Search Results

There are 8407 results for: content related to: Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

  1. Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 999–1008, Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell and Sarah H. Elsea

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31689

  2. 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

  3. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 278–282, Christopher N. Vlangos, Meredith Wilson, Jan Blancato, Ann C.M. Smith and Sarah H. Elsea

    Version of Record online : 7 DEC 2004, DOI: 10.1002/ajmg.a.30461

  4. You have free access to this content
    A functional network module for Smith–Magenis syndrome

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 364–374, S Girirajan, HT Truong, CL Blanchard and SH Elsea

    Version of Record online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01135.x

  5. Smith–Magenis Syndrome

    Standard Article

    eLS

    Sarah H Elsea and Brenda Finucane

    Published Online : 15 MAR 2009, DOI: 10.1002/9780470015902.a0021428

  6. Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta-analysis of 105 cases

    Clinical Genetics

    Volume 71, Issue 6, June 2007, Pages: 540–550, EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith and SH Elsea

    Version of Record online : 18 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00815.x

  7. 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

  8. 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

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31510

  9. You have free access to this content
    First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 231–238, Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo, Maria Iascone and Gioacchino Scarano

    Version of Record online : 28 SEP 2016, DOI: 10.1002/ajmg.a.37989

  10. Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome

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

    Volume 172, Issue 2, June 2016, Pages: 146–154, Martha E. Lopez-Burks, Rosaysela Santos, Shimako Kawauchi, Anne L. Calof and Arthur D. Lander

    Version of Record online : 27 APR 2016, DOI: 10.1002/ajmg.c.31491

  11. Tumor suppressor gene Co-operativity in compound Patched1 and suppressor of fused heterozygous mutant mice

    Molecular Carcinogenesis

    Volume 48, Issue 5, May 2009, Pages: 408–419, Jessica Svärd, Björn Rozell, Rune Toftgård and Stephan Teglund

    Version of Record online : 9 SEP 2008, DOI: 10.1002/mc.20479

  12. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2383–2388, Patra Yeetong, Thierry Vilboux, Carla Ciccone, Kristin Boulier, Rhonda E. Schnur, William A. Gahl, Marjan Huizing, Gonzalo Laje and Ann C. M. Smith

    Version of Record online : 17 JUN 2016, DOI: 10.1002/ajmg.a.37602

  13. 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

    Version of Record online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31636

  14. 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

    Version of Record online : 7 JUL 2011, DOI: 10.1002/ajmg.a.34098

  15. Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1940–1946, Idit Maya, Chana Vinkler, Osnat Konen, Liora Kornreich, Tamar Steinberg, Josepha Yeshaya, Victoria Latarowski, Mordechai Shohat, Dorit Lev and Hagit N. Baris

    Version of Record online : 30 APR 2014, DOI: 10.1002/ajmg.a.36583

  16. You have free access to this content
    Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi)

    Hepatology

    Volume 63, Issue 2, February 2016, Pages: 550–565, Shakeel M. Thakurdas, Mario F. Lopez, Shinako Kakuda, Rodrigo Fernandez-Valdivia, Neda Zarrin-Khameh, Robert S. Haltiwanger and Hamed Jafar-Nejad

    Version of Record online : 20 OCT 2015, DOI: 10.1002/hep.28024

  17. Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1078–1084, Daisuke Usui, Shino Shimada, Keiko Shimojima, Midori Sugawara, Hajime Kawasaki, Hideo Shigematu, Yukitoshi Takahashi, Yushi Inoue, Katsumi Imai and Toshiyuki Yamamoto

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35679

  18. You have free access to this content
    Mdm2 haplo-insufficiency profoundly inhibits Myc-induced lymphomagenesis

    The EMBO Journal

    Volume 22, Issue 6, March 17, 2003, Pages: 1442–1450, Jodi R. Alt, Timothy C. Greiner, John L. Cleveland and Christine M. Eischen

    Version of Record online : 17 MAR 2003, DOI: 10.1093/emboj/cdg133

  19. You have full text access to this OnlineOpen article
    Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour

    EMBO Molecular Medicine

    Volume 5, Issue 4, April 2013, Pages: 591–607, Anamaria Sudarov, Frank Gooden, Debbie Tseng, Wen-Biao Gan and Margaret Elizabeth Ross

    Version of Record online : 11 MAR 2013, DOI: 10.1002/emmm.201202106

  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

    Version of Record online : 15 JUN 2009, DOI: 10.1002/ajmg.a.32846