One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Autor: Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Abstract Background Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad

Externí odkaz: https://doaj.org/article/4e0d71bb0418490ba2976642d45bd6ae

Constraint around Quarter-Power Allometric Scaling in Wild Tomatoes ( Solanum sect. Lycopersicon ; Solanaceae)

Autor: Muir, Christopher D., Thomas-Huebner, Meret

Publikováno v: The American Naturalist, 2015 Sep 01. 186(3), 421-433.

Externí odkaz: https://www.jstor.org/stable/10.1086/682409

Neural Correlates of Adolescent Irritability and Its Comorbidity With Psychiatric Disorders

Autor: Bader Chaarani, Kees-Jan Kan, Scott Mackey, Philip A. Spechler, Alexandra Potter, Tobias Banaschewski, Sabina Millenet, Arun L.W. Bokde, Uli Bromberg, Christian Büchel, Anna Cattrell, Patricia J. Conrod, Sylvane Desrivières, Herta Flor, Vincent Frouin, Jürgen Gallinat, Penny Gowland, Andreas Heinz, Bernd Ittermann, Jean-Luc Martinot, Frauke Nees, Tomáš Paus, Luise Poustka, Michael N. Smolka, Henrik Walter, Robert Whelan, Argyris Stringaris, Stephen T. Higgins, Gunter Schumann, Hugh Garavan, Robert R. Althoff, Dr. Michael Rapp, Dr. Eric Artiges, Sophia Schneider, Christine Bach, Dr. Tomas Paus, Alexis Barbot, Dr. Gareth Barker, Dr. Arun Bokde, Dr. Nora Vetter, Dr. Christian Büchel, Dr. Anna Cattrell, Patrick Constant, Dr. Hans Crombag, Katharina Czech, Dr. Jeffrey Dalley, Benjamin Decideur, Tade Spranger, Dr. Tamzin Ripley, Dr. Nadja Heym, Dr. Wolfgang Sommer, Birgit Fuchs, Dr. Jürgen Gallinat, Dr. Hugh Garavan, Dr. Rainer Spanagel, Mehri Kaviani, Dr. Bert Heinrichs, Dr. Andreas Heinz, Naresh Subramaniam, Dr. Tianye Jia, Albrecht Ihlenfeld, James Ireland, Dr. Bernd Ittermann, Dr. Patricia Conrod, Dr. Tobias Banaschewski, Jennifer Jones, Dr. Arno Klaassen, Christophe Lalanne, Dr. Dirk Lanzerath, Dr. Claire Lawrence, Dr. Hervé Lemaitre, Dr. Sylvane Desrivieres, Catherine Mallik, Dr. Karl Mann, Dr. Adam Mar, Lourdes Martinez-Medina, Dr. Jean-Luc Martinot, Eva Mennigen, Dr. Fabiana Mesquita de Carvahlo, Yannick Schwartz, Dr. Ruediger Bruehl, Kathrin Müller, Charlotte Nymberg, Dr. Mark Lathrop, Dr. Trevor Robbins, Dr. Zdenka Pausova, Dr. Jani Pentilla, Dr. Francesca Biondo, Dr. Jean-Baptiste Poline, Dr. Luise Poustka, Dr. Michael Smolka, Juliane Fröhner, Dr. Maren Struve, Dr. Steve Williams, Dr. Thomas Hübner, Semiha Aydin, John Rogers, Alexander Romanowski, Dr. Christine Schmäl, Dirk Schmidt, Stephan Ripke, Dr. Mercedes Arroyo, Dr. Florian Schubert, Dr. Yolanda Pena-Oliver, Mira Fauth-Bühler, Xavier Mignon, Dr. Robert Whelan, Dr. Claudia Speiser, Tahmine Fadai, Dr. Dai Stephens, Dr. Andreas Ströhle, Dr. Marie-Laure Paillere, Nicole Strache, David Theobald, Sarah Jurk, Dr. Helene Vulser, Ruben Miranda, Dr. Juliana Yacubilin, Alexander Genauck, Caroline Parchetka, Isabel Gemmeke, Johann Kruschwitz, Katharina Weiss, Dr. Henrik Walter, Jianfeng Feng, Dimitri Papadopoulos, Irina Filippi, Alex Ing, Dr. Barbara Ruggeri, Bing Xu, Christine Macare, Dr. Congying Chu, Eanna Hanratty, Dr. Erin Burke Quinlan, Dr. Gabriel Robert, Dr. Gunter Schumann, Dr. Tao Yu, Veronika Ziesch, Alicia Stedman

Publikováno v: Journal of the American Academy of Child & Adolescent Psychiatry. 59:1371-1379

Objective Irritable mood, a common and impairing symptom in psychopathology, has been proposed to underlie the developmental link between oppositional problems in youth and depression in adulthood. We examined the neural correlates of adolescent irri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00517c72e79e91153d9ef146511b91fc
https://doi.org/10.1016/j.jaac.2019.11.028

Early diagnosis and better rhythm management to improve outcomes in patients with atrial fibrillation: the 8th AFNET/EHRA consensus conference

Autor: Renate B Schnabel, Elena Andreassi Marinelli, Elena Arbelo, Giuseppe Boriani, Serge Boveda, Claire M Buckley, A John Camm, Barbara Casadei, Winnie Chua, Nikolaos Dagres, Mirko de Melis, Lien Desteghe, Søren Zöga Diederichsen, David Duncker, Lars Eckardt, Christoph Eisert, Daniel Engler, Larissa Fabritz, Ben Freedman, Ludovic Gillet, Andreas Goette, Eduard Guasch, Jesper Hastrup Svendsen, Stéphane N Hatem, Karl Georg Haeusler, Jeff S Healey, Hein Heidbuchel, Gerhard Hindricks, F D Richard Hobbs, Thomas Hübner, Dipak Kotecha, Michael Krekler, Christophe Leclercq, Thorsten Lewalter, Honghuang Lin, Dominik Linz, Gregory Y H Lip, Maja Lisa Løchen, Wim Lucassen, Katarzyna Malaczynska-Rajpold, Steffen Massberg, Jose L Merino, Ralf Meyer, Lluıs Mont, Michael C Myers, Lis Neubeck, Teemu Niiranen, Michael Oeff, Jonas Oldgren, Tatjana S Potpara, George Psaroudakis, Helmut Pürerfellner, Ursula Ravens, Michiel Rienstra, Lena Rivard, Daniel Scherr, Ulrich Schotten, Dipen Shah, Moritz F Sinner, Rüdiger Smolnik, Gerhard Steinbeck, Daniel Steven, Emma Svennberg, Dierk Thomas, Mellanie True Hills, Isabelle C van Gelder, Burcu Vardar, Elena Palà, Reza Wakili, Karl Wegscheider, Mattias Wieloch, Stephan Willems, Henning Witt, André Ziegler, Matthias Daniel Zink, Paulus Kirchhof

Publikováno v: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 25(1), 6-27
EP Europace, 25(1). Oxford University Press
Schnabel, R B, Marinelli, E A, Arbelo, E, Boriani, G, Boveda, S, Buckley, C M, Camm, A J, Casadei, B, Chua, W, Dagres, N, de Melis, M, Desteghe, L, Diederichsen, S Z, Duncker, D, Eckardt, L, Eisert, C, Engler, D, Fabritz, L, Freedman, B, Gillet, L, Goette, A, Guasch, E, Svendsen, J H, Hatem, S N, Haeusler, K G, Healey, J S, Heidbuchel, H, Hindricks, G, Hobbs, F D R, Hübner, T, Kotecha, D, Krekler, M, Leclercq, C, Lewalter, T, Lin, H, Linz, D, Lip, G Y H, Løchen, M L, Lucassen, W, Malaczynska-Rajpold, K, Massberg, S, Merino, J L, Meyer, R, Mont, L, Myers, M C, Neubeck, L, Niiranen, T, Oeff, M, Oldgren, J, Potpara, T S, Psaroudakis, G, Pürerfellner, H, Ravens, U, Rienstra, M, Rivard, L, Scherr, D, Schotten, U, Shah, D, Sinner, M F, Smolnik, R, Steinbeck, G, Steven, D, Svennberg, E, Thomas, D, True Hills, M, van Gelder, I C, Vardar, B, Palà, E, Wakili, R, Wegscheider, K, Wieloch, M, Willems, S, Witt, H, Ziegler, A, Daniel Zink, M & Kirchhof, P 2023, ' Early diagnosis and better rhythm management to improve outcomes in patients with atrial fibrillation : the 8th AFNET/EHRA consensus conference ', Europace, vol. 25, no. 1, euac062, pp. 6-27 . https://doi.org/10.1093/europace/euac062
Europace
EP Europace
Schnabel, R B, Marinelli, E A, Arbelo, E, Boriani, G, Boveda, S, Buckley, C M, Camm, A J, Casadei, B, Chua, W, Dagres, N, de Melis, M, Desteghe, L, Diederichsen, S Z, Duncker, D, Eckardt, L, Eisert, C, Engler, D, Fabritz, L, Freedman, B, Gillet, L, Goette, A, Guasch, E, Svendsen, J H, Hatem, S N, Haeusler, K G, Healey, J S, Heidbuchel, H, Hindricks, G, Hobbs, F D R, Huebner, T, Kotecha, D, Krekler, M, Leclercq, C, Lewalter, T, Lin, H, Linz, D, Lip, G Y H, Lochen, M L, Lucassen, W, Malaczynska-Rajpold, K, Massberg, S, Merino, J L, Meyer, R, Mont, L, Myers, M C, Neubeck, L, Niiranen, T, Oeff, M, Oldgren, J, Potpara, T S, Psaroudakis, G, Purerfellner, H, Ravens, U, Rienstra, M, Rivard, L, Scherr, D, Schotten, U, Shah, D, Sinner, M F, Smolnik, R, Steinbeck, G, Steven, D, Svennberg, E, Thomas, D, Hills, M T, van Gelder, I C, Vardar, B, Pala, E, Wakili, R, Wegscheider, K, Wieloch, M, Willems, S, Witt, H, Ziegler, A, Zink, M D & Kirchhof, P 2023, ' Early diagnosis and better rhythm management to improve outcomes in patients with atrial fibrillation : the 8th AFNET/EHRA consensus conference ', Europace, vol. 25, no. 1, pp. 6–27 . https://doi.org/10.1093/europace/euac062
Europace : the European journal of pacing, arrhythmias and cardiac electrophysiology euac062 (2022). doi:10.1093/europace/euac062

Europace : the European journal of pacing, arrhythmias and cardiac electrophysiology euac062 (2022). doi:10.1093/europace/euac062
Published by Oxford Univ. Press, Oxford

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7a85384a3b766a9678b2d56d741cc5

Low Smoking Exposure, the Adolescent Brain, and the Modulating Role of CHRNA5 Polymorphisms

Autor: Stephan Ripke, Anna Cattrell, Christophe Lalanne, Patricia J. Conrod, Tomáš Paus, Gunter Schumann, Jennifer Jones, K. Mann, Dirk Schmidt, Scott Mackey, Vincent Frouin, Eva Loth, Rainer Spanagel, Mira Fauth-Bühler, Andreas Ströhle, Jürgen Gallinat, Hélène Vulser, Jan Reuter, Catherine Mallik, Kelsey Hudson, Herta Flor, Amir M. Tahmasebi, Elliot A. Stein, Lindsay Smith, Philip A. Spechler, Bernadeta Walaszek, Kay Head, Tahmine Fadai, Frauke Nees, Bader Chaarani, Jani Pentilla, Michael A. Rapp, Uli Bromberg, Stephen T. Higgins, Argyris Stringaris, Kees-Jan Kan, Kathrin U. Müller, Craig Newman, Michael N. Smolka, Nicholas D'Alberto, Patrick Constant, Jean-Luc Martinot, Robert Whelan, Helen Werts, Claire Lawrence, Sylvane Desrivières, Nicole Strache, Laurence J. Reed, Arun L.W. Bokde, Zuleima Bricaud, Maren Struve, Jean-Baptiste Poline, Sabina Millenet, Ruediger Brühl, Tobias Banaschewski, Barbara Ruggeri, Andreas Heinz, Sophia Schneider, Kerstin Stueber, Charlotte Nymberg, Hugh Garavan, Christian Büchel, Zdenka Pausova, Robert R. Althoff, Albrecht Ihlenfeld, Catherine Orr, Eva Mennigen, Marcella Rietschel, Alexis Barbot, Alexandra Potter, Veronika Ziesch, Penny A. Gowland, Yvonne Grimmer, Jessica Massicotte, Nikolay Ivanov, Sarah Rodehacke, Yannick Schwartz, Stephanie Havatzias, Benjamin Thyreau, Chris Andrew, Juliana Yacubian, Luise Poustka, Nadja Heym, Thomas Hübner, André Galinowski, Dimitri Papadopoulos-Orfanos, L. Topper, Nora C. Vetter, Herve Lemaitre, Henrik Walter, Tianye Jia, Fanny Gollier Briand, Bernd Ittermann

Publikováno v: Biol Psychiatry Cogn Neurosci Neuroimaging

Background Studying the neural consequences of tobacco smoking during adolescence, including those associated with early light use, may help expose the mechanisms that underlie the transition from initial use to nicotine dependence in adulthood. Howe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e33357f6100236b4d1feeb0a48262bc0
https://doi.org/10.1016/j.bpsc.2019.02.006