Article en En | MEDLINE | ID: mdl-27165005
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Cromosomas Humanos Par 11 / Pruebas Genéticas / Guías de Práctica Clínica como Asunto / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans País como asunto: Europa Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Cromosomas Humanos Par 11 / Pruebas Genéticas / Guías de Práctica Clínica como Asunto / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans País como asunto: Europa Idioma: En Año: 2016 Tipo del documento: Article