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There are 4034 results for: content related to: Phelan–McDermid syndrome: Clinical report of a 70-year-old woman

  1. 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 573–581, S.U. Dhar, D. del Gaudio, J.R. German, S.U. Peters, Z. Ou, P.I. Bader, J.S. Berg, M. Blazo, C.W. Brown, B.H. Graham, T.A. Grebe, S. Lalani, M. Irons, S. Sparagana, M. Williams, J.A. Phillips III, A.L. Beaudet, P. Stankiewicz, A. Patel, S.W. Cheung and T. Sahoo

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33253

  2. Severe lateral tibial bowing with short stature in two siblings—A provisionally novel syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2309–2316, Lia Zitano, Randall T. Loder, Mervyn D. Cohen and David D. Weaver

    Article first published online : 1 AUG 2012, DOI: 10.1002/ajmg.a.35514

  3. Deletion 22q13 Syndrome: Phelan-McDermid Syndrome

    Management of Genetic Syndromes

    Mary C. Phelan, Gail A. Stapleton, R. Curtis Rogers, Pages: 285–297, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch21

  4. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 131–136, Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget Fernandez, Denise Horn, Eva Klopocki, Brian Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich and Dr. William B. Dobyns

    Article first published online : 7 DEC 2012, DOI: 10.1002/ajmg.a.35700

  5. 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay

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

    Volume 145C, Issue 4, 15 November 2007, Pages: 393–398, Kristina Cusmano-Ozog, Melanie A. Manning and H. Eugene Hoyme

    Article first published online : 9 OCT 2007, DOI: 10.1002/ajmg.c.30155

  6. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1666–1676, Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Mafalda Mucciolo, Annabella Marozza, Chiara Di Marco, Antonio Massarelli, Valentina Canocchi, Margherita Baldassarri, Enea Ndoni, Elisa Frullanti, Sonia Amabile, Britt Marie Anderlid, Kay Metcalfe, Cédric Le Caignec, Albert David, Alan Fryer, Odile Boute, Andrieux Joris, Donatella Greco, Vanna Pecile, Roberta Battini, Antonio Novelli, Marco Fichera, Corrado Romano, Francesca Mari and Alessandra Renieri

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.a.36513

  7. You have free access to this content
    The emerging role of SHANK genes in neuropsychiatric disorders

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 113–122, Audrey Guilmatre, Guillaume Huguet, Richard Delorme and Thomas Bourgeron

    Article first published online : 7 OCT 2013, DOI: 10.1002/dneu.22128

  8. A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 403–408, D. Misceo, O.K. Rødningen, T. Barøy, H. Sorte, J.R. Mellembakken, P. Strømme, M. Fannemel and E. Frengen

    Article first published online : 14 JAN 2011, DOI: 10.1002/ajmg.a.33798

  9. A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 806–809, Kristi Simenson, Eve Õiglane-Shlik, Rita Teek, Kati Kuuse and Katrin Õunap

    Article first published online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36358

  10. You have full text access to this OnlineOpen article
    A role for synaptic zinc in ProSAP/Shank PSD scaffold malformation in autism spectrum disorders

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 136–146, Andreas M. Grabrucker

    Article first published online : 10 SEP 2013, DOI: 10.1002/dneu.22089

  11. You have free access to this content
    A blueprint for research on Shankopathies: A view from research on autism spectrum disorder

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 85–112, Salvatore Carbonetto

    Article first published online : 17 DEC 2013, DOI: 10.1002/dneu.22150

  12. Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 2099–2102, Oliver Bartsch, Eberhard Schneider, Natalja Damatova, Roger Weis, Maria Tufano, Raffaele Iorio, Alischo Ahmed, Vera Beyer, Ulrich Zechner and Thomas Haaf

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33542

  13. 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

  14. Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 2, 1 October 2004, Pages: 196–199, R. Battini, A. Battaglia, V. Bertini, G. Cioni, B. Parrini, E. Rapalini, P. Simi, F. Tinelli and A. Valetto

    Article first published online : 24 AUG 2004, DOI: 10.1002/ajmg.a.30276

  15. Unusual dicentric chromosome 22 associated with a 22q13 deletion

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2819–2823, Tina Babineau, Heather L. Wilson, Angelika J. Dawson, Bernard N. Chodirker, Vazken M. Der Kaloustian, Suzanne Demczuk and Heather E. McDermid

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31500

  16. You have free access to this content
    If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  17. Deletion 22q13 Syndrome (Phelan-McDermid Syndrome)

    Standard Article

    Management of Genetic Syndromes

    Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs016

  18. 22q13 deletion syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 91–99, Mary C. Phelan, R. Curtis Rogers, Robert A. Saul, Gail A. Stapleton, Kevin Sweet, Heather McDermid, Steven R. Shaw, Joanne Claytor, Jan Willis and Desmond P. Kelly

    Article first published online : 29 MAY 2001, DOI: 10.1002/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C

  19. Molecular and phenotypic characterization of ring chromosome 22

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 139–147, Aaron R Jeffries, Sarah Curran, Frances Elmslie, Ajay Sharma, Sharon Wenger, Marybeth Hummel and John Powell

    Article first published online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30780

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

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Page: x,

    Article first published online : 24 DEC 2012, DOI: 10.1002/ajmg.a.35822