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There are 3458 results for: content related to: Unmasking Kabuki syndrome

  1. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

    Clinical Genetics

    J. Paděrová, A. Holubová, M. Simandlová, A. Puchmajerová, M. Vlčková, M. Malíková, R. Pourová, S. Vejvalková, M. Havlovicová, M. Šenkeříková, N. Ptáková, J. Drábová, J. Geryk, A. Maver, A. Křepelová and M. Macek Jr.

    Article first published online : 8 MAR 2016, DOI: 10.1111/cge.12754

  2. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12484

  3. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 252–258, S. Banka, D. Lederer, V. Benoit, E. Jenkins, E. Howard, S. Bunstone, B. Kerr, S. McKee, I.C. Lloyd, D. Shears, H. Stewart, S.M. White, R. Savarirayan, G.M.S. Mancini, D. Beysen, R.D. Cohn, B. Grisart, I. Maystadt and D. Donnai

    Article first published online : 27 MAR 2014, DOI: 10.1111/cge.12363

  4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

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    Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 115–119, N. Miyake, Y. Tsurusaki, E. Koshimizu, N. Okamoto, T. Kosho, N.J. Brown, T.Y. Tan, P.J.J. Yap, H. Suzumura, T. Tanaka, T. Nagai, M. Nakashima, H. Saitsu, N. Niikawa and N. Matsumoto

    Article first published online : 14 APR 2015, DOI: 10.1111/cge.12586

  6. Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 212–214, N Bögershausen, E Bruford and B Wollnik

    Article first published online : 27 NOV 2012, DOI: 10.1111/cge.12050

  7. You have full text access to this OnlineOpen article
    A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia

    Clinical Genetics

    L. Lange, A. T. Pagnamenta, S. Lise, S. Clasper, H. Stewart, E. S. Akha, G. Quaghebeur, S. J. L. Knight, D. A. Keays, J. C. Taylor and U. Kini

    Article first published online : 1 APR 2016, DOI: 10.1111/cge.12773

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    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 415–421, JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

    Article first published online : 21 AUG 2013, DOI: 10.1111/cge.12242

  9. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Article first published online : 9 FEB 2016, DOI: 10.1111/cge.12737

  10. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

  11. Human facial dysostoses

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 499–510, D Wieczorek

    Article first published online : 8 APR 2013, DOI: 10.1111/cge.12123

  12. MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 467–471, S Banka, E Howard, S Bunstone, KE Chandler, B Kerr, K Lachlan, S McKee, SG Mehta, ALT Tavares, J Tolmie and D Donnai

    Article first published online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01955.x

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  14. You have full text access to this OnlineOpen article
    Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

    Genes, Chromosomes and Cancer

    Volume 54, Issue 9, September 2015, Pages: 542–554, C. Christofer Juhlin, Adam Stenman, Felix Haglund, Victoria E. Clark, Taylor C. Brown, Jacob Baranoski, Kaya Bilguvar, Gerald Goh, Jenny Welander, Fredrika Svahn, Jill C. Rubinstein, Stefano Caramuta, Katsuhito Yasuno, Murat Günel, Martin Bäckdahl, Oliver Gimm, Peter Söderkvist, Manju L. Prasad, Reju Korah, Richard P. Lifton and Tobias Carling

    Article first published online : 29 MAY 2015, DOI: 10.1002/gcc.22267

  15. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Article first published online : 17 JUL 2015, DOI: 10.1111/cge.12631

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    (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Article first published online : 30 JUL 2015, DOI: 10.1111/cge.12635

  17. Systematic review of the psychosocial aspects of living with Marfan syndrome

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 109–116, G. Velvin, T. Bathen, S. Rand-Hendriksen and A.Ø. Geirdal

    Article first published online : 4 JUN 2014, DOI: 10.1111/cge.12422

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    Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 523–530, P. Brady, N. Brison, K. Van Den Bogaert, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius and J.R. Vermeesch

    Article first published online : 4 MAY 2015, DOI: 10.1111/cge.12598

  19. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  20. Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499