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There are 7880202 results for: content related to: Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype

  1. You have free access to this content
    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

  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. 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

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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

    Version of Record online : 21 FEB 2011, DOI: 10.1111/j.1741-4520.2010.00309.x

  6. 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

  7. 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

  8. 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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    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

  10. 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

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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

  12. 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

  13. 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

  14. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  15. 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

  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

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

  17. Hd1,a CONSTANS ortholog in rice, functions as an Ehd1 repressor through interaction with monocot-specific CCT-domain protein Ghd7

    The Plant Journal

    Volume 86, Issue 3, May 2016, Pages: 221–233, Yasue Nemoto, Yasunori Nonoue, Masahiro Yano and Takeshi Izawa

    Version of Record online : 10 JUN 2016, DOI: 10.1111/tpj.13168

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    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

  19. 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

  20. Family history and clefting as major criteria for CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 48–53, Susan Starling Hughes, Holly I. Welsh, Nicole P. Safina, Khemissa Bejaoui and Holly H. Ardinger

    Version of Record online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36192