Resultats de la cerca - Alexander P.A. Stegmann

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  1. 1
    Distinct Roles of the Phosphatidylinositol 3-Kinase and STAT5 Pathways in IL-7-Mediated Development of Human Thymocyte Precursors

    Distinct Roles of the Phosphatidylinositol 3-Kinase and STAT5 Pathways in IL-7-Mediated Development of Human Thymocyte Precursors per C. Pallard, Alexander P.A. Stegmann, Titia van Kleffens, Fiona M. Smart, Ashok R. Venkitaraman, Hergen Spits

    Publicat 1999
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  2. 2
    Inhibition of T Cell and Promotion of Natural Killer Cell Development by the Dominant Negative Helix Loop Helix Factor Id3

    Inhibition of T Cell and Promotion of Natural Killer Cell Development by the Dominant Negative Helix Loop Helix Factor Id3 per Mirjam H.M. Heemskerk, Bianca Blom, Garry P. Nolan, Alexander P.A. Stegmann, Arjen Q. Bakker, Kees Weijer, Pieter C.M., Hergen Spits

    Publicat 1997
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  3. 3
    Interleukin 2 mediates stimulation of complement C3 biosynthesis in human proximal tubular epithelial cells.

    Interleukin 2 mediates stimulation of complement C3 biosynthesis in human proximal tubular epithelial cells. per Ricardo A. Brooimans, Alexander P.A. Stegmann, W T van Dorp, A A van der Ark, Fokko J. van der Woude, Leendert A. van Es, Mohamed R. Daha

    Publicat 1991
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  4. 4
    Disruption of αβ but not of γδ T cell development by overexpression of the helix–loop–helix protein Id3 in committed T cell progenitors

    Disruption of αβ but not of γδ T cell development by overexpression of the helix–loop–helix protein Id3 in committed T cell progenitors per Bianca Blom, Mirjam H.M. Heemskerk, Martie C. M. Verschuren, Jacques J. M. van Dongen, Alexander P.A. Stegmann, Arjen Q. Bakker, Franka Couwenberg, Pieter C.M., Hergen Spits

    Publicat 1999
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  5. 5
    Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

    Defective NDUFA9 as a novel cause of neonatally fatal complex I disease per B.J.C. van den Bosch, Mike Gerards, Wim J. Sluiter, Alexander P.A. Stegmann, Eveline Jongen, Debby M.E.I. Hellebrekers, Renske Oegema, Ellen Lambrichs, Holger Prokisch, Katharina Danhauser, Kees Schoonderwoerd, I.F.M. de Coo, Hubert J.M. Smeets

    Publicat 2011
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  6. 6
    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice per Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, Helger G. Yntema, Masoud Zamani Esteki, Christine de Die‐Smulders, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Aimée Paulussen

    Publicat 2021
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  7. 7
    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder per Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer

    Publicat 2017
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  8. 8
    Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

    Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability per Francesca M. Snoeijen‐Schouwenaars, Jans S. van Ool, Judith Verhoeven, Petra van Mierlo, Hilde M. H. Braakman, Eric Smeets, Joost Nicolai, Jeroen Schoots, Mariël W.A. Teunissen, Rob P.W. Rouhl, Francis Tan, Helger G. Yntema, Han G. Brunner, Rolph Pfundt, Alexander P.A. Stegmann, Erik‐Jan Kamsteeg, Helenius J. Schelhaas, Marjolein H. Willemsen

    Publicat 2018
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  9. 9
    Viral load, gene expression and mapping of viral integration sites in HPV16‐associated HNSCC cell lines

    Viral load, gene expression and mapping of viral integration sites in HPV16‐associated HNSCC cell lines per Nadine C. Olthof, Christian U. Huebbers, Jutta Kolligs, Mieke E.R. Henfling, Frans C. S. Ramaekers, Iris Cornet, Josefa A. van Lent‐Albrechts, Alexander P.A. Stegmann, Steffi Silling, Ulrike Wieland, Thomas E. Carey, Heather M. Walline, Susanne M. Gollin, Thomas K. Hoffmann, Johan de Winter, Bernd Kremer, Jens Peter Klußmann, Ernst‐Jan M. Speel

    Publicat 2014
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  10. 10
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders per Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Publicat 2016
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  11. 11
    Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

    Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability per Margot R.F. Reijnders, Maria Kousi, Geeske M. van Woerden, Marieke Klein, Janita Bralten, Grazia M.S. Mancini, Ton van Essen, Martina Proietti Onori, Eric Smeets, M. van Gastel, Alexander P.A. Stegmann, Servi J.C. Stevens, Stefan H. Lelieveld, Christian Gilissen, Rolph Pfundt, Perciliz L. Tan, Tjitske Kleefstra, Barbara Franke, Ype Elgersma, Nicholas Katsanis, Han G. Brunner

    Publicat 2017
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  12. 12
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... per Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Publicat 2017
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  13. 13
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects per Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    Publicat 2018
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  14. 14
    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability per Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen

    Publicat 2016
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  15. 15
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila per Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Publicat 2017
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  16. 16
    MLL2 mutation spectrum in 45 patients with Kabuki syndrome

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome per Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

    Publicat 2010
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  17. 17
    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype per Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen, Valérie Cormier‐Daire, Gunnar Houge, Nicki Foulds, Marieke van Dooren, Marjolein H. Willemsen, Rolph Pfundt, Anne‐Marie W. Turner, Meredith Wilson, Julie McGaughran, Anita Rauch, Martin Zenker, Margaret P Adam, A. Micheil Innes, C. Davies, Antonio González-Meneses López, Rosario Casalone, Astrid Weber, L A Brueton, Alain Navarro, María Palomares‐Bralo, Hanka Venselaar, Alexander P.A. Stegmann, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner

    Publicat 2009
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  18. 18
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders per Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Publicat 2022
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  19. 19
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies per Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Publicat 2019
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  20. 20
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation per Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    Publicat 2016
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