检索结果 - Sigrid M.A. Swagemakers

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  1. 1
    Marked Reduction of AKT1 Expression and Deregulation of AKT1-Associated Pathways in Peripheral Blood Mononuclear Cells of Schizophrenia Patients

    Marked Reduction of AKT1 Expression and Deregulation of AKT1-Associated Pathways in Peripheral Blood Mononuclear Cells of Schizophrenia Patients 由 Nico J.M. van Beveren, Gabriëlle H.S. Buitendijk, Sigrid M.A. Swagemakers, Lianne C. Krab, Christian Röder, Lieuwe de Haan, Peter J. van der Spek, Ype Elgersma

    出版 2012
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  2. 2
    SOX2 redirects the developmental fate of the intestinal epithelium toward a premature gastric phenotype

    SOX2 redirects the developmental fate of the intestinal epithelium toward a premature gastric phenotype 由 Lalini Raghoebir, Elvira R. M. Bakker, Jason C. Mills, Sigrid M.A. Swagemakers, Marjon Buscop‐van Kempen, Anne Boerema‐de Munck, Siska Driegen, Dies Meijer, Frank Grosveld, Dick Tibboel, Ron Smits, Robbert J. Rottier

    出版 2012
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  3. 3
    Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

    Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing 由 Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham, Sigrid M.A. Swagemakers, Peter J. van der Spek

    出版 2022
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  4. 4
    An Autoimmune Phenotype in Vulvar Lichen Sclerosus and Lichen Planus: A Th1 Response and High Levels of MicroRNA-155

    An Autoimmune Phenotype in Vulvar Lichen Sclerosus and Lichen Planus: A Th1 Response and High Levels of MicroRNA-155 由 Annelinde Terlou, Lindy A.M. Santegoets, W I van der Meijden, Claudia Heijmans‐Antonissen, Sigrid M.A. Swagemakers, Peter J. van der Spek, Patricia C. Ewing, Marc van Beurden, Theo J.M. Helmerhorst, Leen J. Blok

    出版 2011
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  5. 5
    Different DNA damage and cell cycle checkpoint control in low‐ and high‐risk human papillomavirus infections of the vulva

    Different DNA damage and cell cycle checkpoint control in low‐ and high‐risk human papillomavirus infections of the vulva 由 Lindy A.M. Santegoets, Romy van Baars, Annelinde Terlou, Claudia Heijmans‐Antonissen, Sigrid M.A. Swagemakers, Peter J. van der Spek, Patricia C. Ewing, Marc van Beurden, W I van der Meijden, Theo J.M. Helmerhorst, Leen J. Blok

    出版 2011
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  6. 6
    New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B‐cell precursor acute lymphoblastic leukaemia

    New cellular markers at diagnosis are associated with isolated central nervous system relapse in paediatric B‐cell precursor acute lymphoblastic leukaemia 由 Vincent H. J. van der Velden, Daphne de Launaij, Jeltje F. de Vries, Valérie de Haas, Edwin Sonneveld, Jane S. A. Voerman, Maaike de Bie, Tamás Révész, Smadar Avigad, Allen Eng Juh Yeoh, Sigrid M.A. Swagemakers, Cornelia Eckert, Rob Pieters, Jacques J. M. van Dongen

    出版 2015
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  7. 7
    A germline STAT6 gain-of-function variant is associated with early-onset allergies

    A germline STAT6 gain-of-function variant is associated with early-onset allergies 由 Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Nipan Israsena, Praewphan Ingrungruanglert, Virgil A. S. H. Dalm, Paul Van Daele, Anapat Sanpavat, Nataruks Chaijitraruch, Benjamin Schrijver, Supranee Buranapraditkun, Thantrira Porntaveetus, Sigrid M.A. Swagemakers, Hanna IJspeert, Tanapat Palaga, Kanya Suphapeetiporn, Peter J. van der Spek, Nattiya Hirankarn, Pantipa Chatchatee, P. Martin van Hagen, Vorasuk Shotelersuk

    出版 2022
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  8. 8
    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability 由 Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos, Ivy C A Richardson, A. Jeannette M. Hoogeboom, Ans M.W. van den Ouweland, Sigrid M.A. Swagemakers, Maarten H. Lequin, Daniel Van Antwerp, Simon J. McGowan, Isabelle Westbury, Kerry A. Miller, Steven A. Wall, Peter J. van der Spek, Irene M.J. Mathijssen, Erwin Pauws, Christa Merzdorf, Andrew O.M. Wilkie

    出版 2015
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  9. 9
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation 由 Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    出版 2020
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  10. 10
    Diagnostic value of exome and whole genome sequencing in craniosynostosis

    Diagnostic value of exome and whole genome sequencing in craniosynostosis 由 Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M.A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie

    出版 2016
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  11. 11
    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations

    <i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations 由 Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan F. Rohé, Jolien W. Roos‐Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies‐Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido J. Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke J.M.H. Verkerk, Sigrid M.A. Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koenraad Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli‐Avella

    出版 2012
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  12. 12
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder 由 Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    出版 2019
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  13. 13
    A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

    A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 由 Abbas M Solouki, Virginie J. M. Verhoeven, Cornelia M. van Duijn, Annemieke J.M.H. Verkerk, M. Kamran Ikram, Pirro G. Hysi, Dominiek D. G. Despriet, L. M. van Koolwijk, Lintje Ho, Wishal D. Ramdas, Monika A. Czudowska, Robert W. A. M. Kuijpers, Najaf Amin, Maksim Struchalin, Yurii S. Aulchenko, Gabriël van Rij, Frans C. C. Riemslag, Terri L. Young, David A. Mackey, Timothy D. Spector, Theo G. M. F. Gorgels, Jacqueline J M Willemse-Assink, Aaron Isaacs, R. Kramer, Sigrid M.A. Swagemakers, Arthur A. Bergen, Andy A L J van Oosterhout, Ben A. Oostra, Fernando Rivadeneira, André G. Uitterlinden, Albert Hofman, Paulus T.V.M. de Jong, Christopher J. Hammond, Johannes R. Vingerling, Caroline C. W. Klaver

    出版 2010
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  14. 14
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder 由 Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    出版 2018
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