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There are 3671 results for: content related to: Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2

  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

    Article first published 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

    Article first published online : 7 DEC 2004, DOI: 10.1002/ajmg.a.30461

  4. Smith–Magenis Syndrome

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    eLS

    Sarah H Elsea and Brenda Finucane

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

  5. 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

    Article first published online : 18 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00815.x

  6. 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

  7. 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

    Article first published online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01135.x

  8. 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

  9. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome

    American Journal of Medical Genetics

    Volume 87, Issue 4, 3 December 1999, Pages: 342–348, Sarah H. Elsea, Kirk Mykytyn, Katherine Ferrell, Kathryn L. Coulter, Parimal Das, Wolfgang Dubiel, Pragna I. Patel and James E. Metherall

    Article first published online : 7 DEC 1999, DOI: 10.1002/(SICI)1096-8628(19991203)87:4<342::AID-AJMG12>3.0.CO;2-A

  10. 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

  11. 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

  12. Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 748–752, Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, Mary Shago and Grace Yoon

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36322

  13. Autism spectrum features in Smith–Magenis syndrome

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

    Volume 154C, Issue 4, 15 November 2010, Pages: 456–462, Gonzalo Laje, Rebecca Morse, William Richter, Jonathan Ball, Maryland Pao and Ann C.M. Smith

    Article first published online : 27 OCT 2010, DOI: 10.1002/ajmg.c.30275

  14. 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

  15. Periventricular nodular heterotopia in Smith-Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3142–3147, Valeria Capra, Roberta Biancheri, Giovanni Morana, Pasquale Striano, Francesca Novara, Giovanni Battista Ferrero, Luca Boeri, Maria Elena Celle, Maria Margherita Mancardi, Orsetta Zuffardi, Elena Parrini and Renzo Guerrini

    Article first published online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36742

  16. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

    Clinical Genetics

    Volume 72, Issue 1, July 2007, Pages: 47–58, S Girirajan, SR Williams, JY Garbern, N Nowak, E Hatchwell and SH Elsea

    Article first published online : 26 JUN 2007, DOI: 10.1111/j.1399-0004.2007.00831.x

  17. End-stage renal failure in Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 16, 15 August 2007, Pages: 1922–1924, Scott M. Myers, Thomas D. Challman and Glenn H. Bock

    Article first published online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31830

  18. 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

  19. Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

    American Journal of Medical Genetics

    Volume 81, Issue 2, 28 March 1998, Pages: 179–185, Ann C.M. Smith, Elizabeth Dykens and Frank Greenberg

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980328)81:2<179::AID-AJMG10>3.0.CO;2-E

  20. 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

    Article first published online : 30 APR 2014, DOI: 10.1002/ajmg.a.36583