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There are 2077207 results for: content related to: Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

  1. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 547–552, Stephanie Sacharow, Deling Li, Yao Shan Fan and Mustafa Tekin

    Version of Record online : 3 FEB 2012, DOI: 10.1002/ajmg.a.34436

  2. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 835–840, Mohamed Khalifa, Jennifer Stein, Lance Grau, Valery Nelson, Jeanne Meck, Swaroop Aradhya and John Duby

    Version of Record online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35739

  3. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2847–2859, Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andree Delahaye-Duriez, Thierry Frebourg, Vincent Gatinois, Anne-Marie Guerrot, David Genevieve, Francois Lecoquierre, Aurélia Jacquette, Philippe Khau Van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenael Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel Van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber and Nicole Philip

    Version of Record online : 8 SEP 2016, DOI: 10.1002/ajmg.a.37878

  4. You have full text access to this OnlineOpen article
    Clinical and genetic aspects of KBG syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2835–2846, Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury-Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, DDD Study and Sarah Smithson

    Version of Record online : 26 SEP 2016, DOI: 10.1002/ajmg.a.37842

  5. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1744–1749, Sanjin Tunovic, James Barkovich, Elliott H. Sherr and Anne M. Slavotinek

    Version of Record online : 16 MAY 2014, DOI: 10.1002/ajmg.a.36450

  6. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 74–81, I. Parenti, C. Gervasini, J. Pozojevic, L. Graul-Neumann, J. Azzollini, D. Braunholz, E. Watrin, K.S. Wendt, A. Cereda, D. Cittaro, G. Gillessen-Kaesbach, D. Lazarevic, M. Mariani, S. Russo, R. Werner, P. Krawitz, L. Larizza, A. Selicorni and F.J. Kaiser

    Version of Record online : 25 FEB 2015, DOI: 10.1111/cge.12564

  7. KBG syndrome: An Australian experience

    American Journal of Medical Genetics Part A

    Volume 173, Issue 7, July 2017, Pages: 1866–1877, Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin and Himanshu Goel

    Version of Record online : 27 APR 2017, DOI: 10.1002/ajmg.a.38121

  8. A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1073–1077, Satoko Miyatake, Akira Murakami, Nobuhiko Okamoto, Michiko Sakamoto, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35661

  9. A splice-site variant in ANKRD11 associated with classical KBG syndrome

    American Journal of Medical Genetics Part A

    Volume 173, Issue 10, October 2017, Pages: 2844–2846, Karen J. Low, Alison Hills, Maggie Williams, Celia Duff-Farrier, Shane McKee and Sarah F. Smithson

    Version of Record online : 17 AUG 2017, DOI: 10.1002/ajmg.a.38397

  10. You have free access to this content
    Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling

    European Journal of Immunology

    Volume 42, Issue 5, May 2012, Pages: 1304–1315, Yetao Wang, Xiaomei Tong, Gang Li, Junhui Li, Min Deng and and Xin Ye

    Version of Record online : 26 APR 2012, DOI: 10.1002/eji.201142125

  11. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes

    Clinical Genetics

    C. Lintas and A.M. Persico

    Version of Record online : 1 MAR 2017, DOI: 10.1111/cge.12983

  12. You have free access to this content
    Differential atrial versus ventricular ANKRD1 gene expression is oppositely regulated at diastolic heart failure

    FEBS Letters

    Volume 580, Issue 17, July 24, 2006, Pages: 4182–4187, Mario Torrado, Beatriz Nespereira, Yolanda Bouzamayor, Alberto Centeno, Eduardo López and Alexander T. Mikhailov

    Version of Record online : 5 JUL 2006, DOI: 10.1016/j.febslet.2006.06.073

  13. Epigenetic regulation of ANKRD18B in lung cancer

    Molecular Carcinogenesis

    Volume 54, Issue 4, April 2015, Pages: 312–321, Wen-Bin Liu, Fei Han, Xiao Jiang, Li Yin, Hong-Qiang Chen, Yong-Hong Li, Yong Liu, Jia Cao and Jin-Yi Liu

    Version of Record online : 19 NOV 2013, DOI: 10.1002/mc.22101

  14. KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 3, 1 February 2007, Pages: 292–300, K.L. Skjei, M.M. Martin and A.M. Slavotinek

    Version of Record online : 17 JAN 2007, DOI: 10.1002/ajmg.a.31597

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    Ankrd17, an ubiquitously expressed ankyrin factor, is essential for the vascular integrity during embryogenesis

    FEBS Letters

    Volume 583, Issue 17, September 03, 2009, Pages: 2765–2771, Shin-Chen Hou, Li-Wei Chan, Yu-Chi Chou, Ching-Yuan Su, Xin Chen, Yen-Ling Shih, Pei-Chun Tsai, C.-K. James Shen and Yu-Ting Yan

    Version of Record online : 18 JUL 2009, DOI: 10.1016/j.febslet.2009.07.025

  16. You have free access to this content
    A role for the Ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses

    FEBS Letters

    Volume 587, Issue 14, July 11, 2013, Pages: 2137–2142, Maureen Menning and Thomas A. Kufer

    Version of Record online : 24 MAY 2013, DOI: 10.1016/j.febslet.2013.05.037

  17. You have free access to this content
    Intracellular ANKRD1 protein levels are regulated by 26S proteasome-mediated degradation

    FEBS Letters

    Volume 583, Issue 15, August 06, 2009, Pages: 2486–2492, Ileana Badi, Raffaella Cinquetti, Michela Frascoli, Cinzia Parolini, Giulia Chiesa, Roberto Taramelli and Francesco Acquati

    Version of Record online : 8 JUL 2009, DOI: 10.1016/j.febslet.2009.07.001

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    In this issue

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Page: 2766,

    Version of Record online : 17 OCT 2016, DOI: 10.1002/ajmg.a.38007

  19. Enumeration of four-connected three-dimensional nets. I. Conversion of all edges of simple three-connected two-dimensional nets into crankshaft chains

    Acta Crystallographica Section A

    Volume 55, Issue 2-2, March 1999, Pages: 332–341, Shaoxu Han and Joseph V. Smith

    DOI: 10.1107/S0108767398010009

  20. Traumatic lateral abdominal wall hematoma treated with Kampo medicines

    Traditional & Kampo Medicine

    Volume 2, Issue 2, September 2015, Pages: 102–104, Hajime Nakae, Manabu Okuyama and Toshiko Igarashi

    Version of Record online : 29 JUL 2015, DOI: 10.1002/tkm2.1022