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There are 78470 results for: content related to: Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

  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

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30190

  3. Wolf-Hirschhorn (4p-) Syndrome

    Standard Article

    Management of Genetic Syndromes

    Agatino Battaglia

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

  4. A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 996–1004, Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-Pierre Fryns, Koenraad Devriendt and Joris R. Vermeesch

    Version of Record online : 21 MAR 2012, DOI: 10.1002/ajmg.a.35299

  5. 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

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.a.30775

  6. 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

    Version of Record online : 4 AUG 2015, DOI: 10.1002/ajmg.c.31449

  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

    Version of Record 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

    Version of Record 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

    Version of Record 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

    Version of Record 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

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36308

  12. Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 12, December 2013, Pages: 806–811, Anne Debost-Legrand, Carole Goumy, Hélène Laurichesse-Delmas, Pierre Déchelotte, Anne-Marie Beaufrère, Didier Lémery, Christine Francannet and Denis Gallot

    Version of Record online : 6 NOV 2013, DOI: 10.1002/bdra.23194

  13. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

    American Journal of Medical Genetics

    Volume 71, Issue 4, 5 September 1997, Pages: 453–457, Y.-Y. Fang, S. Bain, E. A. Haan, H. J. Eyre, M. MacDonald, T. J. Wright, M. R. Altherr, O. Riess, G. Sutherland and D. F. Callen

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970905)71:4<453::AID-AJMG15>3.0.CO;2-F

  14. 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

    Version of Record online : 29 MAY 2012, DOI: 10.1002/bdra.23019

  15. 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

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30187

  16. 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

    Version of Record online : 11 FEB 2004, DOI: 10.1002/ajmg.a.20613

  17. Prenatal diagnosis of brain abnormalities in Wolf–Hirschhorn (4p-) syndrome

    Prenatal Diagnosis

    Volume 22, Issue 5, May 2002, Pages: 366–370, B. De Keersmaecker, M. Albert, Y. Hillion and Y. Ville

    Version of Record online : 18 APR 2002, DOI: 10.1002/pd.318

  18. 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

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

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    Index

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 925–962, 2010

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

  20. 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

    Version of Record online : 14 AUG 2007, DOI: 10.1002/ajmg.a.31900