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There are 8216 results for: content related to: Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

  1. Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation

    Pediatric Pulmonology

    Volume 44, Issue 2, February 2009, Pages: 198–201, Tim Hall, Andrew Bush, John Fell, Amaka Offiah, Virpi Smith and Robin Abel

    Version of Record online : 9 JAN 2009, DOI: 10.1002/ppul.20960

  2. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1727–1733, Beyhan Tüysüz, Safa Barış, Figen Aksoy, Rıza Madazlı, Savaş Üngür and Lale Sever

    Version of Record online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32962

  3. Ciliary disorder of the skeleton

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

    Volume 160C, Issue 3, 15 August 2012, Pages: 165–174, Celine Huber and Valerie Cormier-Daire

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31336

  4. 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

  5. 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

  6. You have free access to this content
    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

  7. 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

  8. You have full text access to this OnlineOpen article
    Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin-binding IFT-B2 complex

    The EMBO Journal

    Volume 35, Issue 7, 1 April 2016, Pages: 773–790, Michael Taschner, Kristina Weber, André Mourão, Melanie Vetter, Mayanka Awasthi, Marc Stiegler, Sagar Bhogaraju and Esben Lorentzen

    Version of Record online : 24 FEB 2016, DOI: 10.15252/embj.201593164

  9. 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

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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

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    Bibliography

    A Companion to Contemporary French Cinema

    Alistair Fox, Michel Marie, Raphaëlle Moine, Hilary Radner, Pages: 631–654, 2014

    Published Online : 5 DEC 2014, DOI: 10.1002/9781118585405.biblio

  12. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

  13. DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy

    The Clinical Respiratory Journal

    Nagehan Emiralioglu, Julia Wallmeier, Heike Olbrich, Heymut Omran and Ugur Ozcelik

    Version of Record online : 12 MAR 2017, DOI: 10.1111/crj.12620

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    Motile and non-motile cilia in human pathology: from function to phenotypes

    The Journal of Pathology

    Volume 241, Issue 2, January 2017, Pages: 294–309, Hannah M Mitchison and Enza Maria Valente

    Version of Record online : 19 DEC 2016, DOI: 10.1002/path.4843

    Corrected by:

    Corrigendum: ‘Motile and non-motile cilia in human pathology: from function to phenotypes’

    Vol. 241, Issue 4, 564, Version of Record online: 17 FEB 2017

  15. Cilia and Human Disease

    Standard Article

    eLS

    Alison J Albee and Susan K Dutcher

    Published Online : 16 JUL 2012, DOI: 10.1002/9780470015902.a0022544

  16. Direct hyperbilirubinemia and hepatic fibrosis: A new presentation of Jeune syndrome (asphyxiating thoracic dystrophy)

    American Journal of Medical Genetics

    Volume 28, Issue S3, 1987, Pages: 211–220, Dr. Chester B. Whitley, Sarah Jane Schwarzenberg, Barbara A. Burke, Deborah K. Freese, Robert J. Gorlin, John M. Opitz and Jay Bernstein

    Version of Record online : 4 JUN 2005, DOI: 10.1002/ajmg.1320280525

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    Liver and kidney disease in ciliopathies

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 296–306, Meral Gunay-Aygun

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30225

  18. Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography

    Journal of Clinical Ultrasound

    Volume 40, Issue 4, May 2012, Pages: 222–226, Rose Rahmani, Cara L. Sterling and H. Melanie Bedford

    Version of Record online : 22 NOV 2011, DOI: 10.1002/jcu.20902

  19. Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases

    International Journal of Immunogenetics

    Volume 38, Issue 6, December 2011, Pages: 501–505, P. E. A. Gray, D. Sillence and A. Kakakios

    Version of Record online : 7 OCT 2011, DOI: 10.1111/j.1744-313X.2011.01041.x

  20. Jeune syndrome associated with cystinuria: Report of two sisters

    American Journal of Medical Genetics

    Volume 37, Issue 3, November 1990, Pages: 301–303, S. Rinaldi, C. Dionisi-Vici, B. Goffredo, B. Dallapiccola and G. Rizzoni

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370302