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There are 14715 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

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

  2. 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

  3. 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

  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. 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

  6. 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

  7. 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

  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

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

  9. 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

  10. 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

  11. 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

  12. 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

    Article first published online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20355

  13. 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

    Article first published online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30948

  14. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Article first published online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  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. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 165–179, Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung and Lisa G. Shaffer

    Article first published online : 2 NOV 2011, DOI: 10.1002/humu.21614

  17. 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

  18. A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 198–202, Nathan D. Montgomery, Christie M. Turcott, James H. Tepperberg, Marie T. McDonald and Arthur S. Aylsworth

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35671

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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

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

  20. You have free access to this content
    In this issue

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Page: fm x,

    Article first published online : 26 JAN 2011, DOI: 10.1002/ajmg.a.33921