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There are 12233 results for: content related to: A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome

  1. 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

  2. Nutritional ecology of elk during summer and autumn in the Pacific Northwest

    Wildlife Monographs

    Volume 195, Issue 1, November 2016, Pages: 1–81, John G. Cook, Rachel C. Cook, Ronald W. Davis and Larry L. Irwin

    Version of Record online : 20 OCT 2016, DOI: 10.1002/wmon.1020

  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

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

  4. 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

  5. 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

  6. Cognitive-behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions

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

    Volume 154C, Issue 4, 15 November 2010, Pages: 417–426, Gene S. Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom and Richard Simensen

    Version of Record online : 27 OCT 2010, DOI: 10.1002/ajmg.c.30279

  7. 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

  8. 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

  9. 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

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33121

  10. 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

  11. Cognitive-behavioral features of children with Wolf–Hirschhorn syndrome: Preliminary report of 12 cases

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 252–256, Gene S. Fisch, Agatino Battaglia, Barbara Parrini, Janey Youngblom and Richard Simensen

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30185

  12. Wolf–Hirschhorn syndrome and the 4p-related syndromes

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

    Volume 148C, Issue 4, 15 November 2008, Pages: 241–243, Agatino Battaglia and John C. Carey

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.c.30189

  13. 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

  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. Risk of self-reported symptoms or diagnosis of active tuberculosis in relationship to low body mass index, diabetes and their co-occurrence

    Tropical Medicine & International Health

    Volume 21, Issue 10, October 2016, Pages: 1272–1281, L. Prince, J. R. Andrews, S. Basu and J. D. Goldhaber-Fiebert

    Version of Record online : 24 AUG 2016, DOI: 10.1111/tmi.12763

  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

    Version of Record online : 4 APR 2003, DOI: 10.1002/ajmg.a.20080

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    4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2540–2550, Weimin Bi, Sau-Wai Cheung, Amy M. Breman and Carlos A. Bacino

    Version of Record online : 10 JUN 2016, DOI: 10.1002/ajmg.a.37796

  18. 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

    Version of Record online : 11 FEB 2004, DOI: 10.1002/ajmg.a.20667

  19. Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1169–1173, Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco and Marcella Zollino

    Version of Record online : 4 MAY 2007, DOI: 10.1002/ajmg.a.31723

  20. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 103–109, Joyce So, Ines Müller, Melanie Kunath, Susanne Herrmann, Reinhard Ullmann and Susann Schweiger

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32055