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There are 50028 results for: content related to: Chromodomain proteins in development: lessons from CHARGE syndrome

  1. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 674–686, Gabriel E. Zentner, Wanda S. Layman, Donna M. Martin and Peter C. Scacheri

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33323

  2. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome

    Journal of Comparative Neurology

    Volume 504, Issue 5, 10 October 2007, Pages: 519–532, Meredith E. Adams, Elizabeth A. Hurd, Lisa A. Beyer, Donald L. Swiderski, Yehoash Raphael and Donna M. Martin

    Version of Record online : 13 AUG 2007, DOI: 10.1002/cne.21460

  3. Mutation update on the CHD7 gene involved in CHARGE syndrome

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1149–1160, Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts and Lies H. Hoefsloot

    Version of Record online : 16 APR 2012, DOI: 10.1002/humu.22086

  4. You have full text access to this OnlineOpen article
    The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

    Developmental Dynamics

    Volume 243, Issue 9, September 2014, Pages: 1055–1066, Ethan D. Sperry, Elizabeth A. Hurd, Mark A. Durham, Elyse N. Reamer, Adam B. Stein and Donna M. Martin

    Version of Record online : 10 JUL 2014, DOI: 10.1002/dvdy.24156

  5. Molecular Genetics of CHARGE Syndrome

    Standard Article

    eLS

    Conny M A Ravenswaaij-Arts and Lies H Hoefsloot

    Published Online : 15 NOV 2012, DOI: 10.1002/9780470015902.a0024289

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    Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L

    Genes to Cells

    Volume 17, Issue 7, July 2012, Pages: 536–547, Yasuyuki Kita, Masaaki Nishiyama and Keiichi I. Nakayama

    Version of Record online : 31 MAY 2012, DOI: 10.1111/j.1365-2443.2012.01606.x

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    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1251–1260, Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts and Robert M.W. Hofstra

    Version of Record online : 11 MAY 2012, DOI: 10.1002/humu.22106

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    Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 170, Issue 2, February 2016, Pages: 344–354, Caitlin L. Hale, Adrienne N. Niederriter, Glenn E. Green and Donna M. Martin

    Version of Record online : 21 NOV 2015, DOI: 10.1002/ajmg.a.37435

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    12th International CHARGE syndrome conference proceedings

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 856–869, Donna M. Martin, Nancy Salem-Hartshorne, Timothy S. Hartshorne, Peter C. Scacheri and Margaret A. Hefner

    Version of Record online : 11 JAN 2016, DOI: 10.1002/ajmg.a.37544

  10. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

    Clinical Genetics

    Volume 75, Issue 1, January 2009, Pages: 65–71, MCJ Jongmans, CMA Van Ravenswaaij-Arts, N Pitteloud, T Ogata, N Sato, HL Claahsen-van der Grinten, K Van Der Donk, S Seminara, JEH Bergman, HG Brunner, WF Crowley Jr and LH Hoefsloot

    Version of Record online : 19 NOV 2008, DOI: 10.1111/j.1399-0004.2008.01107.x

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    CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus

    STEM CELLS

    Volume 33, Issue 1, January 2015, Pages: 196–210, Kieran M. Jones, Nemanja Sarić, John P. Russell, Cynthia L. Andoniadou, Peter J. Scambler and M. Albert Basson

    Version of Record online : 18 DEC 2014, DOI: 10.1002/stem.1822

  12. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3003–3009, Nicole Corsten-Janssen, Gideon J. du Marchie Sarvaas, Wilhelmina S. Kerstjens-Frederikse, Lies H. Hoefsloot, Ingrid M. van Beynum, Livia Kapusta and Conny M.A. van Ravenswaaij-Arts

    Version of Record online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36747

  13. Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1117–1127, Shashikant Kulkarni, Prabakaran Nagarajan, Jonathan Wall, Diana J. Donovan, Robert L. Donell, Azra H. Ligon, Sundaresan Venkatachalam and Dr. Bradley J. Quade

    Version of Record online : 3 APR 2008, DOI: 10.1002/ajmg.a.32178

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    Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers – initial evidence of an oncogenic role for CHD7

    Molecular Oncology

    Xiaofang Chu, Xuhui Guo, Yuanyuan Jiang, Huimei Yu, Lanxin Liu, Wenqi Shan and Zeng-Quan Yang

    Version of Record online : 21 JUL 2017, DOI: 10.1002/1878-0261.12104

  15. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 43–50, Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk, Ronald J. Admiraal, Alex Magee, Ingrid van de Laar, Yvonne Hendriks, Joke B.G.M. Verheij, Ian Walpole, Han G. Brunner and Conny M.A. van Ravenswaaij

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.31921

  16. Proven germline mosaicism in a father of two children with CHARGE syndrome

    Clinical Genetics

    Volume 75, Issue 5, May 2009, Pages: 473–479, S Pauli, L Pieper, J Häberle, P Grzmil, P Burfeind, M Steckel, U Lenz and HW Michelmann

    Version of Record online : 17 MAR 2009, DOI: 10.1111/j.1399-0004.2009.01151.x

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    Chd7 plays a critical role in controlling left–right symmetry during zebrafish somitogenesis

    Developmental Dynamics

    Volume 240, Issue 10, October 2011, Pages: 2272–2280, Nicole L. Jacobs-McDaniels and R. Craig Albertson

    Version of Record online : 7 SEP 2011, DOI: 10.1002/dvdy.22722

  18. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 125–134, E Husu, HD Hove, S Farholt, M Bille, L Tranebjærg, I Vogel and S Kreiborg

    Version of Record online : 30 APR 2012, DOI: 10.1111/j.1399-0004.2012.01884.x

  19. Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3057–3067, Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno and Nobuaki Wakamatsu

    Version of Record online : 17 NOV 2010, DOI: 10.1002/ajmg.a.33174

  20. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

    Clinical Genetics

    Volume 81, Issue 3, March 2012, Pages: 234–239, S Pauli, N von Velsen, P Burfeind, M Steckel, J Mänz, A Buchholz, W Borozdin and J Kohlhase

    Version of Record online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01701.x