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There are 37061 results for: content related to: Autism spectrum features in Smith–Magenis syndrome

  1. 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

  2. Pharmacological treatment of disruptive behavior in Smith–Magenis syndrome

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

    Volume 154C, Issue 4, 15 November 2010, Pages: 463–468, Gonzalo Laje, Rebecca Bernert, Rebecca Morse, Maryland Pao and Ann C.M. Smith

    Article first published online : 27 OCT 2010, DOI: 10.1002/ajmg.c.30282

  3. 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

  4. 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

  5. Craniofacial and dental phenotype of Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2556–2561, Natalia Tomona, Ann C.M. Smith, Jean Pierre Guadagnini and Thomas C. Hart

    Article first published online : 25 SEP 2006, DOI: 10.1002/ajmg.a.31371

  6. 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

  7. 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

  8. Animal models of Williams syndrome

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

    Volume 154C, Issue 2, 15 May 2010, Pages: 209–219, Lucy R. Osborne

    Article first published online : 22 APR 2010, DOI: 10.1002/ajmg.c.30257

  9. Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling

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

    Volume 142C, Issue 4, 15 November 2006, Pages: 232–240, Shawn E. Lipinski, Michael J. Lipinski, Leslie G. Biesecker and Barbara B. Biesecker

    Article first published online : 26 OCT 2006, DOI: 10.1002/ajmg.c.30107

  10. Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1579–1588, Elaine Suk-Ying Goh, Irene C. Perez, Cesar P. Canales, Phillip Ruiz, Ron Agatep, Grace Yoon, David Chitayat, Yigal Dror, Mary Shago, Sharan Goobie, Michael Sgro, Katherina Walz and Roberto Mendoza-Londono

    Article first published online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35399

  11. The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

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

    Volume 145C, Issue 4, 15 November 2007, Pages: 335–345, Lisa G. Shaffer, Bassem A. Bejjani, Beth Torchia, Susan Kirkpatrick, Justine Coppinger and Blake C. Ballif

    Article first published online : 1 OCT 2007, DOI: 10.1002/ajmg.c.30152

  12. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

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

    Volume 157, Issue 4, 15 November 2011, Pages: 305–320, Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova and María-Luisa Martínez-Frías

    Article first published online : 14 OCT 2011, DOI: 10.1002/ajmg.c.30320

  13. Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

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

    Volume 160C, Issue 2, 15 May 2012, Pages: 130–142, Yan Kou, Catalina Betancur, Huilei Xu, Joseph D Buxbaum and Avi Ma'ayan

    Article first published online : 12 APR 2012, DOI: 10.1002/ajmg.c.31330

  14. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

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

    Volume 160C, Issue 1, 15 February 2012, Pages: 22–29, Gail A. Spiridigliozzi, James H. Heller and Priya S. Kishnani

    Article first published online : 17 JAN 2012, DOI: 10.1002/ajmg.c.31323

  15. Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting

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

    Volume 151C, Issue 3, 15 August 2009, Pages: 191–199, Barbara Zellerino, Sharon A. Milligan, Ron Brooks, Debra L. Freedenberg, Dave S. Collingridge and Marc S. Williams

    Article first published online : 20 JUL 2009, DOI: 10.1002/ajmg.c.30214

  16. 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

  17. Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 6, 15 March 2007, Pages: 610–614, Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert-Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning and Karoly Szuhai

    Article first published online : 22 FEB 2007, DOI: 10.1002/ajmg.a.31593

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    Aneuploidy screening in the first trimester

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

    Volume 145C, Issue 1, 15 February 2007, Pages: 18–32, Kevin Spencer

    Article first published online : 8 FEB 2007, DOI: 10.1002/ajmg.c.30119

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    Making sense of cilia in disease: The human ciliopathies

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 281–295, Kate Baker and Philip L. Beales

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  20. On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 257–269, Marcella Zollino, Marina Murdolo, Giuseppe Marangi, Vanna Pecile, Cinzia Galasso, Laura Mazzanti and Giovanni Neri

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30190