Search Results - Thomas Eggermann

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  1. 1

    Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges by Dirk Prawitt, Thomas Eggermann

    Published in Frontiers in Genetics (2024-06-01)
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  2. 2

    11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? by Asmaa K. Amin, Jeremias Krause, Thomas Eggermann

    Published in Molecular Cytogenetics (2024-03-01)
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  3. 3

    First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions by Elia Schlaich, Wouter H. G. Hubens, Thomas Eggermann

    Published in Molecular Genetics & Genomic Medicine (2023-12-01)
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  4. 4

    The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders by Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting

    Published in Epigenetics (2018-08-01)
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  5. 5

    CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants by Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, Ingo Kurth, Matthias Begemann, Florian Kraft

    Published in BMC Bioinformatics (2024-12-01)
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  6. 6

    Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype by Matthias Begemann, Anna Lengyel, Eva Pinti, Árpád Ferenc Kovács, György Fekete, Svea Stratmann, Jeremias Krause, Miriam Elbracht, Florian Kraft, Thomas Eggermann

    Published in Clinical Epigenetics (2025-04-01)
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  7. 7

    Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives by Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Thomas Eggermann

    Published in Endocrine Connections (2022-10-01)
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  8. 8

    Corrigendum to “Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals” [NeuroImage volume 49 (2010) 1831-1836] by Axel Krug, Vanessa Nieratschker, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, N. Jon Shah, Jens Treutlein, Thomas W. Mühleisen, Tilo Kircher

    Published in NeuroImage (2024-08-01)
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  9. 9

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

    Published in Orphanet Journal of Rare Diseases (2021-01-01)
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  10. 10

    Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) by Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN

    Published in Orphanet Journal of Rare Diseases (2020-06-01)
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  11. 11

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Published in Clinical Epigenetics (2024-08-01)
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  12. 12

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Published in npj Genomic Medicine (2024-03-01)
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  13. 13

    Systematic assessment of COVID-19 host genetics using whole genome sequencing data. by Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, DeCOI host genetics group, T Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V Schmidt, Philipp Schommers, Christoph D Spinner, Maria J G T Vehreschild, Thirumalaisamy P Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J Brent Richards, DeCOI, André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L Schultze, Peter Nürnberg, Markus M Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C Schulte, Kerstin U Ludwig

    Published in PLoS Pathogens (2024-12-01)
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