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There are 43377 results for: content related to: Opposing phenotypes in mice with Smith–Magenis deletion and Potocki–Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

  1. Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1561–1568, Melanie Lacaria, Wenli Gu and James R Lupski

    Version of Record online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35941

  2. You have free access to this content
    Structural variation mutagenesis of the human genome: Impact on disease and evolution

    Environmental and Molecular Mutagenesis

    Volume 56, Issue 5, June 2015, Pages: 419–436, James R. Lupski

    Version of Record online : 17 APR 2015, DOI: 10.1002/em.21943

  3. Smith-Magenis Syndrome

    Management of Genetic Syndromes

    Ann C.M. Smith, Andrea Gropman, Pages: 739–768, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch50

  4. Smith-Magenis Syndrome

    Standard Article

    Management of Genetic Syndromes

    Ann C. M. Smith and Andrea Gropman

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs043

  5. Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1382–1391, Eilis A. Boudreau, Kyle P. Johnson, Angela R. Jackman, Jan Blancato, Marjan Huizing, Claude Bendavid, MaryPat Jones, Settara C. Chandrasekharappa, Alfred J. Lewy, Ann C.M. Smith and R. Ellen Magenis

    Version of Record online : 15 JUN 2009, DOI: 10.1002/ajmg.a.32846

  6. Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 999–1008, Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell and Sarah H. Elsea

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31689

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    ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach

    Evolutionary Applications

    Volume 2, Issue 1, February 2009, Pages: 81–100, Bernard Crespi, Kyle Summers and Steve Dorus

    Version of Record online : 7 JAN 2009, DOI: 10.1111/j.1752-4571.2008.00056.x

  8. Sleep disturbance in smith-magenis syndrome (del 17 p11.2)

    American Journal of Medical Genetics

    Volume 81, Issue 2, 28 March 1998, Pages: 186–191, Ann C.M. Smith, Elizabeth Dykens and Frank Greenberg

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980328)81:2<186::AID-AJMG11>3.0.CO;2-D

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    Abilities and attainment in Smith-Magenis syndrome

    Developmental Medicine & Child Neurology

    Volume 43, Issue 12, December 2001, Pages: 823–828, Orlee Udwin and Isobel Horn

    Version of Record online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2001.tb00170.x

  10. Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome

    Journal of Intellectual Disability Research

    Volume 55, Issue 2, February 2011, Pages: 138–151, J. Sloneem, C. Oliver, O. Udwin and K. A. Woodcock

    Version of Record online : 4 JAN 2011, DOI: 10.1111/j.1365-2788.2010.01371.x

  11. Pharmacological treatment of disruptive behavior in Smith–Magenis syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 4, 15 November 2010, Pages: 463–468, Gonzalo Laje, Rebecca Bernert, Rebecca Morse, Maryland Pao and Ann C.M. Smith

    Version of Record online : 27 OCT 2010, DOI: 10.1002/ajmg.c.30282

  12. Autism spectrum disorders: The quest for genetic syndromes

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 327–366, Dimitrios I. Zafeiriou, Athina Ververi, Vaios Dafoulis, Efrosini Kalyva and Euthymia Vargiami

    Version of Record online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32152

  13. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 278–282, Christopher N. Vlangos, Meredith Wilson, Jan Blancato, Ann C.M. Smith and Sarah H. Elsea

    Version of Record online : 7 DEC 2004, DOI: 10.1002/ajmg.a.30461

  14. Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1579–1588, Elaine Suk-Ying Goh, Irene C. Perez, Cesar P. Canales, Phillip Ruiz, Ron Agatep, Grace Yoon, David Chitayat, Yigal Dror, Mary Shago, Sharan Goobie, Michael Sgro, Katherina Walz and Roberto Mendoza-Londono

    Version of Record online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35399

  15. The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes

    Journal of Intellectual Disability Research

    Volume 55, Issue 2, February 2011, Pages: 109–120, K. Arron, C. Oliver, J. Moss, K. Berg and C. Burbidge

    Version of Record online : 26 OCT 2010, DOI: 10.1111/j.1365-2788.2010.01337.x

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    A functional network module for Smith–Magenis syndrome

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 364–374, S Girirajan, HT Truong, CL Blanchard and SH Elsea

    Version of Record online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01135.x

  17. Smith–Magenis Syndrome

    Standard Article

    eLS

    Sarah H Elsea and Brenda Finucane

    Published Online : 15 MAR 2009, DOI: 10.1002/9780470015902.a0021428

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    In this issue

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Page: xii,

    Version of Record online : 18 OCT 2012, DOI: 10.1002/ajmg.a.35725

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    Index

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 925–962, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.index

  20. End-stage renal failure in Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1922–1924, Scott M. Myers, Thomas D. Challman and Glenn H. Bock

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31830