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There are 11710 results for: content related to: Epilepsy in Wolf-Hirschhorn Syndrome (4p-)

  1. Deletion 4p: Wolf-Hirschhorn Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 249–261, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch19

  2. 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

  3. Wolf–Hirschhorn syndrome: A review and update

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

    Volume 169, Issue 3, September 2015, Pages: 216–223, Agatino Battaglia, John C. Carey and Sarah T. South

    Article first published online : 4 AUG 2015, DOI: 10.1002/ajmg.c.31449

  4. Update on the clinical features and natural history of Wolf–Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 246–251, Agatino Battaglia, Tiziana Filippi and John C. Carey

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30187

  5. Wolf-Hirschhorn (4p-) Syndrome

    Standard Article

    Management of Genetic Syndromes

    Agatino Battaglia

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs055

  6. The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): A description of a second case

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 175–178, Laura Rodríguez, Marcella Zollino, Salvador Climent, Elena Mansilla, Fermina López-Grondona, María Luisa Martínez-Fernández, Marina Murdolo and María Luisa Martínez-Frías

    Article first published online : 9 JUN 2005, DOI: 10.1002/ajmg.a.30775

  7. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype–phenotype correlation

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 338–342, Anita Rauch, Stefan Schellmoser, Cornelia Kraus, Helmuth G. Dörr, Udo Trautmann, Michael R. Altherr, Rudolf A. Pfeiffer and André Reis

    Article first published online : 8 MAR 2001, DOI: 10.1002/ajmg.1203

  8. Mouse models of Wolf–Hirschhorn syndrome

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 275–280, Ruth Simon and Andrew D. Bergemann

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30184

  9. Pathogenic significance of deletions distal to the currently described Wolf–Hirschhorn syndrome critical regions on 4p16.3

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 270–274, Sarah T. South, Femke Hannes, Gene S. Fisch, Joris Robert Vermeesch and Marcella Zollino

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30188

  10. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter)

    American Journal of Medical Genetics

    Volume 104, Issue 3, 1 December 2001, Pages: 199–203, M. Syrrou, M. Borghgraef and J.-P. Fryns

    Article first published online : 14 NOV 2001, DOI: 10.1002/1096-8628(20011201)104:3<199::AID-AJMG10058>3.0.CO;2-4

  11. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 597–609, Kenji Shimizu, Keiko Wakui, Tomoki Kosho, Nobuhiko Okamoto, Seiji Mizuno, Kazuya Itomi, Shigeto Hattori, Kimio Nishio, Osamu Samura, Yoshiyuki Kobayashi, Yuko Kako, Takashi Arai, Tsutomu Oh-ishi, Hiroshi Kawame, Yoko Narumi, Hirofumi Ohashi and Yoshimitsu Fukushima

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36308

  12. Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 7, July 2012, Pages: 549–552, Desheng Liang, Zhongmin Zhou, Dahua Meng, Juan Du, Juan Wen, Norio Niikawa and Lingqian Wu

    Article first published online : 29 MAY 2012, DOI: 10.1002/bdra.23019

  13. Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life-threatening event: Congenital diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 194–196, M.F. van Dooren, A.S. Brooks, A.J.M. Hoogeboom, T.L. van den Hoonaard, J.E.M.M. de Klein, C.H. Wouters and D. Tibboel

    Article first published online : 11 FEB 2004, DOI: 10.1002/ajmg.a.20613

  14. Genotype–phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 254–261, Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappalà, Agatino Battaglia, Maja Di Rocco, Giandomenico Palka, Rosanna Pallotta, Michael R. Altherr and Giovanni Neri

    Article first published online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<254::AID-AJMG13>3.0.CO;2-7

  15. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2137–2142, Sarah T. South, Steven B. Bleyl and John C. Carey

    Article first published online : 14 AUG 2007, DOI: 10.1002/ajmg.a.31900

  16. Malignant hematological disorders in children with Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 2, 1 June 2003, Pages: 194–199, Anjali Sharathkumar, Melanie Kirby, Melvin Freedman, Mohamed Abdelhaleem, David Chitayat, Ikuko E. Teshima and Yigal Dror

    Article first published online : 4 APR 2003, DOI: 10.1002/ajmg.a.20080

  17. Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 1028–1032, Kosuke Izumi, Hironobu Okuno, Katsuhiro Maeyama, Seiji Sato, Toshiyuki Yamamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi and Kenjiro Kosaki

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33121

  18. Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2280–2284, Joel Verbrugge, Arabinda Kumar Choudhary and Roger Ladda

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33022

  19. Inv dup del(4)(:p13 [RIGHTWARDS ARROW] p16.3::p16.3 [RIGHTWARDS ARROW] qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1302–1307, Giorgio A. Paskulin, Mariluce Riegel, Philip D. Cotter, Andrea Kiss, Rafael F.M. Rosa, Paulo R.G. Zen, Rômulo Mombach and Carla Graziadio

    Article first published online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32888

  20. Mild Wolf–Hirschhorn phenotype and partial gh deficiency in a patient with a 4p terminal deletion

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 197–200, L. Titomanlio, A. Romano, A. Conti, R. Genesio, M. Salerno, D. De Brasi, L. Nitsch and E. Del Giudice

    Article first published online : 11 FEB 2004, DOI: 10.1002/ajmg.a.20667