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There are 10644 results for: content related to: The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

  1. Can genome array screening replace FISH as a front-line test in multiple myeloma?

    Genes, Chromosomes and Cancer

    Volume 53, Issue 8, August 2014, Pages: 676–692, Temenushka Boneva, Diana Brazma, Katya Gancheva, Julie Howard-Reeves, Julian Raynov, Colin Grace and Elisabeth P Nacheva

    Version of Record online : 23 APR 2014, DOI: 10.1002/gcc.22178

  2. You have free access to this content
    Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome

    British Journal of Haematology

    Volume 142, Issue 6, September 2008, Pages: 934–945, Ken C. Lo, Jane Chalker, Sabine Strehl, Michael Neat, Owen Smith, Nicole Dastugue, Lyndal Kearney, Shai Izraeli, Helena Kempski and John K. Cowell

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-2141.2008.07280.x

  3. Genome Wide Copy Number Abnormalities in Pediatric Medulloblastomas as Assessed by Array Comparative Genome Hybridization

    Brain Pathology

    Volume 17, Issue 3, July 2007, Pages: 282–296, Ken C. Lo, Michael R. Rossi, Charles G. Eberhart and John K. Cowell

    Version of Record online : 23 APR 2007, DOI: 10.1111/j.1750-3639.2007.00072.x

  4. You have full text access to this OnlineOpen article
    Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia

    Genes, Chromosomes and Cancer

    Volume 54, Issue 11, November 2015, Pages: 668–680, Itziar Salaverria, David Martín-Garcia, Cristina López, Guillem Clot, Manel García-Aragonés, Alba Navarro, Julio Delgado, Tycho Baumann, Magda Pinyol, Idoia Martin-Guerrero, Ana Carrió, Dolors Costa, Ana C. Queirós, Sandrine Jayne, Marta Aymerich, Neus Villamor, Dolors Colomer, Marcos González, Armando López-Guillermo, Elías Campo, Martin J. S. Dyer, Reiner Siebert, Lluís Armengol and Sílvia Beà

    Version of Record online : 25 AUG 2015, DOI: 10.1002/gcc.22277

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    Aggression in non-human vertebrates: Genetic mechanisms and molecular pathways

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 171, Issue 5, July 2016, Pages: 603–640, Florian Freudenberg, Hector Carreño Gutierrez, Antonia M. Post, Andreas Reif and William H. J. Norton

    Version of Record online : 18 AUG 2015, DOI: 10.1002/ajmg.b.32358

  6. Array CGH analysis of pediatric medulloblastomas

    Genes, Chromosomes and Cancer

    Volume 45, Issue 3, March 2006, Pages: 290–303, Michael R. Rossi, Jeffrey Conroy, Devin McQuaid, Norma J. Nowak, James T. Rutka and John K. Cowell

    Version of Record online : 30 NOV 2005, DOI: 10.1002/gcc.20292

  7. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1453–1458, Sabrina Classen, Timm Goecke, Matthias Drechsler, Beate Betz, Natalie Nickel, Manfred Beier, Jörg Schaper, Michael Karenfort and Brigitte Royer-Pokora

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35904

  8. Melatonin regulates proteomic changes during leaf senescence in Malus hupehensis

    Journal of Pineal Research

    Volume 57, Issue 3, October 2014, Pages: 291–307, Ping Wang, Xun Sun, Yinpeng Xie, Mingjun Li, Wei Chen, Sheng Zhang, Dong Liang and Fengwang Ma

    Version of Record online : 12 SEP 2014, DOI: 10.1111/jpi.12169

  9. Candidate glioblastoma development gene identification using concordance between copy number abnormalities and gene expression level changes

    Genes, Chromosomes and Cancer

    Volume 46, Issue 10, October 2007, Pages: 875–894, Ken C. Lo, Michael R. Rossi, Jeffrey LaDuca, David G. Hicks, Yaron Turpaz, Lesleyann Hawthorn and John K. Cowell

    Version of Record online : 9 JUL 2007, DOI: 10.1002/gcc.20474

  10. Somatic mutations in the notch, NF-KB, PIK3CA, and hedgehog pathways in human breast cancers

    Genes, Chromosomes and Cancer

    Volume 51, Issue 5, May 2012, Pages: 480–489, Xiang Jiao, Laura D. Wood, Monica Lindman, Sian Jones, Phillip Buckhaults, Kornelia Polyak, Saraswati Sukumar, Hannah Carter, Dewey Kim, Rachel Karchin and Tobias Sjöblom

    Version of Record online : 3 FEB 2012, DOI: 10.1002/gcc.21935

  11. Fine mapping of Co, a gene controlling columnar growth habit located on apple (Malus×domestica Borkh.) linkage group 10

    Plant Breeding

    Volume 131, Issue 5, October 2012, Pages: 641–647, Shigeki Moriya, Kazuma Okada, Takashi Haji, Toshiya Yamamoto and Kazuyuki Abe

    Version of Record online : 22 JUN 2012, DOI: 10.1111/j.1439-0523.2012.01985.x

  12. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2887–2891, Kathryn Anne Mooneyham, Kenton R. Holden, Sara Cathey, Alka Dwivedi, Barbara R. Dupont and Michael J. Lyons

    Version of Record online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36708

  13. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 180–192, Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie, Valtteri Wirta, Max Käller, Francesco Vezzi, James R Lupski, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Claudia M. B. Carvalho and Anna Lindstrand

    Version of Record online : 5 DEC 2016, DOI: 10.1002/humu.23146

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    Frequent silencing of a putative tumor suppressor gene melatonin receptor 1 A (MTNR1A) in oral squamous-cell carcinoma

    Cancer Science

    Volume 99, Issue 7, July 2008, Pages: 1390–1400, Erina Nakamura, Ken-ichi Kozaki, Hitoshi Tsuda, Emina Suzuki, Atiphan Pimkhaokham, Gou Yamamoto, Tarou Irie, Tetsuhiko Tachikawa, Teruo Amagasa, Johji Inazawa and Issei Imoto

    Version of Record online : 30 APR 2008, DOI: 10.1111/j.1349-7006.2008.00838.x

  15. Dynamic QTL mapping for plant height in Upland cotton (Gossypium hirsutum)

    Plant Breeding

    Volume 134, Issue 6, December 2015, Pages: 703–712, Lianguang Shang, Fang Liu, Yumei Wang, Abdugheni Abduweli, Shihu Cai, Kunbo Wang and Jinping Hua

    Version of Record online : 26 OCT 2015, DOI: 10.1111/pbr.12316

  16. Copy number variation plays an important role in clinical epilepsy

    Annals of Neurology

    Volume 75, Issue 6, June 2014, Pages: 943–958, Heather Olson, Yiping Shen, Jennifer Avallone, Beth R. Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Eksioglu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton, Tobias Loddenkemper, Jennifer Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet Soul, Joan M. Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R. Torres, Peter Tsai, David K. Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T. Miller and Annapurna Poduri

    Version of Record online : 13 JUN 2014, DOI: 10.1002/ana.24178

  17. Clonal evolution of high-grade serous ovarian carcinoma from primary to recurrent disease

    The Journal of Pathology

    Volume 229, Issue 4, March 2013, Pages: 515–524, Mauro Castellarin, Katy Milne, Thomas Zeng, Kane Tse, Michael Mayo, Yongjun Zhao, John R Webb, Peter H Watson, Brad H Nelson and Robert A Holt

    Version of Record online : 29 NOV 2012, DOI: 10.1002/path.4105

  18. You have full text access to this OnlineOpen article
    Burkholderia genome mining for nonribosomal peptide synthetases reveals a great potential for novel siderophores and lipopeptides synthesis

    MicrobiologyOpen

    Volume 5, Issue 3, June 2016, Pages: 512–526, Qassim Esmaeel, Maude Pupin, Nam Phuong Kieu, Gabrielle Chataigné, Max Béchet, Jovana Deravel, François Krier, Monica Höfte, Philippe Jacques and Valérie Leclère

    Version of Record online : 5 APR 2016, DOI: 10.1002/mbo3.347

  19. Detailed deletion mapping in sporadic breast cancer at chromosomal region 17p13 distal to the TP53 gene: association with clinicopathological parameters

    The Journal of Pathology

    Volume 194, Issue 3, July 2001, Pages: 318–326, Susanne Seitz, Konstanze Poppe, Jörg Fischer, Anita Nothnagel, Lope Estévez-Schwarz, Wolfgang Haensch, Peter M. Schlag and Siegfried Scherneck

    Version of Record online : 29 JUN 2001, DOI: 10.1002/1096-9896(200107)194:3<318::AID-PATH881>3.0.CO;2-4

  20. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

    American Journal of Medical Genetics Part A

    Volume 173, Issue 8, August 2017, Pages: 2176–2188, Neil A. Hanchard, Luis A. Umana, Lisa D'Alessandro, Mahshid Azamian, Mojisola Poopola, Shaine A. Morris, Susan Fernbach, Seema R. Lalani, Jeffrey A. Towbin, Gloria A. Zender, Sara Fitzgerald-Butt, Vidu Garg, Jessica Bowman, Gladys Zapata, Patricia Hernandez, Cammon B. Arrington, Dieter Furthner, Siddharth K. Prakash, Neil E. Bowles, Kim L. McBride and John W. Belmont

    Version of Record online : 27 JUN 2017, DOI: 10.1002/ajmg.a.38309