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There are 37170 results for: content related to: A De Novo Deletion at 16q24.3 Involving ANKRD 11 in a Japanese Patient With KBG Syndrome

  1. 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

  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. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 17–23, Adriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, Francesco Giuseppe Garaci, Patrizio Bollero, Paolo Alfieri and Paolo Curatolo

    Version of Record online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32113

  4. 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

  5. The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2541–2550, Marzena Kucharczyk, Andrzej Kochański, Aleksandra Jezela-Stanek, Monika Kugaudo, Danuta Sielska-Rotblum, Anna Gutkowska and Małgorzata Krajewska-Walasek

    Version of Record online : 8 AUG 2014, DOI: 10.1002/ajmg.a.36686

  6. 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

  7. 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

  8. A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1501–1504, Malgorzata Kowalczyk, Agnieszka Tomaszewska, Agnieszka Podbiol-Palenta, Barbara Remiszewska, Robert Jan H. Galjaard, Stanislaw Zajaczek and Malgorzata I. Srebniak

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35912

  9. Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 339–345, S. Brisset, G. Joly, C. Ozilou, J.-M. Lapierre, Ph. Gosset, M. LeLorc'h, O. Raoul, C. Turleau, M. Vekemans and S.P. Romana

    Version of Record online : 12 SEP 2002, DOI: 10.1002/ajmg.b.10740

  10. You have free access to this content
    Deletion mapping of chromosome 16q24 in hepatocellular carcinoma in Taiwan and mutational analysis of the 17-β-HSD gene localized to the region

    International Journal of Cancer

    Volume 93, Issue 1, 1 July 2001, Pages: 74–79, Ya-Wen Lin, I-Neng Lee, Chien-Hung Chen, Guan-Tarn Huang, Hsuan-Shu Lee, Po-Huang Lee, Fung-Jou Lu and Jin-Chuan Sheu

    Version of Record online : 6 APR 2001, DOI: 10.1002/ijc.1287

  11. 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

  12. You have free access to this content
    Concurrent deletion of 16q23 and PTEN is an independent prognostic feature in prostate cancer

    International Journal of Cancer

    Volume 137, Issue 10, 15 November 2015, Pages: 2354–2363, Martina Kluth, Frederic Runte, Philipp Barow, Jazan Omari, Zaid M. Abdelaziz, Lisa Paustian, Stefan Steurer, Maria Christina Tsourlakis, Margit Fisch, Markus Graefen, Pierre Tennstedt, Hartwig Huland, Uwe Michl, Sarah Minner, Guido Sauter, Ronald Simon, Meike Adam and Thorsten Schlomm

    Version of Record online : 4 JUN 2015, DOI: 10.1002/ijc.29613

  13. Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array-CGH study

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2597–2600, Aurélie Coussement, Philippe Lochu, Jean-Michel Dupont and Agnès Choiset

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34210

  14. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients

    Genes, Chromosomes and Cancer

    Volume 47, Issue 8, August 2008, Pages: 680–696, Silje H. Nordgard, Fredrik E. Johansen, Grethe I. G. Alnæs, Elmar Bucher, Ann-Christine Syvänen, Bjørn Naume, Anne-Lise Børresen-Dale and Vessela N. Kristensen

    Version of Record online : 8 APR 2008, DOI: 10.1002/gcc.20569

  15. Loss of heterozygosity in chromosomal region 16q24.3 associated with progression of prostate cancer

    The Prostate

    Volume 62, Issue 3, 15 February 2005, Pages: 267–274, Päivi Härkönen, Atte P. Kyllönen, Stig Nordling and Pirkko Vihko

    Version of Record online : 23 JUL 2004, DOI: 10.1002/pros.20147

  16. Karyotype–phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2721–2729, Peining Li, Hui Z. Zhang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh, Jingwei Yu, Anna Szekely, Tian Xu and Barbara R. Pober

    Version of Record online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31498

  17. You have free access to this content
    Chromosome 16 in primary prostate cancer: A microsatellite analysis

    International Journal of Cancer

    Volume 71, Issue 4, 16 May 1997, Pages: 580–584, Iman Osman, Howard Scher, Guido Dalbagni, Victor Reuter, Zuo-Feng Zhang and Carlos Cordon-Cardo

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1097-0215(19970516)71:4<580::AID-IJC12>3.0.CO;2-G

  18. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

    Clinical Genetics

    Volume 79, Issue 3, March 2011, Pages: 273–281, S Basit, A Wali, A Aziz, N Muhammad, M Jelani and W Ahmad

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01455.x

  19. Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1575–1580, Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka and Kenji Kurosawa

    Version of Record online : 9 MAY 2008, DOI: 10.1002/ajmg.a.32204

  20. A widely expressed transcription factor with multiple DNA sequence specificity, CTCF, is localized at chromosome segment 16q22.1 within one of the smallest regions of overlap for common deletions in breast and prostate cancers

    Genes, Chromosomes and Cancer

    Volume 22, Issue 1, May 1998, Pages: 26–36, Galina N. Filippova, Annika Lindblom, Linda J. Meincke, Elena M. Klenova, Paul E. Neiman, Steve J. Collins, Norman A. Doggett and Victor V. Lobanenkov

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199805)22:1<26::AID-GCC4>3.0.CO;2-9