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There are 7094 results for: content related to: Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array

  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. 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

  4. 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

  5. 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

  6. 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

  7. Sex-specific chromosome instability in early human development

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 401–413, Natalia V. Kovaleva

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30815

  8. 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

  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. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

    American Journal of Medical Genetics

    Volume 95, Issue 5, 18 December 2000, Pages: 454–460, Claudia Ginsburg, Siv Fokstuen and Albert Schinzel

    Version of Record online : 2 JAN 2001, DOI: 10.1002/1096-8628(20001218)95:5<454::AID-AJMG9>3.0.CO;2-O

  11. “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

  12. 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

  13. Interpretation of molecular results in segmental uniparental disomy

    Hepatology Research

    Volume 42, Issue 11, November 2012, Pages: 1150–1153, Edda Haberlandt and Dieter Kotzot

    Version of Record online : 25 OCT 2012, DOI: 10.1111/j.1872-034X.2012.01041.x

  14. Zellweger syndrome resulting from maternal isodisomy of chromosome 1

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2172–2177, Claire L.S. Turner, David J. Bunyan, N. Simon Thomas, Deborah J.G. Mackay, Huw P. Jones, Hans R. Waterham, Ronald J.A. Wanders and I. Karen Temple

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31912

  15. 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

  16. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

    American Journal of Medical Genetics

    Volume 99, Issue 3, 15 March 2001, Pages: 223–233, Britt-Marie Anderlid, Sigrid Sahlén, Jacqueline Schoumans, Eva Holmberg, Ingegerd Åhsgren, Geert Mortier, Frank Speleman and Elisabeth Blennow

    Version of Record online : 9 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1146>3.0.CO;2-W

  17. Uniparental disomy in congenital disorders: A prospective study

    American Journal of Medical Genetics

    Volume 58, Issue 2, 28 August 1995, Pages: 143–146, Dr. Noralane M. Lindor, Pamela S. Karnes, Virginia V. Michels, Gordon W. Dewald, Jean Goerss, Syed Jalal, Robert B. Jenkins, Gerard Vockley and Stephen N. Thibodeau

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320580210

  18. Uniparental disomy and genomic imprinting as causes of human genetic disease

    Environmental and Molecular Mutagenesis

    Volume 25, Issue S2, 1995, Pages: 13–20, Suzanne B. Cassidy

    Version of Record online : 14 JUL 2006, DOI: 10.1002/em.2850250605

  19. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)

    American Journal of Medical Genetics

    Volume 57, Issue 1, 22 May 1995, Pages: 14–18, R. Stallard, S. Kruegor, R. S. James and S. Schwartz

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320570105

  20. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 381–387, V. Reid Sutton and Lisa G. Shaffer

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9