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There are 9036 results for: content related to: 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility

  1. Identification of a novel 12p13.3 amplicon in nasopharyngeal carcinoma

    The Journal of Pathology

    Volume 220, Issue 1, January 2010, Pages: 97–107, Yvonne Y-Y Or, Grace T-Y Chung, Ka-Fai To, Chit Chow, Kwong-Wai Choy, Carol Y-K Tong, Alice W-C Leung, Angela B-Y Hui, Sai-Wah Tsao, Ho-Keung Ng, Timothy T-C Yip, Pierre Busson and Kwok-Wai Lo

    Article first published online : 4 AUG 2009, DOI: 10.1002/path.2609

  2. Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 1, 15 February 2004, Pages: 77–85, Clotilde Lagier-Tourenne, E. Ginglinger, Y. Alembik, A. De Saint Martin, M.O. Peter, P. Dulucq, P. Jonveaux and E. Jeandidier

    Article first published online : 18 AUG 2003, DOI: 10.1002/ajmg.a.20450

  3. Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML-M1)

    Genes, Chromosomes and Cancer

    Volume 23, Issue 1, September 1998, Pages: 10–15, Roberta La Starza, Iwona Wlodarska, Caterina Matteucci, Daniela Falzetti, Mathijs Baens, Massimo F. Martelli, Herman Van den Berghe, Peter Marynen and Cristina Mecucci

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199809)23:1<10::AID-GCC2>3.0.CO;2-9

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    Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 276–282, Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W. Innis, Nancy B. Spinner, Laird G. Jackson and Ian D. Krantz

    Article first published online : 1 AUG 2005, DOI: 10.1002/ajmg.a.30857

  5. Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3033–3045, Kosuke Izumi, Laura K. Conlin, Donna Berrodin, Christopher Fincher, Alisha Wilkens, Chad Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

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    Establishment of a novel human myeloid leukemia cell line, AMU-AML1, carrying t(12;22)(p13;q11) without chimeric MN1-TEL and with high expression of MN1

    Genes, Chromosomes and Cancer

    Volume 51, Issue 1, January 2012, Pages: 42–53, Mayuko Gotou, Ichiro Hanamura, Hisao Nagoshi, Motohiro Wakabayashi, Natsumi Sakamoto, Norikazu Tsunekawa, Tomohiro Horio, Mineaki Goto, Shohei Mizuno, Miyuki Takahashi, Kazuto Suganuma, Hidesuke Yamamoto, Akihito Hiramatsu, Masaya Watarai, Masato Shikami, Akira Imamura, Hidetsugu Mihara, Tomohiko Taki, Hiroshi Miwa, Masafumi Taniwaki and Masakazu Nitta

    Article first published online : 2 OCT 2011, DOI: 10.1002/gcc.20929

  7. Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans

    American Journal of Hematology

    Volume 90, Issue 6, June 2015, Pages: 534–540, Weihong Tang, Mary Cushman, David Green, Stephen S. Rich, Leslie A. Lange, Qiong Yang, Russell P. Tracy, Geoffrey H. Tofler, Saonli Basu, James G. Wilson, Brendan J. Keating, Lu-Chen Weng, Herman A. Taylor, David R. Jacobs Jr., Joseph A. Delaney, Cameron D. Palmer, Taylor Young, James S. Pankow, Christopher J. O'Donnell, Nicholas L. Smith, Alexander P. Reiner and Aaron R. Folsom

    Article first published online : 1 APR 2015, DOI: 10.1002/ajh.24005

  8. Deregulation of cyclin D2 by juxtaposition with T-cell receptor alpha/delta locus in t(12;14)(p13;q11)-positive childhood T-cell acute lymphoblastic leukemia

    European Journal of Haematology

    Volume 77, Issue 1, July 2006, Pages: 27–34, Kristina Karrman, Anna Andersson, Helga Björgvinsdóttir, Bodil Strömbeck, Carin Lassen, Tor Olofsson, Florence Nguyen-Khac, Roland Berger, Olivier Bernard, Thoas Fioretos and Bertil Johansson

    Article first published online : 17 MAR 2006, DOI: 10.1111/j.0902-4441.2006.t01-1-EJH2553.x

  9. Human-Mouse Comparative Maps

    Appendix

    Current Protocols in Human Genetics

    6:A.6.1–A.6.42

    Michael F. Seldin

    Published Online : 1 MAY 2001, DOI: 10.1002/0471142905.hga06s09

  10. Familial cryptic translocation with del 4q34[RIGHTWARDS ARROW]qter and dup 12pter[RIGHTWARDS ARROW]p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 271–280, Barbara Fritz, Susanne Greber-Platzer, Thomas Frischer, Berthold Streubel, Johann Gröblacher, Gabriele Amann, Pavel Ventruba, Helga Rehder and Christa Fonatsch

    Article first published online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<271::AID-AJMG2>3.0.CO;2-Y

  11. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 1, 15 February 2003, Pages: 65–71, Marcella Zollino, Cesare Colosimo, Orsetta Zuffardi, Elena Rossi, Alessandra Tosolini, Christopher A. Walsh and Giovanni Neri

    Article first published online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10068

  12. A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 136–143, Ryan E. Lamont, JC. Loredo-Osti, Nicole M. Roslin, Jill Mauthe, Gail Coghlan, Edward Nylen, Danielle Frappier, A. Micheil Innes, Edward G. Lemire, R. Brian Lowry, Cheryl R. Greenberg, Barbara L. Triggs-Raine, Kenneth Morgan, Klaus Wrogemann, T. Mary Fujiwara and Teresa Zelinski

    Article first published online : 2 DEC 2004, DOI: 10.1002/ajmg.a.30420

  13. Chromosome 12

    Standard Article

    eLS

    Kate Montgomery and Raju Kucherlapati

    Published Online : 16 APR 2007, DOI: 10.1002/9780470015902.a0005821.pub2

  14. ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events

    Genes, Chromosomes and Cancer

    Volume 51, Issue 4, April 2012, Pages: 328–337, Claudia Haferlach, Ulrike Bacher, Susanne Schnittger, Tamara Alpermann, Melanie Zenger, Wolfgang Kern and Torsten Haferlach

    Article first published online : 8 DEC 2011, DOI: 10.1002/gcc.21918

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    Cyclin D2 promoter disrupted by t(12;22)(p13;q11.2) during transformation of chronic lymphocytic leukaemia to non-Hodgkin's lymphoma

    British Journal of Haematology

    Volume 106, Issue 2, August 1999, Pages: 477–485, L. Qian, J. Gong, J. Liu, J. D. Broome and P. R. K. Koduru

    Article first published online : 5 APR 2002, DOI: 10.1046/j.1365-2141.1999.01549.x

  16. Identification of new translocations involving ETV6 in hematologic malignancies by fluorescence in situ hybridization and spectral karyotyping

    Genes, Chromosomes and Cancer

    Volume 31, Issue 2, June 2001, Pages: 134–142, María D. Odero, Katrin Carlson, María J. Calasanz, Idoya Lahortiga, Vandana Chinwalla and Janet D. Rowley

    Article first published online : 30 MAR 2001, DOI: 10.1002/gcc.1127

  17. Characterization of a t(10;12)(q24;p13) in a case of CML in transformation

    Genes, Chromosomes and Cancer

    Volume 20, Issue 4, December 1997, Pages: 408–411, Ricardo C. T. Aguiar, Andrew Chase, David G. Oscier, Melina Carapeti, John M. Goldman and Nicholas C. P. Cross

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199712)20:4<408::AID-GCC13>3.0.CO;2-I

  18. Acute Leukaemia: Integration of Morphological, Immunophenotypic and Genetic Information and the WHO Classification

    Leukaemia Diagnosis, Fourth Edition

    Barbara J. Bain, Pages: 114–218, 2010

    Published Online : 30 JUN 2010, DOI: 10.1002/9781444318470.ch3

  19. Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 52, Issue 2, February 2013, Pages: 202–213, Halima Al-Shehhi, Zoe J. Konn, Claire J. Schwab, Amy Erhorn, Kerry E. Barber, Sarah L. Wright, Alem S. Gabriel, Christine J. Harrison and Anthony V. Moorman

    Article first published online : 18 OCT 2012, DOI: 10.1002/gcc.22021

  20. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1713–1718, Lucia Margari, Maria Luisa Di Cosola, Maura Buttiglione, Angela Pansini, Antonia Lucia Buonadonna, Francesco Craig, Filomena Cariola, Maria Giuseppina Petruzzelli and Mattia Gentile

    Article first published online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35400