Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Antje Wiesener"'
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Publikováno v:
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
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://doaj.org/article/53593e35407b4010bb8e4e02f0479df0
Autor:
Diana Zahnleiter, Steffen Uebe, Arif B Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T Thiel
Publikováno v:
PLoS Genetics, Vol 9, Iss 3, p e1003365 (2013)
Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide p
Externí odkaz:
https://doaj.org/article/f192932adb4047e3aba1b8fdcd069aca
Autor:
Marcella Zollino, Bernt Popp, Charlotte Brasch-Andersen, Jakob Ek, Giuseppe Marangi, Lotte Nylandsted Krogh, Laura Roos, Pernille Mathiesen Tørring, Tina Duelund Hjortshøj, Lone W. Laulund, Niels Ove Illum, Maria Kibaek, Naja Becher, Ulrike Dunkhase-Heinl, Christina Fagerberg, Antje Wiesener, Ida Vogel, Martin Jakob Larsen
Publikováno v:
Tørring, P M, Larsen, M J, Brasch-Andersen, C, Krogh, L N, Kibæk, M, Laulund, L, Illum, N, Dunkhase-Heinl, U, Wiesener, A, Popp, B, Marangi, G, Hjortshøj, T D, Ek, J, Vogel, I, Becher, N, Roos, L, Zollino, M & Fagerberg, C R 2019, ' Is MED13L-related intellectual disability a recognizable syndrome? ', European Journal of Medical Genetics, vol. 62, no. 2, pp. 129-136 . https://doi.org/10.1016/j.ejmg.2018.06.014
INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the litera
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:
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:
Christian Thiel, H. G. Doerr, Christian Büttner, Martin Zenker, Christiane Zweier, Perundurai S. Dhandapany, Steffen Uebe, Carina Vogl, Heinrich Sticht, André Reis, Dagmar Wieczorek, Cornelia Kraus, Rami Abou Jamra, Alessandro De Luca, Anna Marie Jung, Leila Taher, Patrizia Klinger, Bernt Popp, Arif B. Ekici, Fulvia Ferrazzi, Anita Rauch, Tilman R. Rohrer, Erdmute Kunstmann, Antje Wiesener, Nadine N. Hauer
Publikováno v:
European Journal of Human Genetics
Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate g