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There are 12139 results for: content related to: Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan

  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

    Article first published online : 14 JUN 2005, DOI: 10.1002/ajmg.a.30483

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    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

    Article first published online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31414

  3. 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

    Article first published online : 13 AUG 2002, DOI: 10.1002/ajmg.10569

  4. Uniparental Disomy

    Standard Article

    eLS

    Albert Schinzel and Alessandra Baumer

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

  5. 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

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

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    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

    Article first published online : 3 JAN 2012, DOI: 10.1042/BC20110013

  7. UPD detection using homozygosity profiling with a SNP genotyping microarray

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 757–768, Peter Papenhausen, Stuart Schwartz, Hiba Risheg, Elisabeth Keitges, Inder Gadi, Rachel D. Burnside, Vikram Jaswaney, John Pappas, Romela Pasion, Kenneth Friedman and James Tepperberg

    Article first published online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33939

  8. Maladaptive behaviors and risk factors among the genetic subtypes of Prader–Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 140–145, Sigan L. Hartley, William E. MacLean Jr, Merlin G. Butler, Jennifer Zarcone and Travis Thompson

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30771

  9. The neuroanatomy of genetic subtype differences in Prader–Willi syndrome

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 2, March 2012, Pages: 243–253, Robyn A. Honea, Laura M. Holsen, Rebecca J. Lepping, Rodrigo Perea, Merlin G. Butler, William M. Brooks and Cary R. Savage

    Article first published online : 12 JAN 2012, DOI: 10.1002/ajmg.b.32022

  10. Evidence for imprinting on chromosome 16: The effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 123–132, P.J. Yong, S.A. Marion, I.J. Barrett, D.K. Kalousek and W.P. Robinson

    Article first published online : 9 JUL 2002, DOI: 10.1002/ajmg.10702

  11. Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes

    Journal of Intellectual Disability Research

    Volume 44, Issue 1, February 2000, Pages: 25–30, E. Roof, W. Stone, W. MacLean, I. D. Feurer, T. Thompson and M. G. Butler

    Article first published online : 24 DEC 2001, DOI: 10.1046/j.1365-2788.2000.00250.x

  12. In search of the psychosis gene in people with Prader-Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 843–853, Tessa Webb, Esther N. Maina, Sarita Soni, Joyce Whittington, Harm Boer, David Clarke and Anthony Holland

    Article first published online : 6 MAR 2008, DOI: 10.1002/ajmg.a.32212

  13. Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations

    American Journal of Medical Genetics

    Volume 111, Issue 4, 1 September 2002, Pages: 362–365, Sue Ann Berend, Bassem A. Bejjani, Christopher McCaskill and Lisa G. Shaffer

    Article first published online : 26 JUN 2002, DOI: 10.1002/ajmg.10566

  14. Structure Relationships in Electrochemical Reactions

    Standard Article

    Encyclopedia of Electrochemistry

    C. A. Lucas and N. M. Marković

    Published Online : 15 DEC 2007, DOI: 10.1002/9783527610426.bard020401

  15. Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader–Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1477–1480, Yuji Oto, Kazuo Obata, Keiko Matsubara, Yuki Kozu, Takayoshi Tsuchiya, Satoru Sakazume, Atsunori Yoshino, Nobuyuki Murakami, Tsutomu Ogata and Toshiro Nagai

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35378

  16. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype

    Journal of Child Psychology and Psychiatry

    Volume 46, Issue 10, October 2005, Pages: 1089–1096, Katja M. Milner, Ellen E. Craig, Russell J. Thompson, Marijcke W.M. Veltman, N. Simon Thomas, Sian Roberts, Margaret Bellamy, Sarah R. Curran, Caroline M.J. Sporikou and Patrick F. Bolton

    Article first published online : 22 SEP 2005, DOI: 10.1111/j.1469-7610.2005.01520.x

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    Genome-wide expression profiling in the Drosophila eye reveals unexpected repression of notch signaling by the JAK/STAT pathway

    Developmental Dynamics

    Volume 238, Issue 9, September 2009, Pages: 2235–2253, Maria Sol Flaherty, Jiri Zavadil, Laura A. Ekas and Erika A. Bach

    Article first published online : 4 JUN 2009, DOI: 10.1002/dvdy.21989

  18. Heat Effects upon Electrochemical Copper Deposition on Polycrystalline Gold

    ChemPhysChem

    Volume 11, Issue 7, May 17, 2010, Pages: 1416–1424, Kai D. Etzel, Katrin R. Bickel and Rolf Schuster

    Article first published online : 9 MAR 2010, DOI: 10.1002/cphc.200900981

  19. 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

    Article first published online : 11 OCT 2010, DOI: 10.1111/j.1399-0004.2010.01547.x

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    Prenatal testing for uniparental disomy: indications and clinical relevance

    Ultrasound in Obstetrics & Gynecology

    Volume 31, Issue 1, January 2008, Pages: 100–105, D. Kotzot

    Article first published online : 5 DEC 2007, DOI: 10.1002/uog.5133