Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Antje Wiesener"'
Autor:
Grace J. Noh, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lisa Ohden, Joshua L. Deignan, Jane Juusola, Naghmeh Dorrani, Katherine Agre, Anne Gregor, Vidya Krishnamurthy, Arif B. Ekici, Julian A. Martinez-Agosto, Vimla Aggarwal, T. Niroshi Senaratne, Seema R. Lalani, Antje Wiesener, Stella A. de Man, Mahshid S. Azamian, Marina S. Dutra-Clarke, Jill A. Rosenfeld, Ahna M. Neustadt, Daryl A. Scott, Brent L. Fogel, Stanley F. Nelson, Ghayda M. Mirzaa, Irma van de Beek, Kirsty McWalter, Wayne W. Grody, Rachel Straussberg, Ralitza H. Gavrilova, Hane Lee, Anna Fliedner, Quinten Waisfisz, Mieke M. van Haelst, Jessica Kianmahd, Fabiola Quintero-Rivera, Marina Dutra-Clarke, Rony Cohen, Laura Davis-Keppen, Anna Alkelai, Christiane Zweier, Fan Xia, Brooke Horist, Philipp Kirchner, Sung-Hae Kang, Franceska L. Hinkamp, Natalie Lippa, Valerie A. Arboleda
Publikováno v:
Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, ' Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing ', American journal of human genetics, vol. 107, no. 3, pp. 544-554 . https://doi.org/10.1016/j.ajhg.2020.06.019
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Press
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Press
RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9417770654c6a8fcc91fcdc725972c10
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478
Autor:
Gaël Nicolas, Yline Capri, Alban Ziegler, Christiane Zweier, Bénédicte Duban-Bedu, Roberta Polli, Neda Mazaheri, Alessandra Murgia, Cindy Colson, Pascale Saugier-Veber, Reza Maroofian, Laurence Perrin, François Lecoquierre, Stephan Waldmüller, Benjamin Cogné, Angelika Rieß, A.S. Lebre, M. Brasseur-Daudruy, Bert Callewaert, Antje Wiesener, Anne-Marie Guerrot, Thierry Frebourg, Thomas Smol, Benjamin Durand, Rebecca Buchert-Lo, Veronka Horber, Tobias B. Haack, Patrick Edery, Gabriella Vera, Gaetan Lesca, Geoffroy Delplancq, Sandra Mercier, Christopher Carroll, Maria Blandfort, Khaoula Zaafrane-Khachnaoui, Hamid Galehdari, Emanuela Leonardi, Arthur Sorlin, Fabienne Giulianno, Isabelle Sabatier, Florence Petit, Licia Turolla, Nicolas Chatron, Amélie Piton, Janine Magg, Estelle Colin, Stéphane Bézieau, Dominique Bonneau
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68443eb210ac2cf30fc6fb87c9f8cf57
https://hal.archives-ouvertes.fr/hal-02904491
https://hal.archives-ouvertes.fr/hal-02904491
Autor:
Miriam Wimmer, Mustafa Sahin, Henry Houlden, Elizabeth D. Buttermore, Joseph M. Scarrott, Antje Wiesener, Agathe Roubertie, Teresa Chen, Margaret S. Robinson, Sofia T. Duarte, Thomas Bourinaris, Robert Behne, Lee Barrett, Jonathan O. Lipton, Devorah Segal, James T. Bennett, Darius Ebrahimi-Fakhari, Jennifer Hirst, Julian Teinert, Andrea Martinuzzi, Kathrin Eberhardt, Angelica D'Amore, Filippo M. Santorelli, Barbara Brechmann, Georg H. H. Borner, Sean Dwyer, Ivy Pin-Fang Chen, Alexandra K Davies, Mimoun Azzouz
Publikováno v:
Hum Mol Genet
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72475bec4d66828ce338e15e047d9884
https://europepmc.org/articles/PMC7001721/
https://europepmc.org/articles/PMC7001721/
Autor:
Antje Wiesener, Juliane Hoyer, Cornelia Kraus, André Reis, Arif B. Ekici, Christian Thiel, Christiane Zweier, Bernt Popp
Publikováno v:
European Journal of Human Genetics
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this pro
Autor:
Cornelia Kraus, Christiane Zweier, Rami Abou Jamra, Patricia Klinger, Sarah Schuhmann, Nadine N. Hauer, Steffen Uebe, Heinrich Sticht, Christian Thiel, Christian Büttner, Helmuth-Günther Dörr, Arif B. Ekici, Karen E. Heath, Fulvia Ferrazzi, Bernt Popp, Antje Wiesener, Alfonso Hisado-Oliva, Erdmute Kunstmann, Anita Rauch, Martin Zenker, Eva Schoeller, Dagmar Wieczorek, André Reis, Udo Trautmann
Publikováno v:
Genetics in Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Purpose Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. Methods We systematically phenotyped 565 pati
Autor:
Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish
Publikováno v:
Brain
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP
Autor:
Hester van Meer, Adi Mory, Anlu Chen, Mariam G Aslanyan, David A. Buchner, Volker Haucke, Antonio Bergua, Hagit N. Baris, Joseph G. Gleeson, Marrit M. Hitzert, Dov Tiosano, Christian Thiel, André Reis, Ronald Roepman, Emilio Hirsch, Patrick Rump, Deborah A Sival, Nadine N. Hauer, Karl X. Knaup, Brett Copeland, Josh Kriwinsky, Antje Wiesener, Federico Gulluni, Rolph Pfundt, Markus Schueler, Michael S. Wiesener
Publikováno v:
PLoS genetics, 15(4):1008088. PUBLIC LIBRARY SCIENCE
PLoS Genetics
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
Plos Genetics, 15
Plos Genetics, 15, 4
PLoS Genetics
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
Plos Genetics, 15
Plos Genetics, 15, 4
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the cellular level, PIK3C2A is critical for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e54ae955c0dc596f39c8afe4bc7e8ccd
https://research.rug.nl/en/publications/e8bcbfcf-80aa-4dff-be70-663326dd7e38
https://research.rug.nl/en/publications/e8bcbfcf-80aa-4dff-be70-663326dd7e38
Autor:
Gyri Aasland Gradek, Elliott H. Sherr, Vanessa Suckow, Kimia Kahrizi, Stephen W. Scherer, Ashwin Dalal, Marianne Till, Vera M. Kalscheuer, Elysa J. Marco, Antje Wiesener, Gaetan Lesca, Toshiyuki Yamamoto, Christoph Korenke, Usha R. Dutta, Sandra Mercier, Payman Jamali, Christian R. Marshall, Felicitas Becker, Hossein Najmabadi, Berge A. Minassian, Michael Alber, Susan Walker
Publikováno v:
Neurology. Genetics, vol 3, iss 3
Neurology Genetics
Neurology Genetics
Author(s): Alber, Michael; Kalscheuer, Vera M; Marco, Elysa; Sherr, Elliott; Lesca, Gaetan; Till, Marianne; Gradek, Gyri; Wiesener, Antje; Korenke, Christoph; Mercier, Sandra; Becker, Felicitas; Yamamoto, Toshiyuki; Scherer, Stephen W; Marshall, Chri
Autor:
Peter Wieacker, Anita Rauch, Deborah Bartholdi, Denise Horn, Eva Wohlleber, Angelika Riess, Nataliya Di Donato, Thomas Wieland, Maja Hempel, Beate Albrecht, Alexander M. Zink, Ute Moog, Antje Wiesener, Sabine Endele, Christian Thiel, Olaf Riess, Andreas Tzschach, Thomas Meitinger, Andreas Rump, Tim M. Strom, Christiane Zweier, Albrecht Röpke, Juliane Hoyer, Hartmut Engels, Thomas Schwarzmayr, André Reis, Dagmar Wieczorek, Heinrich Sticht, Jasmin Beygo, Harald Grallert, Annette Schenck, Pascal Joset, Gudrun A. Rappold, Andreas Dufke, Kirsten Cremer, Arif B. Ekici, Elisabeth Graf, Christa Meisinger, Evelin Schröck
Publikováno v:
The Lancet; Vol 380
The Lancet
The Lancet (London), 380, 1674-82
Lancet (London England)
The Lancet (London), 380, 9854, pp. 1674-82
The Lancet
The Lancet (London), 380, 1674-82
Lancet (London England)
The Lancet (London), 380, 9854, pp. 1674-82
Item does not contain fulltext BACKGROUND: The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about the position of such genes, and suitable screening methods. Our aim w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5efa059cc55c0106aa721d9788b9118
https://doi.org/10.1016/S0140-6736(12)61480-9
https://doi.org/10.1016/S0140-6736(12)61480-9