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There are 7927041 results for: content related to: Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics

  1. You have free access to this content
    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

  2. 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

  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. 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

  5. You have free access to this content
    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

  6. You have full text access to this OnlineOpen article
    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

  7. 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

  8. Chromodomain proteins in development: lessons from CHARGE syndrome

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 11–20, WS Layman, EA Hurd and DM Martin

    Version of Record online : 8 APR 2010, DOI: 10.1111/j.1399-0004.2010.01446.x

  9. You have free access to this content
    CHD7 gene and non-syndromic cleft lip and palate

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2110–2114, Têmis M. Félix, Benjamin C. Hanshaw, Robert Mueller, Pierre Bitoun and Jeffrey C. Murray

    Version of Record online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31308

  10. Ophthalmic features of CHARGE syndrome with CHD7 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 514–518, Sachiko Nishina, Rika Kosaki, Tatsuhiko Yagihashi, Noriyuki Azuma, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Kenji Kurosawa, Takahiro Yamane, Seiji Mizuno, Kinichi Tsuzuki and Kenjiro Kosaki

    Version of Record online : 2 FEB 2012, DOI: 10.1002/ajmg.a.34400

  11. 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

  12. An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 7, 1 April 2007, Pages: 721–726, Toru Udaka, Nobuhiko Okamoto, Michihiko Aramaki, Chiharu Torii, Rika Kosaki, Noboru Hosokai, Toshiyuki Hayakawa, Naoyuki Takahata, Takao Takahashi and Kenjiro Kosaki

    Version of Record online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31441

  13. 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

  14. 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

  15. You have free access to this content
    Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 79, Issue 1, January 2007, Pages: 50–57, Michihiko Aramaki, Tokuhiro Kimura, Toru Udaka, Rika Kosaki, Takayuki Mitsuhashi, Yasunori Okada, Takao Takahashi and Kenjiro Kosaki

    Version of Record online : 5 DEC 2006, DOI: 10.1002/bdra.20330

  16. 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

  17. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2712–2715, Ingrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, Marleen Simon, Jeanette Hoogeboom and Koenraad Devriendt

    Version of Record online : 15 OCT 2007, DOI: 10.1002/ajmg.a.32008

  18. Books

    Science News

    Volume 161, Issue 20, 18 May 2002, Page: 319,

    Version of Record online : 1 JUL 2009, DOI: 10.1002/scin.5591612018

  19. Masthead

    Zeitschrift für anorganische Chemie

    Volume 64, Issue 1, 17 November 1909, Page: fmi,

    Version of Record online : 9 NOV 2004, DOI: 10.1002/zaac.19090640101

  20. Masthead

    Journal of Robotic Systems

    Volume 12, Issue 12, December 1995, Page: fmi,

    Version of Record online : 13 MAR 2007, DOI: 10.1002/rob.4620121201