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There are 7210 results for: content related to: Chromodomain proteins in development: lessons from CHARGE syndrome

  1. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

    Clinical Genetics

    Volume 72, Issue 2, August 2007, Pages: 112–121, A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh-Bergès, I Delpierre, S Audollent, S Wiener-Vacher, A-L Mansbach, J Amiel, C Baumann, D Bremond-Gignac, T Attié-Bitach, A Verloes and D Sanlaville

    Article first published online : 20 JUL 2007, DOI: 10.1111/j.1399-0004.2007.00821.x

  2. 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

    Article first published online : 17 MAR 2009, DOI: 10.1111/j.1399-0004.2009.01151.x

  3. 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

    Article first published online : 30 APR 2012, DOI: 10.1111/j.1399-0004.2012.01884.x

  4. 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

    Article first published online : 19 NOV 2008, DOI: 10.1111/j.1399-0004.2008.01107.x

  5. 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

    Article first published online : 16 APR 2012, DOI: 10.1002/humu.22086

  6. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

    Clinical Genetics

    Volume 74, Issue 1, July 2008, Pages: 31–38, J Wincent, E Holmberg, K Strömland, M Soller, L Mirzaei, T Djureinovic, KL Robinson, BM Anderlid and J Schoumans

    Article first published online : 28 APR 2008, DOI: 10.1111/j.1399-0004.2008.01014.x

  7. 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

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33323

  8. You have free access to this content
    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

    Article first published online : 18 DEC 2014, DOI: 10.1002/stem.1822

  9. Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

    Clinical Genetics

    Volume 75, Issue 3, March 2009, Pages: 290–293, Y-W Lee, a SC Kim, b YL Shin, c J-W Kim, d HS Hong, e YK Lee and a C-S Ki d

    Article first published online : 21 JAN 2009, DOI: 10.1111/j.1399-0004.2008.01127.x

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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

    Article first published 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

    Article first published online : 11 MAY 2012, DOI: 10.1002/humu.22106

  12. 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

  13. An overview of isolated and syndromic oesophageal atresia

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 392–399, D Geneviève, L De Pontual, J Amiel, S Sarnacki and S Lyonnet

    Article first published online : 2 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00798.x

  14. Death in CHARGE syndrome after the neonatal period

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 232–240, JEH Bergman, KD Blake, MK Bakker, GJ Du Marchie Sarvaas, RH Free and CMA Van Ravenswaaij-Arts

    Article first published online : 23 FEB 2010, DOI: 10.1111/j.1399-0004.2009.01334.x

  15. 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

    Article first published online : 10 JUL 2014, DOI: 10.1002/dvdy.24156

  16. 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

    Article first published online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01701.x

  17. 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

    Article first published online : 13 AUG 2007, DOI: 10.1002/cne.21460

  18. Hippocampus development and function: role of epigenetic factors and implications for cognitive disease

    Clinical Genetics

    Volume 78, Issue 4, October 2010, Pages: 321–333, PS Lagali, CP Corcoran and DJ Picketts

    Article first published online : 6 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01503.x

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    Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research

    Congenital Anomalies

    Volume 51, Issue 1, March 2011, Pages: 12–15, Kenjiro Kosaki

    Article first published online : 21 FEB 2011, DOI: 10.1111/j.1741-4520.2010.00309.x

  20. 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

    Article first published online : 11 DEC 2007, DOI: 10.1002/ajmg.a.31921