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There are 37552 results for: content related to: A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

  1. Recurrent HERV-H-Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1415–1423, Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E. Wallace, Mark C. Hannibal, Michael F. Murray, Monica A. Giovanni, Deborah Terespolsky, Sandi Sodhi, Matteo Cassina, David Viskochil, Billur Moghaddam, Kristin Herman, Chester W. Brown, Christine R. Beck, Anna Gambin, Sau Wai Cheung, Ankita Patel, Allen N. Lamb, Lisa G. Shaffer, Jay W. Ellison, J. Britt Ravnan, Paweł Stankiewicz and Jill A. Rosenfeld

    Version of Record online : 13 AUG 2013, DOI: 10.1002/humu.22384

  2. Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 666–670, Emmanouil Karavitakis, Sofia Kitsiou-Tzeli, Athena Xaidara, Konstantina Kosma, Periklis Makrythanasis, Eleni Apazidou, Emmanuel Kanavakis and Maria Tzetis

    Version of Record online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36346

  3. A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 1, 1 April 2004, Pages: 46–60, Sheila Youings, Katrina Ellis, Sarah Ennis, John Barber and Patricia Jacobs

    Version of Record online : 23 DEC 2003, DOI: 10.1002/ajmg.a.20553

  4. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 165–179, Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

    Version of Record online : 2 NOV 2011, DOI: 10.1002/humu.21614

  5. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 13, 1 July 2007, Pages: 1431–1441, Swaroop Aradhya, Melanie A. Manning, Alessandra Splendore and Athena M. Cherry

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31773

  6. You have free access to this content
    Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 120, Issue 5, April 2013, Pages: 594–606, D Ganesamoorthy, DL Bruno, G McGillivray, F Norris, SM White, S Adroub, DJ Amor, A Yeung, R Oertel, MD Pertile, C Ngo, AR Arvaj, S Walker, P Charan, R Palma-Dias, N Woodrow and HR Slater

    Version of Record online : 18 JAN 2013, DOI: 10.1111/1471-0528.12150

  7. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2664–2673, Kacie N. Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis and M. Katharine Rudd

    Version of Record online : 31 JUL 2015, DOI: 10.1002/ajmg.a.37269

  8. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories

    American Journal of Medical Genetics

    Volume 33, Issue 1, May 1989, Pages: 14–53, Dr. Art Daniel, Ernest B. Hook and Gary Wulf

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320330105

  9. Copy number variations in three children with sudden infant death

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 63–68, GA Toruner, R Kurvathi, R Sugalski, L Shulman, S Twersky, PG Pearson, R Tozzi, MN Schwalb and R Wallerstein

    Version of Record online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01161.x

  10. Analysis of colorectal tumor progression by microdissection and comparative genomic hybridization

    Genes, Chromosomes and Cancer

    Volume 37, Issue 4, August 2003, Pages: 369–380, Helen E. Alcock, Timothy J. Stephenson, Janice A. Royds and David W. Hammond

    Version of Record online : 7 MAY 2003, DOI: 10.1002/gcc.10201

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    Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease

    Ultrasound in Obstetrics & Gynecology

    Volume 43, Issue 4, April 2014, Pages: 404–412, Y. Yan, Q. Wu, L. Zhang, X. Wang, S. Dan, D. Deng, L. Sun, L. Yao, Y. Ma and L. Wang

    Version of Record online : 2 APR 2014, DOI: 10.1002/uog.13236

  12. You have free access to this content
    Identification of novel regions of amplification and deletion within mantle cell lymphoma DNA by comparative genomic hybridization

    British Journal of Haematology

    Volume 116, Issue 2, February 2002, Pages: 291–298, Jeannette E. Allen, Rachael E. Hough, John R. Goepel, Sarah Bottomley, Gill A. Wilson, Helen E. Alcock, Margaret Baird, Paul C. Lorigan, Elisabeth A. Vandenberghe, Barry W. Hancock and David W. Hammond

    Version of Record online : 1 FEB 2002, DOI: 10.1046/j.1365-2141.2002.03260.x

  13. You have free access to this content
    The Human Obesity Gene Map: The 2004 Update

    Obesity Research

    Volume 13, Issue 3, March 2005, Pages: 381–490, Louis Pérusse, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Eric E. Snyder and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2005.50

  14. You have free access to this content
    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

  15. Delineation of the proximal 3q microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1729–1735, Marcia J. Simovich, Steven D. Bland, Daniel A. Peiffer, Kevin L. Gunderson, Sau Wai Cheung, Svetlana A. Yatsenko and Marwan Shinawi

    Version of Record online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32292

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    Poster Abstracts of the ISPD 21st International Conference on Prenatal Diagnosis and Therapy, San Diego, California, USA, 9-12 July 2017

    Prenatal Diagnosis

    Volume 37, Issue S1, July 2017, Pages: 21–105,

    Version of Record online : 5 JUL 2017, DOI: 10.1002/pd.5085

  17. Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2984–2987, Ping-Yee Billie Au, Judy E. Chernos and Mary Ann Thomas

    Version of Record online : 19 AUG 2016, DOI: 10.1002/ajmg.a.37695

  18. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

    Clinical Genetics

    Volume 81, Issue 3, March 2012, Pages: 257–264, HE Yu, K Hawash, J Picker, J Stoler, D Urion, B-L Wu and Y Shen

    Version of Record online : 7 FEB 2011, DOI: 10.1111/j.1399-0004.2011.01637.x

  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. OEIS complex with del(3)(q12.2q13.2)

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 2, 1 June 2005, Pages: 224–226, Rika Kosaki, Yasuyuki Fukuhara, Motomichi Kosuga, Torayuki Okuyama, Noriko Kawashima, Toshiro Honna, Katsuhiko Ueoka and Kenjiro Kosaki

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30733