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There are 314240 results for: content related to: Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis

  1. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1[RIGHTWARDS ARROW]qter) and partial monosomy 20q (20q13.3[RIGHTWARDS ARROW]qter)

    Prenatal Diagnosis

    Volume 25, Issue 2, February 2005, Pages: 112–118, Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, Yueh-Chun Li, Schu-Rern Chern, Wei-Min Chen, Chen-Chi Lee, Lie-Jiau Hsieh and Wayseen Wang

    Article first published online : 11 FEB 2005, DOI: 10.1002/pd.1083

  2. Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 15, 1 August 2006, Pages: 1696–1706, Ying S. Zou, Daniel L. Van Dyke, Erik C. Thorland, Harinderpal S. Chhabra, Virginia V. Michels, Jeannette G. Keefe, Melanie A. Lega, Molly A. Feely, Timothy S. Uphoff and Syed M. Jalal

    Article first published online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31332

  3. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 17, 1 September 2006, Pages: 1859–1863, P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, D. Sanlaville, P. Gosset, M. Prieur, M. Labenne, F. Huet and F. Mugneret

    Article first published online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31395

  4. 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

    Article first published online : 19 JUL 2010, DOI: 10.1002/gcc.20806

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    Trisomy 20q13 [RIGHTWARDS ARROW] 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 308–312, Dorothy K. Grange, Jaime Garcia-Heras, Ramzi A. Kilani and Stephen Lamp

    Article first published online : 9 AUG 2005, DOI: 10.1002/ajmg.a.30877

  6. Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 373–382, Cheryl DeScipio, Jennifer D. Morrissette, Laura K. Conlin, Dinah Clark, Maninder Kaur, James Coplan, Harold Riethman, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33219

  7. 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

    Article first published online : 21 JAN 2010, DOI: 10.1002/gcc.20748

  8. 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

    Article first published online : 2 APR 2008, DOI: 10.1002/ajmg.a.32278

  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

    Article first published online : 27 MAY 2008, DOI: 10.1002/gcc.20577

  10. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 352–363, Amy E. Roberts, Gerald F. Cox, Virginia Kimonis, Allen Lamb and Mira Irons

    Article first published online : 6 JUL 2004, DOI: 10.1002/ajmg.a.30142

  11. Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 429–433, Dagmar Wieczorek, Oliver Bartsch and Gabriele Gillessen-Kaesbach

    Article first published online : 11 MAR 2003, DOI: 10.1002/ajmg.a.20060

  12. Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings

    Pediatrics International

    Volume 52, Issue 3, June 2010, Pages: 492–495, Bao-Tyan Wang, Morteza Hemmat, Parul Jayakar, Fatih Boyar, Patricia Chan, Mohamed El Naggar and Arturo Anguiano

    Article first published online : 14 JUN 2010, DOI: 10.1111/j.1442-200X.2010.03041.x

  13. Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3075–3081, Anja Hagen, Arndt Bigl, Dorothea Wand, Eva Klopocki, Raoul Heller, Manuela Siekmeyer, Werner Siekmeyer, Wieland Kiess and Andreas Merkenschlager

    Article first published online : 3 NOV 2011, DOI: 10.1002/ajmg.a.34300

  14. Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 412–416, Felipe Marques, Romina Heredia, Claudiner de Oliveira, Maria Terezinha Cardoso, Juliana Mazzeu and Robert Pogue

    Article first published online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36844

  15. 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

    Article first published online : 13 JUL 2007, DOI: 10.1002/ajmg.a.31844

  16. Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): Report of a new patient and review of the literature

    American Journal of Medical Genetics

    Volume 111, Issue 1, 22 July 2002, Pages: 71–75, Pamela L. Plotner, Janice L. Smith and Hope Northrup

    Article first published online : 17 MAY 2002, DOI: 10.1002/ajmg.10420

  17. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 464–471, N. Guediche, S. Brisset, J.-J. Benichou, N. Guérin, P. Mabboux, M.-L. Maurin, C. Bas, M. Laroudie, O. Picone, D. Goldszmidt, S. Prévot, P. Labrune and G. Tachdjian

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33250

  18. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1488–1497, Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein and Grazia M.S. Mancini

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33408

  19. 20q11.1 amplification in giant-cell tumor of bone: Array CGH, FISH, and association with outcome

    Genes, Chromosomes and Cancer

    Volume 45, Issue 10, October 2006, Pages: 957–966, Laura T. Smith, Joel Mayerson, Norma J. Nowak, David Suster, Nehad Mohammed, Susan Long, Herbert Auer, Susie Jones, Christina McKeegan, Gregory Young, Gary Bos, Christoph Plass and Carl Morrison

    Article first published online : 17 JUL 2006, DOI: 10.1002/gcc.20354

  20. Amplification and overexpression of Aurora kinase A (AURKA) in immortalized human ovarian epithelial (HOSE) cells

    Molecular Carcinogenesis

    Volume 43, Issue 3, July 2005, Pages: 165–174, C.M. Chung, C. Man, Y. Jin, C. Jin, X.Y. Guan, Q. Wang, T.S.K. Wan, A.L.M. Cheung and S.W. Tsao

    Article first published online : 3 MAY 2005, DOI: 10.1002/mc.20098