Search Results - Machteld M. Oud

  • Showing 1 - 13 results of 13
Refine Results
  1. 1
    Ciliopathies: Genetics in Pediatric Medicine

    Ciliopathies: Genetics in Pediatric Medicine by Machteld M. Oud, Ideke J.C. Lamers, Heleen H. Arts

    Published 2016
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes

    Geometry sensing by dendritic cells dictates spatial organization and PGE2-induced dissolution of podosomes by Koen van den Dries, Suzanne F. G. van Helden, Joost te Riet, Ruth Diez‐Ahedo, Carlo Manzo, Machteld M. Oud, Frank N. van Leeuwen, Roland Brock, M.F. Garcia Parajo, Alessandra Cambi, Carl G. Figdor

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome by Machteld M. Oud, Carine Bonnard, Dorus A. Mans, Umut Altunoğlu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C. Anthony Rupar, Nathalie P. de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J. Pazour, Stanley F. Nelson, Robert A. Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria Mok Siu, Bruno Reversade, Heleen H. Arts

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine Leh, Marit Midtbø, Emilie Filhol, Christine Bôle‐Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan‐Stephan Sanders, Irene Stolte‐Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Marc Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine Knoers, Ronald Roepman, Heleen H. Arts

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations by Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

    How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques by Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L. M. Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, Alexander Hoischen, Mirjam Langeveld, Dirk J. Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard J. Rodenburg, Hans R. Waterham, Ron A. Wevers, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen, Nicole I. Wolf, Lisenka E.L.M. Vissers, Clara van Karnebeek

    Published 2022
    Get full text
    Revisão
    Save to List
    Saved in:
  7. 7
    Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

    Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy by Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, Claudio R. Cortés, Aideen M. McInerney‐Leo, Richard D. Emes, Heleen H. Arts, Beyhan Tüysüz, Jason K. D’Silva, Paul Leo, Tom Giles, Machteld M. Oud, Jessica Harris, Marion Koopmans, Mhairi Marshall, Nursel Elçioğlu, Alma Kuechler, Detlef Böckenhauer, Anthony T. Moore, Louise C. Wilson, Andreas Janecke, Matthew E. Hurles, Warren Emmet, Brooke Gardiner, Berthold Streubel, Belinda Dopita, Andreas Zankl, Hülya Kayserili, Peter Scambler, Matthew A. Brown, Philip L. Beales, Carol Wicking, Emma L. Duncan, Hannah M. Mitchison

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Exome sequencing identifies<i>DYNC2H1</i>mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

    Exome sequencing identifies<i>DYNC2H1</i>mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement by Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers, Zhimin Yap, Machteld M. Oud, Dinu Antony, Lonneke Duijkers, Richard D. Emes, Jim Stalker, J.L. Yntema, Vincent Plagnol, Alexander Hoischen, Christian Gilissen, Elisabeth Forsythe, Ekkehart Lausch, Joris A. Veltman, Nel Roeleveld, Andrea Superti‐Furga, Anna Kutkowska‐Kaźmierczak, Erik‐Jan Kamsteeg, Nursel Elçioğlu, Merel C. van Maarle, Luitgard Graul‐Neumann, Koenraad Devriendt, Sarah Smithson, Diana Wellesley, Nienke E. Verbeek, Raoul C. M. Hennekam, Hülya Kayserili, Peter Scambler, Philip L. Beales, Nine Knoers, Ronald Roepman, Hannah M. Mitchison

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome by Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Mariëlle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J. A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim M. Strom, Hartmut Engels, Hywel Williams, Phil Beales, Ronald Roepman, Patrícia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine M Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza‐Londono, E. Graham Davies, Sérgio B. Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    CiliaCarta: An integrated and validated compendium of ciliary genes

    CiliaCarta: An integrated and validated compendium of ciliary genes by Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan Frederik Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymańska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T. Nguyen, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, Miriam Schmidts, Philip L. Beales, Qianhao Lu, Rachel H. Giles, Radek Szklarczyk, Robert B. Russell, Toby J. Gibson, Colin A. Johnson, Oliver E. Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Víctor Hernández-Hernández, Martijn A. Huynen

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

    Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling by Moumita Chaki, Rannar Airik, Amiya K. Ghosh, Rachel H. Giles, Rui Chen, Gisela G. Slaats, Hui Wang, Toby W. Hurd, Weibin Zhou, Andrew Cluckey, Heon Yung Gee, Gokul Ramaswami, Chen‐Jei Hong, Bruce A. Hamilton, Igor Červenka, Ranjani Sri Ganji, Vı́tězslav Bryja, Heleen H. Arts, Jeroen van Reeuwijk, Machteld M. Oud, Stef J.F. Letteboer, Ronald Roepman, Hervé Husson, Oxana Ibraghimov‐Beskrovnaya, Takayuki Yasunaga, Gerd Walz, Lorraine Eley, John A. Sayer, Bernhard Schermer, Max C. Liebau, Thomas Benzing, Stéphanie Le Corre, Iain A. Drummond, Sabine Janssen, Susan J. Allen, S. Natarajan, John F. O’Toole, Massimo Attanasio, Sophie Saunier, Corinne Antignac, Robert K. Koenekoop, Huanan Ren, Irma López, Ahmet Nayır, Corinne Stoetzel, Hélène Dollfus, Rustin Massoudi, Joseph G. Gleeson, Sharon Andreoli, D Doherty, Anna Lindstrad, Christelle Golzio, Nicholas Katsanis, Lars Pape, Emad B. Abboud, Ali A. Al‐Rajhi, Richard A. Lewis, Heymut Omran, Eva Y.-H.P. Lee, Shaohui Wang, JoAnn Sekiguchi, Rudel A. Saunders, Colin A. Johnson, Elizabeth Garner, Katja Vanselow, Jens Andersen, Joseph Shlomai, Gudrun Nürnberg, Peter Nürnberg, Shawn Levy, Agata Smogorzewska, Edgar A. Otto, Friedhelm Hildebrandt

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay by Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    Published 2020
    Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: