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There are 31181 results for: content related to: Endochondral gigantism: A newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities

  1. 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

    Version of Record online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30061

  2. 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

    Version of Record online : 22 JAN 2013, DOI: 10.1002/ajmg.a.35814

  3. You have free access to this content
    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

    Version of Record online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2006.tb01319.x

  4. 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

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33062

  5. 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

    Version of Record online : 12 JUN 2007, DOI: 10.1002/humu.20568

  6. 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

    Version of Record online : 1 MAR 2005, DOI: 10.1002/ajmg.a.30492

  7. Sotos Syndrome

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    eLS

    Norio Niikawa, Noriko Miyake and Naomichi Matsumoto

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

  8. 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

    Version of Record online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35657

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    Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients

    Annals of Human Genetics

    Volume 71, Issue 6, November 2007, Pages: 713–718, M. Duno, F. Skovby and M. Schwartz

    Version of Record online : 11 JUN 2007, DOI: 10.1111/j.1469-1809.2007.00376.x

  10. 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

    Version of Record online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34179

  11. NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

    Human Mutation

    Volume 32, Issue 3, March 2011, Pages: 292–298, Martina P. Pasillas, Meera Shah and Mark P. Kamps

    Version of Record online : 22 FEB 2011, DOI: 10.1002/humu.21424

  12. NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes

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    eLS

    Katrina Tatton-Brown

    Published Online : 14 NOV 2014, DOI: 10.1002/9780470015902.a0025369

  13. Sotos Syndrome

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    Management of Genetic Syndromes

    Trevor R. P. Cole

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

  14. Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

    Human Mutation

    Volume 22, Issue 5, November 2003, Pages: 378–387, Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Livija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan-Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa and Naomichi Matsumoto

    Version of Record online : 18 SEP 2003, DOI: 10.1002/humu.10270

  15. Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations

    Acta Paediatrica

    Volume 94, Issue 8, August 2005, Pages: 1142–1144, Lonneke de Boer, Saskia Le Cessie and Jan M Wit

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2005.tb02059.x

  16. The NSD1 and EZH2 Overgrowth Genes, Similarities and Differences

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

    Volume 163, Issue 2, May 2013, Pages: 86–91, KATRINA TATTON-BROWN and NAZNEEN RAHMAN

    Version of Record online : 16 APR 2013, DOI: 10.1002/ajmg.c.31359

  17. Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 2933–2939, Norimitsu Hirai, Kensuke Matsune and Hirofumi Ohashi

    Version of Record online : 19 OCT 2011, DOI: 10.1002/ajmg.a.33969

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    dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations – Summary of the first 100 Sotos Syndrome Mutations

    Annals of Human Genetics

    Volume 69, Issue 2, March 2005, Pages: 222–226, Linea Melchior, Marianne Schwartz and Morten Duno

    Version of Record online : 29 NOV 2005, DOI: 10.1046/j.1469-1809.2004.00150.x

  19. 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

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33408

  20. Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome?

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 70–73, Nobuko Kanemoto, Katsuyoshi Kanemoto, Gen Nishimura, Tomohiro Kamoda, Remco Visser, Osamu Shimokawa and Naomichi Matsumoto

    Version of Record online : 2 DEC 2005, DOI: 10.1002/ajmg.a.30776