检索结果 - Heleen H. Arts

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  1. 1
    Current insights into renal ciliopathies: what can genetics teach us?

    Current insights into renal ciliopathies: what can genetics teach us? 由 Heleen H. Arts, Nine Knoers

    出版 2012
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  2. 2
    Scrutinizing ciliopathies by unraveling ciliary interaction networks

    Scrutinizing ciliopathies by unraveling ciliary interaction networks 由 Jeroen van Reeuwijk, Heleen H. Arts, Ronald Roepman

    出版 2011
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  3. 3
    Ciliopathies: Genetics in Pediatric Medicine

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

    出版 2016
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  4. 4
    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

    Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations 由 Ronald Roepman, Stef J.F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P.M. Cremers

    出版 2005
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  5. 5
    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome 由 Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner

    出版 2010
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  6. 6
    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

    A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis 由 Patrick Frosk, Heleen H. Arts, Julien Philippe, Carter S Gunn, Emma Brown, Bernard Chodirker, Louise R. Simard, Jacek Majewski, Somayyeh Fahiminiya, Chad Russell, Yangfan P. Liu, Robert A. Hegele, Nicholas Katsanis, Conrad Goerz, Marc R. Del Bigio, Erica E. Davis

    出版 2017
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  7. 7
    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome 由 Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Marlies Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw, Valérie Cormier‐Daire, Han G. Brunner, Nine V.A.M. Knoers, Ronald Roepman

    出版 2011
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  8. 8
    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking 由 Ruxandra Bachmann‐Gagescu, Margo Dona, Lisette Hetterschijt, E.L.G.M. Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E.E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk

    出版 2015
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  9. 9
    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 由 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

    出版 2016
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  10. 10
    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 由 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

    出版 2011
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  11. 11
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations 由 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

    出版 2012
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  12. 12
    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy 由 Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh van den Born, Stanley Lambertus, Heleen H. Arts, Theo Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers, Karsten Boldt, Elfride De Baere, Caroline C. W. Klaver, Frauke Coppieters, David A. Koolen, Dorien Lugtenberg, Kornelia Neveling, Jeroen van Reeuwijk, Marius Ueffing, Sylvia E. C. van Beersum, Marijke N. Zonneveld-Vrieling

    出版 2014
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  13. 13
    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 由 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

    出版 2013
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  14. 14
    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 由 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

    出版 2013
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  15. 15
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome 由 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

    出版 2017
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  16. 16
    CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

    CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 由 Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L. M. Coene, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman Alswaid, Hamìt Özyürek, Sel Dibooĝlu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael O. Dorschner, Meral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Nicholas Katsanis, John B. Vincent, Friedhelm Hildebrandt, Edwin W. Rubel, David W. Raible, Nine V.A.M. Knoers, Phillip F. Chance, Ronald Roepman, Cecilia B. Moens, Ian Glass, Dan Doherty

    出版 2008
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  17. 17
    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 由 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

    出版 2012
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  18. 18
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 由 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

    出版 2016
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