Your browser doesn't support javascript.
loading
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann, Matthias; Rezwan, Faisal I; Beygo, Jasmin; Docherty, Louise E; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L S; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Bich Ngoc, Can Thi; Chi Dung, Vu; Mehta, Sarju G; Baynam, Gareth; Hamilton-Shield, Julian P; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J G.
  • Begemann M; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
  • Rezwan FI; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Docherty LE; MRC Human Genetics Unit, The Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Kolarova J; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Schroeder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Buiting K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Chokkalingam K; Department of Diabetic Medicine, Nottingham University Hospital NHS Trust, Nottingham, UK.
  • Degenhardt F; Institute of Human Genetics, Bonn, Germany.
  • Wakeling EL; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK.
  • Kleinle S; Medical Genetics Center München, München, Germany.
  • González Fassrainer D; Medical Genetics Center München, München, Germany.
  • Oehl-Jaschkowitz B; Praxis für Humangenetik Homburg, Homburg, Germany.
  • Turner CLS; Peninsula Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
  • Patalan M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.
  • Gizewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.
  • Binder G; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany.
  • Bich Ngoc CT; Department of Medical Genetics, Metabolism and Endocrinology, The National Children's Hospital, Hanoi, Vietnam.
  • Chi Dung V; Department of Medical Genetics, Metabolism and Endocrinology, The National Children's Hospital, Hanoi, Vietnam.
  • Mehta SG; Department of Clinical Genetics, Cambridge University Hospitals Trust, Cambridge, UK.
  • Baynam G; School of Paediatrics and Child Health, The University of Western Australia, Perth, Western Australia, Australia.
  • Hamilton-Shield JP; Genetic Services of Western Australian and Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
  • Aljareh S; School of Clinical Sciences, University of Bristol, Bristol, UK.
  • Lokulo-Sodipe O; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Horton R; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Siebert R; Wessex Clinical Genetics Service, University Hospital, Southampton, UK.
  • Elbracht M; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Temple IK; Wessex Clinical Genetics Service, University Hospital, Southampton, UK.
  • Eggermann T; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Mackay DJG; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
J Med Genet ; 55(7): 497-504, 2018 07.
Article en En | MEDLINE | ID: mdl-29574422

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Proteínas Adaptadoras Transductoras de Señales / Síndrome de Silver-Russell / Desiminasas de la Arginina Proteica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Año: 2018 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Proteínas Adaptadoras Transductoras de Señales / Síndrome de Silver-Russell / Desiminasas de la Arginina Proteica Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Newborn / Pregnancy Idioma: En Año: 2018 Tipo del documento: Article