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There are 8922 results for: content related to: Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

  1. Opposing phenotypes in mice with Smith–Magenis deletion and Potocki–Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2807–2814, Detlef H. Heck, Wenli Gu, Ying Cao, Shuhua Qi, Melanie Lacaria and James R. Lupski

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35601

  2. 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

  3. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  4. 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

  5. Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 500–504, Pilar L. Magoulas, Pengfei Liu, Violet Gelowani, Claudia Soler-Alfonso, Emma C. Kivuva, James R. Lupski and Lorraine Potocki

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36287

  6. Potocki–Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 367–371, Roman Yusupov, Amy E. Roberts, Ronald V. Lacro, Mary Sandstrom and Azra H. Ligon

    Version of Record online : 26 JAN 2011, DOI: 10.1002/ajmg.a.33845

  7. 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

  8. 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

  9. You have free access to this content
    The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 363–366, Amarilis Sanchez-Valle, Mary Ella Pierpont and Lorraine Potocki

    Version of Record online : 13 JAN 2011, DOI: 10.1002/ajmg.a.33844

  10. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 917–924, Martine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, Corinne Magdelaine, Marie-Claire Vincent, Maroun Khoury, Joris Andrieux, Feng Zhang, James R. Lupski, Rabih Klink, Anouck Schneider, Odile Goze-Martineau, Jean-Marie Cuisset, Louis Vallee, Sylvie Manouvrier-Hanu, Dominique Gaillard and Bérengère de Martinville

    Version of Record online : 7 MAR 2008, DOI: 10.1002/ajmg.a.32195

  11. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 175–180, Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski and Lorraine Potocki

    Version of Record online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30948

  12. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2454–2463, Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea and James R. Lupski

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31510

  13. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  14. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: Delineating novel loci for apraxia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 887–893, Jillene M. Kogan, Erin Miller and Stephanie M. Ware

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32750

  15. 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

  16. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 636–643, Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, Elina R. Manghi, Marcela Esquivel, Silvia Monge, Marietha Fallas, Barbara K. Burton, Barbara Szomju, Sarah H. Elsea, Christian R. Marshall, Stephen W. Scherer and L. Alison McInnes

    Version of Record online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31636

  17. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

    American Journal of Medical Genetics

    Volume 87, Issue 4, 3 December 1999, Pages: 342–348, Sarah H. Elsea, Kirk Mykytyn, Katherine Ferrell, Kathryn L. Coulter, Parimal Das, Wolfgang Dubiel, Pragna I. Patel and James E. Metherall

    Version of Record online : 7 DEC 1999, DOI: 10.1002/(SICI)1096-8628(19991203)87:4<342::AID-AJMG12>3.0.CO;2-A

  18. A girl with duplication 17p10-p12 associated with a dicentric chromosome

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 173–178, Christine J. Shaw, Pawel Stankiewicz, John Christodoulou, Ellie Smith, Kristi Jones and James R. Lupski

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20355

  19. Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

    American Journal of Medical Genetics

    Volume 81, Issue 2, 28 March 1998, Pages: 179–185, 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<179::AID-AJMG10>3.0.CO;2-E

  20. Congenital heart defects associated with Smith–Magenis syndrome: Two cases of total anomalous pulmonary venous return

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 1, 15 November 2004, Pages: 99–100, Scott M. Myers and Thomas D. Challman

    Version of Record online : 21 SEP 2004, DOI: 10.1002/ajmg.a.30290