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There are 17959 results for: content related to: Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

  1. Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 287–305, Dieter Kotzot and Gerd Utermann

    Version of Record online : 14 JUN 2005, DOI: 10.1002/ajmg.a.30483

  2. Uniparental Disomy for Individual Human Chromosomes: Review of Cases

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 49–132, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch4

  3. Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia

    Clinical Genetics

    Volume 78, Issue 6, December 2010, Pages: 580–584, S Suzuki, D Fujisawa, K Hashimoto, T Asano, M Maimaiti, K Matsuo, Y Tanahashi, T Mukai and K Fujieda

    Version of Record online : 2 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01433.x

  4. “Old” and “New” Syndromes with Uniparental Disomy

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 133–162, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch5

  5. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 622–629, Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Jannière, Elena Rizzardi, Qiuping Zhang, Catherine M. Shanahan, Louis Viollet, Stanislas Lyonnet, Laurent Abel, Ezia Maria Ruga and Jean-Laurent Casanova

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33291

  6. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

    American Journal of Medical Genetics

    Volume 82, Issue 3, 29 January 1999, Pages: 265–274, Dieter Kotzot

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6

  7. You have free access to this content
    The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

    Biology of the Cell

    Volume 103, Issue 7, July 2011, Pages: 303–317, Pablo Lapunzina and David Monk

    Version of Record online : 3 JAN 2012, DOI: 10.1042/BC20110013

  8. Genetic Counseling and Prenatal Diagnosis

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 227–242, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch9

  9. You have free access to this content
    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2039–2049, Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike Angelika Mau-Holzmann, Eva-Christina Prott, Dagmar Wieczorek and Gabriele Gillessen-Kaesbach

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31414

  10. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

    American Journal of Medical Genetics

    Volume 111, Issue 4, 1 September 2002, Pages: 366–375, Dieter Kotzot

    Version of Record online : 13 AUG 2002, DOI: 10.1002/ajmg.10569

  11. Uniparental Disomy

    Standard Article

    eLS

    Albert Schinzel and Alessandra Baumer

    Published Online : 15 APR 2011, DOI: 10.1002/9780470015902.a0005479.pub2

  12. CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 118–124, AJ Dawson, J Chernos, J McGowan-Jordan, J Lavoie, S Shetty, M Steinraths, J-C Wang and J Xu

    Version of Record online : 11 OCT 2010, DOI: 10.1111/j.1399-0004.2010.01547.x

  13. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2165–2171, Joerg Mattes, Bruce Whitehead, Thomas Liehr, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts and Matthew Edwards

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31896

  14. Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature

    American Journal of Medical Genetics

    Volume 79, Issue 5, 12 October 1998, Pages: 366–372, Lisa G. Shaffer, Christopher McCaskill, Kenneth Adkins and Terry J. Hassold

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H

  15. Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes

    Diabetic Medicine

    Volume 32, Issue 7, July 2015, Pages: 963–967, T. Yorifuji, K. Matsubara, A. Sakakibara, Y. Hashimoto, R. Kawakita, Y. Hosokawa, R. Fujimaru, A. Murakami, N. Tamagawa, K. Hatake, H. Nagasaka, J. Suzuki, T. Urakami, M. Izawa and M. Kagami

    Version of Record online : 11 APR 2015, DOI: 10.1111/dme.12758

  16. Introduction

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 1–12, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch1

  17. Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

    American Journal of Medical Genetics

    Volume 40, Issue 4, 15 September 1991, Pages: 432–439, Professor Eric Engel and C. Dawn DeLozier-Blanchet

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320400411

  18. Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 167–171, Cathy Chu, Stuart Schwartz and Elizabeth McPherson

    Version of Record online : 19 DEC 2003, DOI: 10.1002/ajmg.a.20618

  19. HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases

    Tissue Antigens

    Volume 56, Issue 3, September 2000, Pages: 217–222, E. Marquis, I. Le Monnier de Gouville, C. Bouvattier, J.J. Robert, C. Junien, D. Charron, J. Hors and C. Diatloff-Zito

    Version of Record online : 25 DEC 2001, DOI: 10.1034/j.1399-0039.2000.560303.x

  20. Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 1, 1 April 2003, Pages: 60–63, Karl Y. Bilimoria and Jeffrey M. Rothenberg

    Version of Record online : 26 DEC 2002, DOI: 10.1002/ajmg.a.10101