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There are 3360 results for: content related to: 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

  1. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 611–618, Chiara Castronovo, Daniela Rusconi, Milena Crippa, Daniela Giardino, Cristina Gervasini, Donatella Milani, Anna Cereda, Lidia Larizza, Angelo Selicorni and Palma Finelli

    Article first published online : 22 JAN 2013, DOI: 10.1002/ajmg.a.35814

  2. The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2158–2166, Nicola Dikow, Bianca Maas, Harald Gaspar, Martina Kreiss-Nachtsheim, Hartmut Engels, Alma Kuechler, Lutz Garbes, Christian Netzer, Teresa M. Neuhann, Udo Koehler, Kristina Casteels, Koen Devriendt, Johannes W.G. Janssen, Anna Jauch, Katrin Hinderhofer and Ute Moog

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36046

  3. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 724–730, Keiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, Noriko Sangu, Shino Shimada and Toshiyuki Yamamoto

    Article first published online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36959

  4. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2084–2090, Francesca Novara, Franco Stanzial, Elena Rossi, Francesco Benedicenti, Francesca Inzana, Eleonora Di Gregorio, Alfredo Brusco, Jesper Graakjaer, Christina Fagerberg, Elga Belligni, Margherita Silengo, Orsetta Zuffardi and Roberto Ciccone

    Article first published online : 12 MAY 2014, DOI: 10.1002/ajmg.a.36591

  5. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2501–2507, Jurate Kasnauskiene, Loreta Cimbalistiene, Zivile Ciuladaite, Egle Preiksaitiene, Zita Aušrelė Kučinskienė, Joe A. Hettinger, Carolina Sismani, Philippos C. Patsalis and Vaidutis Kučinskas

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34179

  6. Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1374–1378, Han Zhang, Xianglan Lu, Julie Beasley, John J Mulvihill, Ruizhi Liu, Shibo Li and Ji-Yun Lee

    Article first published online : 12 MAY 2011, DOI: 10.1002/ajmg.a.33769

  7. 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

  8. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1488–1497, Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein and Grazia M.S. Mancini

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33408

  9. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2409–2414, Johanna Kotilainen, Pia Pohjola, Sinikka Pirinen, Sirpa Arte and Pekka Nieminen

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33062

  10. NSD1 mutations in Sotos syndrome

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 24–31, Francesca Faravelli

    Article first published online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30061

  11. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1098–1107, Pascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin-Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder-Espinasse, Joëlle Roume, Valérie Malan, Marie-France Portnoi, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier-Daire, Thierry Billette de Villemeur, Thierry Frébourg and Lydie Bürglen

    Article first published online : 12 JUN 2007, DOI: 10.1002/humu.20568

  12. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 3, 30 April 2005, Pages: 247–253, M. Cecconi, F. Forzano, D. Milani, S. Cavani, C. Baldo, A. Selicorni, C. Pantaleoni, M. Silengo, G.B. Ferrero, G. Scarano, M. Della Monica, R. Fischetto, P. Grammatico, S. Majore, G. Zampino, L. Memo, E. Lucci Cordisco, G. Neri, M. Pierluigi, F. Dagna Bricarelli, M. Grasso and Francesca Faravelli

    Article first published online : 1 MAR 2005, DOI: 10.1002/ajmg.a.30492

  13. Sotos Syndrome

    Standard Article

    eLS

    Norio Niikawa, Noriko Miyake and Naomichi Matsumoto

    Published Online : 15 DEC 2008, DOI: 10.1002/9780470015902.a0021430

  14. Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1398–1410, Linda Siggberg, Sirpa Ala-Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius and Sakari Knuutila

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33402

  15. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 34–37, Terumichi Matsuo, Dr. Kenji Ihara, Masayuki Ochiai, Tadamune Kinjo, Yoko Yoshikawa, Kanako Kojima-Ishii, Marie Noda, Hiroshi Mizumoto, Maiko Misaki, Kyoko Minagawa, Koji Tominaga and Toshiro Hara

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35657

  16. Sotos Syndrome

    Standard Article

    Management of Genetic Syndromes

    Trevor R. P. Cole

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs044

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    Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations

    Developmental Medicine & Child Neurology

    Volume 48, Issue 7, July 2006, Pages: 582–588, L de Boer, I Röder and J M Wit

    Article first published online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2006.tb01319.x

  18. Sotos Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 769–786, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch51

  19. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Article first published online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  20. Sotos Syndrome: A case report

    Special Care in Dentistry

    Volume 26, Issue 6, November 2006, Pages: 257–262, Jaciara Miranda Gomes-Silva, Denise Belucio Ruviére, Regina Aparecida Saiani Segatto, Alexandra Mussolino de Queiroz and Aldevina Campos de Freitas

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1754-4505.2006.tb01664.x