Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Cathrine Jespersgaard"'
Autor:
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007780 (2018)
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order
Externí odkaz:
https://doaj.org/article/69ea9822f491409e90114bf9c70d2228
Autor:
Natalie J Forde, Ahmad S Kanaan, Joanna Widomska, Shanmukha S Padmanabhuni, Ester Nespoli, John Alexander, Juan I Rodriguez Arranz, Siyan Fan, Rayan Houssari, Muhammad S Nawaz, Nuno R Zilhão, Luca Pagliaroli, Francesca Rizzo, Tamas Aranyi, Csaba Barta, Tobias M Boeckers, Dorret I Boomsma, Wim R Buisman, Jan K Buitelaar, Danielle Cath, Andrea Dietrich, Nicole Driessen, Petros Drineas, Michell Dunlap, Sarah Gerasch, Jeffrey C Glennon, Bastian Hengerer, Odile A van den Heuvel, Cathrine Jespersgaard, Harald E Möller, Kirsten R Müller-Vahl, Thaïra Openneer, Geert Poelmans, Petra J W Pouwels, Jeremiah M Scharf, Hreinn Stefansson, Zeynep Tümer, Dick Veltman, Ysbrand D van der Werf, Pieter J Hoekstra, Andrea Ludolph, Peristera Paschou
Publikováno v:
Frontiers in Neuroscience, Vol 10 (2016)
Gilles de la Tourette Syndrome (GTS) is characterised by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly att
Externí odkaz:
https://doaj.org/article/90f6bdacaef049d58a711f485869c427
Autor:
Peder Fode, Anders Rhod Larsen, Bjarke Feenstra, Cathrine Jespersgaard, Robert Leo Skov, Marc Stegger, Vance G Fowler, Danish SAB Study Group Consortium, Paal Skytt Andersen
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e32315 (2012)
Human beta-defensins are key components of human innate immunity to a variety of pathogens, including Staphylococcus aureus. The aim of the present study was to investigate a potential association between gene variations in DEFB1 and DEFB103/DEFB4 an
Externí odkaz:
https://doaj.org/article/7e607d0edf0b4d2fbdb1f7846723f612
Autor:
Peder Fode, Cathrine Jespersgaard, Robert J Hardwick, Helen Bogle, Michael Theisen, Daniel Dodoo, Martin Lenicek, Libor Vitek, Ana Vieira, Joao Freitas, Paal Skytt Andersen, Edward J Hollox
Publikováno v:
PLoS ONE, Vol 6, Iss 2, p e16768 (2011)
There have been conflicting reports in the literature on association of gene copy number with disease, including CCL3L1 and HIV susceptibility, and β-defensins and Crohn's disease. Quantification of precise gene copy numbers is important in order to
Externí odkaz:
https://doaj.org/article/9424a1e1f90844acbc7ce1b96274bd53
Autor:
Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tumer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten R. Müller-Vahl, Danielle C. Cath, Dorret I. Boomsma, Tomasz Wolanczyk, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Shanmukha S. Padmanabhuni, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Evangelia Yannaki, John A. Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Jay A. Tischfield, Gary A. Heiman, A. Jeremy Willsey, Andrea Dietrich, Lea K. Davis, James J. Crowley, Carol A. Mathews, Jeremiah M. Scharf, Marianthi Georgitsi, Pieter J. Hoekstra, Peristera Paschou, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Christos Androutsos, Entela Basha, Luca Farkas, Jakub Fichna, Piotr Janik, Mira Kapisyzi, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Natalia Szejko, Urszula Szymanska, Vaia Tsironi, Alan Apter, Juliane Ball, Benjamin Bodmer, Emese Bognar, Judith Buse, Marta Correa Vela, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Marcos Madruga-Garrido, Alessandra Pellico, Daphna Ruhrman, Jaana Schnell, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Victoria L. Turner, Elif Weidinger, John Alexander, Tamas Aranyi, Wim R. Buisman, Jan K. Buitelaar, Nicole Driessen, Petros Drineas, Siyan Fan, Natalie J. Forde, Sarah Gerasch, Odile A. van den Heuvel, Cathrine Jespersgaard, Ahmad S. Kanaan, Harald E. Möller, Muhammad S. Nawaz, Ester Nespoli, Luca Pagliaroli, Geert Poelmans, Petra J.W. Pouwels, Francesca Rizzo, Dick J. Veltman, Ysbrand D. van der Werf, Joanna Widomska, Nuno R. Zilhäo, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Thomas V. Fernandez, Donald L. Gilbert, Hyun Ju Hong, Laura Ibanez-Gomez, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Athanasios Maras, Tara L. Murphy, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Matthew W. State, Frank Visscher, Sheng Wang, Samuel H. Zinner
Publikováno v:
Biological Psychiatry. Elsevier USA
Biological psychiatry. Elsevier USA
The TSAICG, The TIC Genetics Collaborative Group, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The PGC TS Working Group 2023, ' Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Tsetsos, F, Topaloudi, A, Jain, P, Cath, D C, Boomsma, D I, Georgitsi, M, Hoekstra, P J, Paschou, P & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2023, ' Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Biological psychiatry. Elsevier USA
The TSAICG, The TIC Genetics Collaborative Group, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The PGC TS Working Group 2023, ' Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Tsetsos, F, Topaloudi, A, Jain, P, Cath, D C, Boomsma, D I, Georgitsi, M, Hoekstra, P J, Paschou, P & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2023, ' Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. Methods: We performed a genome
Autor:
Menachem Viktor Khamo Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard, Yeasmeen Ali, Søren Tvorup Christensen, Karen Brøndum-Nielsen, Kjeld Møllgård, Thomas Rosenberg, Lars Allan Larsen, Karen Grønskov
Alexander Disease is a rare leukodystrophy caused by gain-of-function variants in the gene encoding Glial Fibrillary Acidic Protein (GFAP), a major constituent of the intermediate filament of Astrocytes within the central nervous system. Currently, n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4817deea9771e28fa67fc6f3bbc37808
https://doi.org/10.1101/2022.11.09.22282105
https://doi.org/10.1101/2022.11.09.22282105
Publikováno v:
Annual Review of Biomedical Data Science. 3:391-410
The increasing amounts of healthcare data stored in health registries, in combination with genomic and other types of data, have the potential to enable better decision making and pave the path for personalized medicine. However, reaping the full ben
Autor:
Morten Duno, Simran Kaur, Meral Topçu, Mette Rokkjaer, Karen Brøndum-Nielsen, Christalena Sofokleous, Lars Kjærsgaard Hansen, Zeynep Tümer, Nicole J Van Bergen, Eirini Tsoutsou, John Christodoulou, Martin Jakob Larsen, Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kristina Pilekær Sørensen, Christina Fagerberg, Cathrine Jespersgaard
Publikováno v:
Schönewolf-Greulich, B, Bisgaard, A-M, Dunø, M, Jespersgaard, C, Rokkjaer, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Schönewolf-Greulich, B, Bisgaard, A M, Dunø, M, Jespersgaard, C, Rokkjær, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Schönewolf-Greulich, B, Bisgaard, A M, Dunø, M, Jespersgaard, C, Rokkjær, M, Hansen, L K, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, Van Bergen, N J, Brøndum-Nielsen, K, Larsen, M J, Sørensen, K P, Christodoulou, J, Fagerberg, C R & Tümer, Z 2019, ' Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements ', Clinical Genetics, vol. 95, no. 3, pp. 403-408 . https://doi.org/10.1111/cge.13473
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have e
Autor:
Farah Arif, Hanne Jensen, Lisbeth Birk Møller, Mingyan Fang, Helene Gellert‐Kristensen, Karen Brøndum-Nielsen, Cathrine Jespersgaard, Thomas Rosenberg, Karen Grønskov, Zeynep Tümer, Mette Bertelsen
Publikováno v:
Genes
Volume 11
Issue 12
Genes, Vol 11, Iss 1517, p 1517 (2020)
Jespersgaard, C, Bertelsen, M, Arif, F, Gellert-Kristensen, H G, Fang, M, Jensen, H, Rosenberg, T, Tümer, Z, Møller, L B, Brøndum-Nielsen, K & Grønskov, K 2020, ' Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa ', Genes, vol. 11, no. 12, 1517 . https://doi.org/10.3390/genes11121517
Volume 11
Issue 12
Genes, Vol 11, Iss 1517, p 1517 (2020)
Jespersgaard, C, Bertelsen, M, Arif, F, Gellert-Kristensen, H G, Fang, M, Jensen, H, Rosenberg, T, Tümer, Z, Møller, L B, Brøndum-Nielsen, K & Grønskov, K 2020, ' Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa ', Genes, vol. 11, no. 12, 1517 . https://doi.org/10.3390/genes11121517
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important
Autor:
Cathrine, Jespersgaard, Mette, Bertelsen, Farah, Arif, Helene Gry, Gellert-Kristensen, Mingyan, Fang, Hanne, Jensen, Thomas, Rosenberg, Zeynep, Tümer, Lisbeth Birk, Møller, Karen, Brøndum-Nielsen, Karen, Grønskov
Publikováno v:
Genes
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important