Core Data Elements for Pregnancy Pharmacovigilance Studies Using Primary Source Data Collection Methods:Recommendations from the IMI ConcePTION Project

Autor: Jonathan L. Richardson, Alan Moore, Rebecca L. Bromley, Michael Stellfeld, Yvonne Geissbühler, Matthew Bluett-Duncan, Ursula Winterfeld, Guillaume Favre, Amalia Alexe, Alison M. Oliver, Yrea R. J. van Rijt-Weetink, Kenneth K. Hodson, Bita Rezaallah, Eugene P. van Puijenbroek, David J. Lewis, Laura M. Yates

Publikováno v: Richardson, J L, Moore, A, Bromley, R L, Stellfeld, M, Geissbühler, Y, Bluett-Duncan, M, Winterfeld, U, Favre, G, Alexe, A, Oliver, A M, van Rijt-Weetink, Y R J, Hodson, K K, Rezaallah, B, van Puijenbroek, E P, Lewis, D J & Yates, L M 2023, ' Core Data Elements for Pregnancy Pharmacovigilance Studies Using Primary Source Data Collection Methods : Recommendations from the IMI ConcePTION Project ', Drug Safety . https://doi.org/10.1007/s40264-023-01291-7

INTRODUCTION AND OBJECTIVE: The risks and benefits of medication use in pregnancy are typically established through post-marketing observational studies. As there is currently no standardised or systematic approach to the post-marketing assessment of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c4bd30c9f9fa284e022ab5e27bbb4f
https://research.manchester.ac.uk/en/publications/526efee3-f4f3-49fd-bc3a-f762e6ad9737

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

Autor: Jessika Johannsen, Jonas Denecke, Roberto Colombo, Tatjana Bierhals, Marta Bertoli, Franziska Degenhardt, Eva Wohlleber, Tim M. Strom, Alexander M. Zink, Jessica Becker, Davor Lessel, Elisabeth Mangold, Dagmar Wieczorek, Laura M Yates, Kirsten Cremer, Hartmut Engels, Kerstin U. Ludwig, Sophia Peters, Theresia Herget, Maja Hempel, Isabelle C Windheuser, Hela Hundertmark

Publikováno v: Am. J. Med. Genet. A 182, 1021-1031 (2020)

Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L is assumed to be the-at least mainly-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6687b40b1f36cdad3881b0200ff57d0
https://doi.org/10.1002/ajmg.a.61515

Prescribing medicines in pregnancy

Autor: Laura M. Yates, Simon H.L. Thomas

Publikováno v: Medicine. 44:438-443

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b98e5085daf005f5b1e72b6d92c792f1
https://doi.org/10.1016/j.mpmed.2016.04.012

List of Contributors

Autor: Mark Anderson, Susan M. Barlow, Matitiahu Berkovitch, Cornelia Borisch, Christina D. Chambers, Maurizio Clementi, Benedikte-Noël Cuppers, Maria Ellfolk, Jan M. Friedman, Lee H. Goldstein, Juliane Habermann, Henry M. Hess, Stefanie Hultzsch, Eleanor Hüttel, Angela Kayser, Gudula Kirtschig, Ruth A. Lawrence, Fernanda Sales luiz Vianna, Heli Malm, Paul Merlob, Richard K. Miller, Marc Oppermann, Asher Ornoy, Stephanie Padberg, Mary Panse, Paul Peters, Janine E. Polifka, Christof Schaefer, Lavinia Schüler-Faccini, Sally Stephens, Frank M. Sullivan, Gerard H.A. Visser, Corinna Weber-SchÖendorfer, Bernke Te Winkel, Katherine L. Wisner, Laura M. Yates

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::31c66fc8124d2697bdc7812f72f3e6e4
https://doi.org/10.1016/b978-0-12-408078-2.01002-7

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Autor: Windheuser IC; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Becker J; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Hundertmark H; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Yates LM; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Laura M. Yates, Inkosi Albert Letholi Central Hospital and KRISP, University of KwaZulu-Natal, KwaZulu-Natal, South Africa., Mangold E; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Degenhardt F; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Ludwig KU; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Zink AM; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wohlleber E; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Bertoli M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK., Colombo R; Faculty of Medicine 'Agostino Gemelli', Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Hereditary Diseases, CeSMER, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Engels H; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1021-1031. Date of Electronic Publication: 2020 Feb 17.