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There are 8227 results for: content related to: Ciliary disorder of the skeleton

  1. Function and regulation of primary cilia and intraflagellar transport proteins in the skeleton

    Annals of the New York Academy of Sciences

    Volume 1335, Issue 1, January 2015, Pages: 78–99, Xue Yuan, Rosa A. Serra and Shuying Yang

    Version of Record online : 24 JUN 2014, DOI: 10.1111/nyas.12463

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    Making sense of cilia in disease: The human ciliopathies

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 151C, Issue 4, 15 November 2009, Pages: 281–295, Kate Baker and Philip L. Beales

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  3. Unmasking the ciliopathies: craniofacial defects and the primary cilium

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 6, November/December 2015, Pages: 637–653, Claudio R. Cortés, Vicki Metzis and Carol Wicking

    Version of Record online : 14 JUL 2015, DOI: 10.1002/wdev.199

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    Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 151C, Issue 4, 15 November 2009, Pages: 263–280, Magdalena Cardenas-Rodriguez and Jose L. Badano

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30227

  5. Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 151C, Issue 4, 15 November 2009, Pages: 341–351, Victor L. Ruiz-Perez and Judith A. Goodship

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30226

  6. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

    Clinical Genetics

    N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, University of Washington Center for Mendelian Genomics, M. Bamshad, D. Nickerson, D. H. Cohn and D. Krakow

    Version of Record online : 13 MAR 2017, DOI: 10.1111/cge.12947

  7. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  8. Primary cilia and graded Sonic Hedgehog signaling

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 1, Issue 5, September/October 2012, Pages: 753–772, Noriaki Sasai and James Briscoe

    Version of Record online : 4 APR 2012, DOI: 10.1002/wdev.43

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    Intraflagellar transport, cilia, and mammalian Hedgehog signaling: Analysis in mouse embryonic fibroblasts

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 2030–2038, Polloneal Jymmiel R. Ocbina and Kathryn V. Anderson

    Version of Record online : 19 MAY 2008, DOI: 10.1002/dvdy.21551

  10. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1411–1419, A.M. Lehman, P. Eydoux, D. Doherty, I.A. Glass, D. Chitayat, B.Y.H. Chung, S. Langlois, S.L. Yong, R.B. Lowry, F. Hildebrandt and P. Trnka

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33416

  11. G-protein-coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 103, Issue 1, January 2015, Pages: 12–19, Sun-Hee Hwang and Saikat Mukhopadhyay

    Version of Record online : 11 JUN 2014, DOI: 10.1002/bdra.23267

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    Assembly of primary cilia

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 1993–2006, Lotte B. Pedersen, Iben R. Veland, Jacob M. Schrøder and Søren T. Christensen

    Version of Record online : 4 APR 2008, DOI: 10.1002/dvdy.21521

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    Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 714–724, Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Natalia Di Donato, Theresa Neuhann, Jane L. Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco-Antić, Christoph Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć-Šćekić, Jelena Dobricic, Mirjana Brankovic-Magic, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter J. Scambler, Sophie Saunier, Hannah M. Mitchison and Carsten Bergmann

    Version of Record online : 11 APR 2013, DOI: 10.1002/humu.22294

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    Role of Intraflagellar Transport and Primary Cilia in Skeletal Development

    The Anatomical Record

    Volume 291, Issue 9, September 2008, Pages: 1049–1061, Rosa Serra

    Version of Record online : 25 AUG 2008, DOI: 10.1002/ar.20634

  15. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

    American Journal of Medical Genetics Part A

    Volume 155, Issue 5, May 2011, Pages: 1021–1032, Kim M. Keppler-Noreuil, Margaret P. Adam, Judy Welch, Ann Muilenburg and Marcia C. Willing

    Version of Record online : 4 APR 2011, DOI: 10.1002/ajmg.a.33892

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    Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype

    Congenital Anomalies

    Volume 55, Issue 3, August 2015, Pages: 155–157, Toshio Okamoto, Ken Nagaya, Yumi Kawata, Hiroko Asai, Etsushi Tsuchida, Fumikatsu Nohara, Kazuki Okajima and Hiroshi Azuma

    Version of Record online : 26 JUL 2015, DOI: 10.1111/cga.12098

  17. You have full text access to this OnlineOpen article
    Intraflagellar transport: mechanisms of motor action, cooperation, and cargo delivery

    The FEBS Journal

    Bram Prevo, Jonathan M. Scholey and Erwin J. G. Peterman

    Version of Record online : 18 APR 2017, DOI: 10.1111/febs.14068

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    Expression of the Ellis-van Creveld (Evc) gene in the rat tibial growth plate

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 279A, Issue 2, August 2004, Pages: 729–736, Takehito Tsuji, Hiroaki Nakamura, Azumi Hirata and Toshio Yamamoto

    Version of Record online : 23 JUN 2004, DOI: 10.1002/ar.a.20059

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    CNS myelination requires cytoplasmic dynein function

    Developmental Dynamics

    Volume 244, Issue 2, February 2015, Pages: 134–145, Michele L. Yang, Jimann Shin, Christina A. Kearns, Melissa M. Langworthy, Heather Snell, Macie B. Walker and Bruce Appel

    Version of Record online : 16 JAN 2015, DOI: 10.1002/dvdy.24238

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    The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 1960–1971, Jonathan M. Lehman, Edward J. Michaud, Trenton R. Schoeb, Yesim Aydin-Son, Michael Miller and Bradley K. Yoder

    Version of Record online : 25 MAR 2008, DOI: 10.1002/dvdy.21515