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There are 15335 results for: content related to: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

  1. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Version of Record online : 26 NOV 2012, DOI: 10.1111/cge.12051

  2. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1511–1516, Mark C. Hannibal, Kati J. Buckingham, Sarah B. Ng, Jeffrey E. Ming, Anita E. Beck, Margaret J. McMillin, Heidi I. Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh-ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia-Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme C. Black, Jill Clayton-Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure and Michael J. Bamshad

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34074

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

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 230–237, 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.

    Version of Record online : 8 MAR 2016, DOI: 10.1111/cge.12754

  4. 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

    Version of Record online : 18 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01955.x

  5. Molecular Genetics of Kabuki Syndrome

    Standard Article

    eLS

    Lucia Micale and Giuseppe Merla

    Published Online : 15 MAY 2012, DOI: 10.1002/9780470015902.a0023848

  6. Insight into the genetic cause underlying Kabuki syndrome

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 133–134, S Ladha

    Version of Record online : 11 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01586.x

  7. 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

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12484

  8. 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

    Version of Record online : 27 MAR 2014, DOI: 10.1111/cge.12363

  9. MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  10. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2003–2008, Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray and Antonio Richieri-Costa

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35454

  11. Congenital corneal staphyloma as a complication of Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2000–2002, Ryuma Tanaka, Toshiki Takenouchi, Keiko Uchida, Takeshi Sato, Hiroyuki Fukushima, Hiroshi Yoshihashi, Takao Takahashi, Kazuo Tsubota and Kenjiro Kosaki

    Version of Record online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35453

  12. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 234–243, Constance Th.R.M. Schrander-Stumpel, Liesbeth Spruyt, Leopold M.G. Curfs, Truus Defloor and Jaap J.P. Schrander

    Version of Record online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30331

  13. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 3, 15 December 2003, Pages: 249–252, Jeffrey E. Ming, Karen L. Russell, Lynn Bason, Donna M. McDonald-McGinn and Elaine H. Zackai

    Version of Record online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20277

  14. Kabuki syndrome: a review

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 209–219, MP Adam and L Hudgins

    Version of Record online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00348.x

  15. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

  16. Hypoglycemia in Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 467–471, Anbezhil Subbarayan and Khalid Hussain

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36256

  17. Patient with Kabuki syndrome and acute leukemia

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 76–79, Sabine Scherer, Ursel Theile, Vera Beyer, Rudolf Ferrari, Christiane Kreck and Manfred Rister

    Version of Record online : 23 MAY 2003, DOI: 10.1002/ajmg.a.20261

  18. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1289–1292, Damien Lederer, Debbie Shears, Valérie Benoit, Christine Verellen-Dumoulin and Isabelle Maystadt

    Version of Record online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36442

  19. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1333–1338, Paraskevi Karagianni, Vassilios Lambropoulos, Dorothea Stergidou, Helena Fryssira, Ilias Chatziioannidis and Ioannis Spyridakis

    Version of Record online : 22 FEB 2016, DOI: 10.1002/ajmg.a.37584

  20. Further delineation of Kabuki syndrome in 48 well-defined new individuals

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 265–272, Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J. Aughton, Clarisse Baumann, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, John M. Graham Jr, Theresa A. Grebe, Karen W. Gripp, Bryan D. Hall, Raoul Hennekam, Alasdair Hunter, Kim Keppler-Noreuil, Didier Lacombe, Angela E. Lin, Jeffrey E. Ming, Nancy Mizue Kokitsu-Nakata, Sarah M. Nikkel, Nicole Philip, Annick Raas-Rothschild, Annemarie Sommer, Alain Verloes, Claudia Walter, Dagmar Wieczorek, Marc S. Williams, Elaine Zackai and Judith E. Allanson

    Version of Record online : 22 DEC 2004, DOI: 10.1002/ajmg.a.30340