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There are 9744 results for: content related to: Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

  1. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 504–511, Guillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, Joris Andrieux, Aline Receveur, Astrid Weber, Una Maye, Nicola Foulds, IK Temple, John Crolla, Marie-Pierre Alex-Cordier, Damien Sanlaville, Lisa Ewans, Meredith Wilson, Ruth Armstrong, Amanda Clarkson, Henri Copin and Gilles Morin

    Version of Record online : 8 JAN 2015, DOI: 10.1002/ajmg.a.36882

  2. The paradox of 20q11.21 amplification in a subset of cases of myeloid malignancy with chromosome 20 deletion

    Genes, Chromosomes and Cancer

    Volume 49, Issue 11, November 2010, Pages: 998–1013, Ruth N. MacKinnon, Carly Selan, Meaghan Wall, Elizabeth Baker, Harshal Nandurkar and Lynda J. Campbell

    Version of Record online : 19 JUL 2010, DOI: 10.1002/gcc.20806

  3. You have free access to this content
    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2004.47

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    DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes

    Cytometry

    Volume 46, Issue 2, 15 April 2001, Pages: 79–84, Samantha Menghi-Sartorio, Nils Mandahl, Fredrick Mertens, Piero Picci and Sakari Knuutila

    Version of Record online : 12 APR 2001, DOI: 10.1002/cyto.1068

  5. The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1056–1061, Renata Posmyk, Ryszard Leśniewicz, Magdalena Gogiel, Monika Chorąży, Alina Bakunowicz-Łazarczyk, Danuta Sielicka, Joris Vermeesch and Beata Anna Nowakowska

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36394

  6. A de novo deletion of 20q11.2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 409–414, Yoko Hiraki, Akira Nishimura, Michiko Hayashidani, Yoshiko Terada, Gen Nishimura, Nobuhiko Okamoto, Sachiko Nishina, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Version of Record online : 13 JAN 2011, DOI: 10.1002/ajmg.a.33818

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    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  8. Interstitial del(20)(q11.2q12)—Clinical and molecular cytogenetic characterization

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1880–1884, M. Anwar Iqbal and Mohammad Al-Owain

    Version of Record online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31844

  9. Identification of copy number gain and overexpressed genes on chromosome arm 20q by an integrative genomic approach in cervical cancer: Potential role in progression

    Genes, Chromosomes and Cancer

    Volume 47, Issue 9, September 2008, Pages: 755–765, Luigi Scotto, Gopeshwar Narayan, Subhadra V. Nandula, Hugo Arias-Pulido, Shivakumar Subramaniyam, Achim Schneider, Andreas M. Kaufmann, Jason D. Wright, Bhavana Pothuri, Mahesh Mansukhani and Vundavalli V. Murty

    Version of Record online : 27 MAY 2008, DOI: 10.1002/gcc.20577

  10. Characterizing Genetic Transitions of Copy Number Alterations and Allelic Imbalances in Oral Tongue Carcinoma Metastasis

    Genes, Chromosomes and Cancer

    Volume 55, Issue 12, December 2016, Pages: 975–986, Takuma Morita, Narikazu Uzawa, Kaoru Mogushi, Jun Sumino, Chieko Michikawa, Ken-Ichiro Takahashi, Kunihiro Myo, Toshiyuki Izumo and Kiyoshi Harada

    Version of Record online : 19 AUG 2016, DOI: 10.1002/gcc.22395

  11. Frequent genomic imbalances in chromosomes 17, 19, and 22q in peripheral nerve sheath tumours detected by comparative genomic hybridization analysis

    The Journal of Pathology

    Volume 197, Issue 1, May 2002, Pages: 98–107, Takamasa Koga, Hiroshi Iwasaki, Masako Ishiguro, Akio Matsuzaki and Masahiro Kikuchi

    Version of Record online : 20 MAR 2002, DOI: 10.1002/path.1101

  12. Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 10, 15 May 2008, Pages: 1307–1311, Pierre Blanc, Laetitia Gouas, Christine Francannet, Michel Giollant, Philippe Vago and Carole Goumy

    Version of Record online : 2 APR 2008, DOI: 10.1002/ajmg.a.32278

  13. Chromosome 20

    Standard Article

    eLS

    Nicolas Pollet

    Published Online : 27 JAN 2006, DOI: 10.1038/npg.els.0005829

  14. A FISH comparison of variant derivatives of the recurrent dic(17;20) of myelodysplastic syndromes and acute myeloid leukemia: Obligatory retention of genes on 17p and 20q may explain the formation of dicentric chromosomes

    Genes, Chromosomes and Cancer

    Volume 46, Issue 1, January 2007, Pages: 27–36, Ruth N. MacKinnon, Cris Patsouris, Ilse Chudoba and Lynda J. Campbell

    Version of Record online : 17 OCT 2006, DOI: 10.1002/gcc.20385

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    Nosology and classification of genetic skeletal disorders: 2006 revision

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 1, 1 January 2007, Pages: 1–18, Andrea Superti-Furga and Sheila Unger

    Version of Record online : 21 NOV 2006, DOI: 10.1002/ajmg.a.31483

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    Characterisation of dic(9;20)(p11–13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2

    British Journal of Haematology

    Volume 135, Issue 4, November 2006, Pages: 492–499, Jacqueline Schoumans, Bertil Johansson, Martin Corcoran, Ekaterina Kuchinskaya, Irina Golovleva, Dan Grandér, Erik Forestier, Johan Staaf, Åke Borg, Britt Gustafsson, Elisabeth Blennow and Ann Nordgren

    Version of Record online : 26 SEP 2006, DOI: 10.1111/j.1365-2141.2006.06328.x

  17. You have free access to this content
    The Human Obesity Gene Map: The 2002 Update

    Obesity Research

    Volume 11, Issue 3, March 2003, Pages: 313–367, Yvon C. Chagnon, Tuomo Rankinen, Eric E. Snyder, S. John Weisnagel, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2003.47

  18. You have free access to this content
    Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

    British Journal of Haematology

    Volume 164, Issue 1, January 2014, Pages: 153–155, Jana Brezinova, Iveta Sarova, Halka Buryova, Jana Markova, Sarka Ransdorfova, Silvia Izakova, Karla Kostylkova, Jacqueline Soukupova, Zuzana Zemanova and Kyra Michalova

    Version of Record online : 10 OCT 2013, DOI: 10.1111/bjh.12586

  19. Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis

    Genes, Chromosomes and Cancer

    Volume 49, Issue 4, April 2010, Pages: 390–399, Jungwon Huh, Ramon V. Tiu, Lukasz P. Gondek, Christine L. O'Keefe, Monika Jasek, Hideki Makishima, Ania M. Jankowska, Ying Jiang, Amit Verma, Karl S. Theil, Michael A. McDevitt and Jaroslaw P. Maciejewski

    Version of Record online : 21 JAN 2010, DOI: 10.1002/gcc.20748

  20. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1406–1429, Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

    Version of Record online : 4 FEB 2017, DOI: 10.1002/ajmg.a.38159