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There are 5502 results for: content related to: Cranioectodermal dysplasia: A probable ciliopathy

  1. Connective tissue involvement in two patients with features of cranioectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2212–2215, Andrew E. Fry, Claus Klingenberg, Jean Matthes, Ketil Heimdal, Raoul C.M. Hennekam and Daniela T. Pilz

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33027

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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. WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2917–2924, Carlos A. Bacino, Shweta U. Dhar, Nicola Brunetti-Pierri, Brendan Lee and Penelope E. Bonnen

    Version of Record online : 17 SEP 2012, DOI: 10.1002/ajmg.a.35608

  4. Role of cilia in structural birth defects: Insights from ciliopathy mutant mouse models

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 102, Issue 2, June 2014, Pages: 115–125, Rama Rao Damerla, George C. Gabriel, You Li, Nikolai T. Klena, Xiaoqin Liu, Yu Chen, Cheng Cui, Gregory J. Pazour and Cecilia W. Lo

    Version of Record online : 26 JUN 2014, DOI: 10.1002/bdrc.21067

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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

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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

  7. 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

  8. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1295–1301, Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano and Bernd Wollnik

    Version of Record online : 21 JAN 2016, DOI: 10.1002/ajmg.a.37570

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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

  10. Clinical and molecular features of Joubert syndrome and related disorders

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 326–340, Melissa A. Parisi

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30229

  11. Renal function and volume of infants born with a very low birth-weight: a preliminary cross-sectional study

    Acta Paediatrica

    Volume 99, Issue 8, August 2010, Pages: 1192–1198, M Zaffanello, M Brugnara, C Bruno, B Franchi, G Talamini, G Guidi, L Cataldi, P Biban, R Mella and V Fanos

    Version of Record online : 14 MAR 2010, DOI: 10.1111/j.1651-2227.2010.01799.x

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    Ciliopathies: The Trafficking Connection

    Traffic

    Volume 15, Issue 10, October 2014, Pages: 1031–1056, Kayalvizhi Madhivanan and Ruben Claudio Aguilar

    Version of Record online : 11 AUG 2014, DOI: 10.1111/tra.12195

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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

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    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

  14. You have full text access to this OnlineOpen article
    Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes

    Molecular Systems Biology

    Volume 13, Issue 6, June 2017, Kevin Drew, Chanjae Lee, Ryan L Huizar, Fan Tu, Blake Borgeson, Claire D McWhite, Yun Ma, John B Wallingford and Edward M Marcotte

    Version of Record online : 9 JUN 2017, DOI: 10.15252/msb.20167490

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    Oxygen Uptakes Adjusted for Body Composition in Normal-Weight and Obese Adolescents

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 513–520, Ulf Ekelund, Paul W. Franks, Nicolas J. Wareham and Jan Åman

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2004.58

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    Bardet–Biedl syndrome: Is it only cilia dysfunction?

    FEBS Letters

    Volume 589, Issue 22, November 14, 2015, Pages: 3479–3491, Rossina Novas, Magdalena Cardenas-Rodriguez, Florencia Irigoín and Jose L. Badano

    Version of Record online : 29 JUL 2015, DOI: 10.1016/j.febslet.2015.07.031

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    New frontiers: discovering cilia-independent functions of cilia proteins

    EMBO reports

    Volume 16, Issue 10, October 2015, Pages: 1275–1287, Anastassiia Vertii, Alison Bright, Benedicte Delaval, Heidi Hehnly and Stephen Doxsey

    Version of Record online : 10 SEP 2015, DOI: 10.15252/embr.201540632

  18. You have full text access to this OnlineOpen article
    Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3042–3049, Maha S. Zaki, Shifteh Sattar, Rustin A. Massoudi and Joseph G. Gleeson

    Version of Record online : 14 OCT 2011, DOI: 10.1002/ajmg.a.34173

  19. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Version of Record online : 18 NOV 2013, DOI: 10.1111/cge.12301

  20. Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 36–40, Nouran Adly, Amal Alhashem, Amer Ammari and Fowzan S. Alkuraya

    Version of Record online : 25 NOV 2013, DOI: 10.1002/humu.22477