Search Results - Stefan Böhringer

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  1. 1
    Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum

    Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum by Sven Fischer, Hermann‐Josef Lüdecke, Dagmar Wieczorek, Stefan Böhringer, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke

    Published 2006
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  2. 2
    Automated segmentation of the corneal endothelium in a large set of ‘real-world’ specular microscopy images using the U-Net architecture

    Automated segmentation of the corneal endothelium in a large set of ‘real-world’ specular microscopy images using the U-Net architecture by Moritz Claudius Daniel, Lisa Atzrodt, Felicitas Bucher, Katrin Wacker, Stefan Böhringer, Thomas Reinhard, Daniel Böhringer

    Published 2019
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  3. 3
    The effect of a face mask for respiratory support on breathing in preterm infants at birth

    The effect of a face mask for respiratory support on breathing in preterm infants at birth by Kristel L. A. M. Kuypers, Tereza Lamberská, Tessa Martherus, Janneke Dekker, Stefan Böhringer, Stuart B. Hooper, Richard Plavka, Arjan B. te Pas

    Published 2019
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  4. 4
    AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype

    AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype by Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, Ioannis Moustakas, Thilo M. Buck, Christian Freund, Christiaan H. Arendzen, Stefan Böhringer, Camiel J. F. Boon, Hailiang Mei, Jan Wijnholds

    Published 2023
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  5. 5
    The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

    The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status by Mehmet Doğrusöz, Mette Bagger, Sjoerd G. van Duinen, Wilma G. M. Kroes, Claudia Ruivenkamp, Stefan Böhringer, Klaus Kaae Andersen, Gregorius P. M. Luyten, Jens Folke Kiilgaard, Martine J. Jager

    Published 2017
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  6. 6
    Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism

    Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism by Mark J. de Lange, Lubna Razzaq, Mieke Versluis, Sven Verlinde, Mehmet Doğrusöz, Stefan Böhringer, Marina Marinkovic, Gregorius P. M. Luyten, R. J. W. De Keizer, Frank R. de Gruijl, Martine J. Jager, Pieter A. van der Velden

    Published 2015
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  7. 7
    Tamoxifen Pharmacogenetics and Metabolism: Results From the Prospective CYPTAM Study

    Tamoxifen Pharmacogenetics and Metabolism: Results From the Prospective CYPTAM Study by Anabel Sanchez‐Spitman, Vincent O. Dezentjé, Jesse J. Swen, Dirk Jan A. R. Moes, Stefan Böhringer, Erdogan Batman, Edith van Druten, Carolien H. Smorenburg, Aart van Bochove, Anneke M. Zeillemaker, Lynn Jongen, Maartje Los, Patrick Neven, Hans Gelderblom, Henk‐Jan Guchelaar

    Published 2019
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  8. 8
    Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis

    Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis by Leendert A. Trouw, Nina Daha, Fina Kurreeman, Stefan Böhringer, George N. Goulielmos, Harm-Jan Westra, Alexandra Zhernakova, Lude Franke, Erich Stahl, E. W. Nivine Levarht, Gerrie Stoeken‐Rijsbergen, Willem Verduijn, A. Roos, Yonghong Li, Jeanine J. Houwing‐Duistermaat, T. Huizinga, René E. M. Toes

    Published 2013
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  9. 9
    Prognostic Factors Five Years After Enucleation for Uveal Melanoma

    Prognostic Factors Five Years After Enucleation for Uveal Melanoma by Mehmet Doğrusöz, Niels J. Brouwer, Stefan J. R. de Geus, Long V. Ly, Stefan Böhringer, Sjoerd G. van Duinen, Wilma G. M. Kroes, Pieter A. van der Velden, Geert W. Haasnoot, Marina Marinkovic, Gregorius P. M. Luyten, Tero Kivelä, Martine J. Jager

    Published 2020
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  10. 10
    Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways

    Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways by Joris Deelen, Hae‐Won Uh, Ramin Monajemi, Alan B. Zonderman, Peter Thijssen, Stefan Böhringer, Erik B. van den Akker, Anton J. M. de Craen, Fernando Rivadeneira, André G. Uitterlinden, Rudi G. J. Westendorp, Jelle J. Goeman, P. Eline Slagboom, Jeanine J. Houwing‐Duistermaat, Marian Beekman

    Published 2011
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  11. 11
    Literature-Based Genetic Risk Scores for Coronary Heart Disease

    Literature-Based Genetic Risk Scores for Coronary Heart Disease by Anika A. M. Vaarhorst, Yingchang Lu, Bastiaan T. Heijmans, Martijn E.T. Dollé, Stefan Böhringer, Hein Putter, Sandra Imholz, Audrey H. H. Merry, Marleen M. J. van Greevenbroek, J. Wouter Jukema, Anton P.M. Gorgels, Piet A. van den Brandt, Michael Müller, Leo J. Schouten, Edith J. M. Feskens, Jolanda M.A. Boer, P. Eline Slagboom

    Published 2012
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  12. 12
    Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants

    Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants by J.C. van den Bergen, Monika Hiller, Stefan Böhringer, Linda Vijfhuizen, Hendrika B. Ginjaar, Amina Chaouch, Kate Bushby, Volker Straub, Mariacristina Scoto, Sebahattin Çirak, Véronique Humbertclaude, Mireille Claustres, C. Scotton, Chiara Passarelli, Hanns Lochmüller, Francesco Muntoni, Sylvie Tuffery‐Giraud, Alessandra Ferlini, Annemieke Aartsma‐Rus, Jan J.G.M. Verschuuren, Peter A.C. ‘t Hoen, Pietro Spitali

    Published 2014
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  13. 13
    Intervention with methotrexate in patients with arthralgia at risk of rheumatoid arthritis to reduce the development of persistent arthritis and its disease burden (TREAT EARLIER): a randomised, double-blind, placebo-controlled, proof-of-concept trial

    Intervention with methotrexate in patients with arthralgia at risk of rheumatoid arthritis to reduce the development of persistent arthritis and its disease burden (TREAT EARLIER):... by Doortje I Krijbolder, Marloes Verstappen, Bastiaan T van Dijk, Yousra J. Dakkak, L.E. Burgers, Aleid C. Boer, Yune Jung Park, Marianne E de Witt-Luth, Karen Visser, Marc R. Kok, Esmeralda T. H. Molenaar, Pascal H P de Jong, Stefan Böhringer, T. Huizinga, Cornelia F Allaart, Ellis Niemantsverdriet, Annette H M van der Helm–van Mil

    Published 2022
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  14. 14
    Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

    Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation by Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan‐Kirchner, Eric Haan, M. Hagedorn-Greiwe, Christof Hammans, Wolfram Henn, Georg Klaus Hinkel, Rainer König, Erdmute Kunstmann, Jürgen Kunze, Luitgard M. Neumann, Eva‐Christina Prott, Anita Rauch, Hans‐Dieter Rott, Heide Seidel, Stephanie Spranger, Martin Sprengel, Barbara Zoll, Dietmar Lohmann, Dagmar Wieczorek

    Published 2004
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  15. 15
    TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

    TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy by Pietro Spitali, Irina Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch, Andreas Roos, C. Scotton, Mireille Claustres, Luca Bello, Craig M. McDonald, Eric P. Hoffman, Zaïda Koeks, H. Eka D. Suchiman, Sebahattin Çirak, Mariacristina Scoto, Mojgan Reza, Peter A.C. ‘t Hoen, Erik H. Niks, Sylvie Tuffery‐Giraud, Hanns Lochmüller, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma‐Rus

    Published 2020
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  16. 16
    Triple Positivity for Anti–Citrullinated Protein Autoantibodies, Rheumatoid Factor, and Anti–Carbamylated Protein Antibodies Conferring High Specificity for Rheumatoid Arthritis

    Triple Positivity for Anti–Citrullinated Protein Autoantibodies, Rheumatoid Factor, and Anti–Carbamylated Protein Antibodies Conferring High Specificity for Rheumatoid Arthritis... by Marije K. Verheul, Stefan Böhringer, Myrthe A. M. van Delft, Jonathan D. G. Jones, William F. C. Rigby, Ryan W. Gan, V. Michael Holers, Jess D. Edison, Kevin D. Deane, Koen M. J. Janssen, Johanna Westra, Mikael Brink, Solbritt Rantapää‐Dahlqvist, T. Huizinga, Annette H M van der Helm–van Mil, Diane van der Woude, René E. M. Toes, Leendert A. Trouw

    Published 2018
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  17. 17
    A metabolomic profile is associated with the risk of incident coronary heart disease

    A metabolomic profile is associated with the risk of incident coronary heart disease by Anika A. M. Vaarhorst, Aswin Verhoeven, Claudia M Weller, Stefan Böhringer, Sibel Göraler, Axel Meißner, André M. Deelder, Peter Henneman, Anton P.M. Gorgels, Piet A. van den Brandt, Leo J. Schouten, Marleen M. J. van Greevenbroek, Audrey H. H. Merry, W. M. Monique Verschuren, Anouk den Braber, Ko Willems van Dijk, Aaron Isaacs, Dorret I. Boomsma, Ben A. Oostra, Cornelia M. van Duijn, J. Wouter Jukema, Jolanda M.A. Boer, Edith J. M. Feskens, Bastiaan T. Heijmans, P. Eline Slagboom

    Published 2014
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  18. 18
    Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression

    Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression by Ruben G. de Bruin, Lily Shiue, Jurriën Prins, Hetty C. de Boer, Anjana Singh, W. Samuel Fagg, Janine M. van Gils, Jacques M.G.J. Duijs, Sol Katzman, Adriaan O. Kraaijeveld, Stefan Böhringer, Wai Yi Leung, Szymon M. Kiełbasa, John P. Donahue, Hendrik J.P. van der Zande, Rick Sijbom, Carla M. A. van Alem, Ilze Bot, Cees van Kooten, J. Wouter Jukema, Hilde Van Esch, Ton J. Rabelink, Hilal Kazan, Erik A.L. Biessen, Manuel Ares, Anton Jan van Zonneveld, Eric P. van der Veer

    Published 2016
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  19. 19
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling by Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik

    Published 2013
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  20. 20
    Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

    Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels by Harmen H. M. Draisma, René Pool, Michael Kobl, Rick Jansen, Ann-Kristin Petersen, Anika A. M. Vaarhorst, İdil Yet, Toomas Haller, Ayşe Demirkan, Tõnu Esko, Gu Zhu, Stefan Böhringer, Marian Beekman, Jan B. van Klinken, Werner Römisch‐Margl, Cornelia Prehn, Jerzy Adamski, Anton J. M. de Craen, Jin‐Moo Lee, Najaf Amin, Harish Dharuri, Harm-Jan Westra, Lude Franke, Eco J. C. de Geus, Jouke‐Jan Hottenga, Gonneke Willemsen, Anjali K. Henders, Grant W. Montgomery, Dale R. Nyholt, John B. Whitfield, Brenda W.J.H. Penninx, Tim D. Spector, Andres Metspalu, P. Eline Slagboom, Ko Willems van Dijk, Peter A.C. ‘t Hoen, Konstantin Strauch, Nicholas G. Martin, Gert‐Jan B. van Ommen, Thomas Illig, Jordana T. Bell, Massimo Mangino, Karsten Suhre, Mark I. McCarthy, Christian Gieger, Aaron Isaacs, Cornelia M. van Duijn, Dorret I. Boomsma

    Published 2015
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