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There are 5215 results for: content related to: Phelan–McDermid syndrome: Clinical report of a 70-year-old woman

  1. 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

  2. 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

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36513

  3. 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

    Version of Record online : 7 DEC 2012, DOI: 10.1002/ajmg.a.35700

  4. 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

    Version of Record online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36358

  5. 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

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33253

  6. 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

    Version of Record online : 9 OCT 2007, DOI: 10.1002/ajmg.c.30155

  7. 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

    Version of Record online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31500

  8. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1679–1680, Katy Phelan, Luigi Boccuto, R. Curtis Rogers, Sara M. Sarasua and Heather E. McDermid

    Version of Record online : 25 SEP 2014, DOI: 10.1002/ajmg.a.36788

  9. 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

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

  10. The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations

    Epilepsia

    Volume 57, Issue 10, October 2016, Pages: 1651–1659, J. Lloyd Holder Jr. and Michael M. Quach

    Version of Record online : 24 AUG 2016, DOI: 10.1111/epi.13506

  11. 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

  12. 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

    Version of Record online : 14 JAN 2011, DOI: 10.1002/ajmg.a.33798

  13. Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Page: 1681, Francesca Mari, Antonio Novelli, Corrado Romano and Alessandra Renieri

    Version of Record online : 5 MAY 2015, DOI: 10.1002/ajmg.a.36894

  14. 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

    Version of Record online : 10 SEP 2013, DOI: 10.1002/dneu.22089

  15. 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

    Version of Record online : 7 OCT 2013, DOI: 10.1002/dneu.22128

  16. 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2804–2809, Nobuhiko Okamoto, Takeo Kubota, Yutaka Nakamura, Ryusuke Murakami, Toshiya Nishikubo, Ichiro Tanaka, Yukihiro Takahashi, Shin Hayashi, Issei Imoto, Johji Inazawa, Noboru Hosokai, Shinichi Kohsaka and Shigeo Uchino

    Version of Record online : 1 NOV 2007, DOI: 10.1002/ajmg.a.31771

  17. 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

    Version of Record online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33542

  18. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 12, December 2016, Pages: 3348–3351, Jess F. Peterson, David P. Bick, Gabrielle C. Geddes, Julie McCarrier, John W. Grignon Jr, Brett Chirempes, Ulrich Broeckel, Fatima Abidi, Richard C. Rogers, Luigi Boccuto, Barbara DuPont and Peter vanTuinen

    Version of Record online : 23 AUG 2016, DOI: 10.1002/ajmg.a.37939

  19. Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy

    Genes, Brain and Behavior

    Volume 15, Issue 4, April 2016, Pages: 395–404, J. I. M. Egger, R. J. Zwanenburg, C. M. A. van Ravenswaaij-Arts, T. Kleefstra and W. M. A. Verhoeven

    Version of Record online : 17 FEB 2016, DOI: 10.1111/gbb.12285

  20. 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

    Version of Record online : 24 AUG 2004, DOI: 10.1002/ajmg.a.30276