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There are 8743 results for: content related to: Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

  1. 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

  2. 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

    Article first published online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35601

  3. 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

  4. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  5. 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

    Article first published online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32152

  6. 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

    Article first published online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31830

  7. 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

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36287

  8. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  9. 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

    Article first published online : 26 JAN 2011, DOI: 10.1002/ajmg.a.33845

  10. 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

    Article first published online : 17 APR 2015, DOI: 10.1002/em.21943

  11. You have full text access to this Open Access content
    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

    Article first published online : 7 JAN 2009, DOI: 10.1111/j.1752-4571.2008.00056.x

  12. 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

    Article first published online : 13 JAN 2011, DOI: 10.1002/ajmg.a.33844

  13. 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

    Article first published online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35941

  14. 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

    Article first published online : 7 MAR 2008, DOI: 10.1002/ajmg.a.32195

  15. 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

    Article first published online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31636

  16. Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

    American Journal of Medical Genetics Part A

    Volume 155, Issue 8, August 2011, Pages: 2024–2027, Philip M. Boone, Russel J. Reiter, Daniel G. Glaze, Dun-Xian Tan, James R. Lupski and Lorraine Potocki

    Article first published online : 7 JUL 2011, DOI: 10.1002/ajmg.a.34098

  17. 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

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31510

  18. 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

    Article first published online : 21 SEP 2004, DOI: 10.1002/ajmg.a.30290

  19. 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

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32750

  20. 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

    Article first published online : 15 JUN 2009, DOI: 10.1002/ajmg.a.32846