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There are 28986 results for: content related to: 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility

  1. 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

    Version of Record online : 18 AUG 2003, DOI: 10.1002/ajmg.a.20450

  2. 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

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

  3. 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

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

  4. 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

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10068

  5. You have free access to this content
    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

    Version of Record online : 1 AUG 2005, DOI: 10.1002/ajmg.a.30857

  6. Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients

    Genes, Chromosomes and Cancer

    Volume 56, Issue 10, October 2017, Pages: 730–749, Tracy M. Busse, Jacquelyn J. Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke and Jaclyn A. Biegel

    Version of Record online : 1 JUL 2017, DOI: 10.1002/gcc.22477

  7. 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

    Version of Record online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35400

  8. 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

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

  9. The Human Gene Map 15 April 1986: The Morbid Anatomy of the Human Genome

    Clinical Genetics

    Volume 29, Issue 6, June 1986, Pages: 545–588, Victor A. McKusick

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb00562.x

  10. 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

    Version of Record online : 4 AUG 2009, DOI: 10.1002/path.2609

  11. Loss of heterozygosity at 7q31.1 and 12p13-12 in advanced prostate cancer

    The Prostate

    Volume 53, Issue 1, 15 September 2002, Pages: 60–64, Yoko Kawana, Tomohiko Ichikawa, Hiroyoshi Suzuki, Takeshi Ueda, Akira Komiya, Yayoi Ichikawa, Yuzo Furuya, Koichiro Akakura, Tatsuo Igarashi and Haruo Ito

    Version of Record online : 1 AUG 2002, DOI: 10.1002/pros.10131

  12. 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

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

  13. 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

    Version of Record online : 18 OCT 2012, DOI: 10.1002/gcc.22021

  14. You have free access to this content
    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

    Version of Record online : 1 APR 2015, DOI: 10.1002/ajh.24005

  15. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2723–2730, Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera and Carlos A. Bacino

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33112

  16. Primary effusion lymphoma: genomic profiling revealed amplification of SELPLG and CORO1C encoding for proteins important for cell migration

    The Journal of Pathology

    Volume 222, Issue 2, October 2010, Pages: 166–179, Shi-Lu Luan, Emmanuelle Boulanger, Hongtao Ye, Estelle Chanudet, Nicola Johnson, Rifat A Hamoudi, Chris M Bacon, Hongxiang Liu, Yuanxue Huang, Jonathan Said, Peiguo Chu, Christoph S Clemen, Ethel Cesarman, Amy Chadburn, Peter G Isaacson and Ming-Qing Du

    Version of Record online : 12 JUL 2010, DOI: 10.1002/path.2752

  17. Subtelomeric deletion of 12p: Description of a third case and review

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1561–1566, A.H. MacDonald, L. Rodríguez, I. Aceña, M.L. Martínez-Fernández, D. Sánchez-Izquierdo, E. Zuazo and M.L. Martínez-Frías

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33401

  18. 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

  19. Identification of new partner chromosomes involved in fusions with the ETV6 (TEL) gene in hematologic malignancies

    Genes, Chromosomes and Cancer

    Volume 21, Issue 3, March 1998, Pages: 223–229, Sabrina Tosi, Giovanni Giudici, Giuliana Mosna, Jochen Harbott, Giorgina Specchia, Gerard Grosveld, Enrica Privitera, Lyndal Kearney, Andrea Biondi and Giovanni Cazzaniga

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199803)21:3<223::AID-GCC6>3.0.CO;2-1

  20. Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk

    European Journal of Neurology

    Volume 22, Issue 8, August 2015, Pages: 1235–1241, A. M. Harriott, M. G. Heckman, S. Rayaprolu, A. I. Soto-Ortolaza, N. N. Diehl, T. Kanekiyo, C.-C. Liu, G. Bu, R. Malik, for the METASTROKE Consortium, J. W. Cole, J. F. Meschia and O. A. Ross

    Version of Record online : 29 MAY 2015, DOI: 10.1111/ene.12735