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There are 14794 results for: content related to: Beckwith–Wiedemann syndrome

  1. Beckwith–Wiedemann syndrome

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 12–23, Rosanna Weksberg, Cheryl Shuman and Adam C. Smith

    Version of Record online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30058

  2. Tumor risk in Beckwith–Wiedemann syndrome: A review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 95–104, P. Rump, M.P.A. Zeegers and A.J. van Essen

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30729

  3. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics Part A

    Jair Tenorio, Valeria Romanelli, Alex Martin-Trujillo, García-Moya Fernández, Mabel Segovia, Claudia Perandones, Luis A. Pérez Jurado, Manel Esteller, Mario Fraga, Pedro Arias, Gema Gordo, Irene Dapía, Rocío Mena, María Palomares, Guiomar Pérez de Nanclares, Julián Nevado, Sixto García-Miñaur, Fernando Santos-Simarro, Víctor Martinez-Glez, Elena Vallespín, The SOGRI Consortium, David Monk and Pablo Lapunzina

    Version of Record online : 2 AUG 2016, DOI: 10.1002/ajmg.a.37852

  4. New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1171–1182, Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El-Osta and Christine Gicquel

    Version of Record online : 8 SEP 2011, DOI: 10.1002/humu.21558

  5. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes

    Clinical Genetics

    Volume 81, Issue 4, April 2012, Pages: 350–361, J Demars and C Gicquel

    Version of Record online : 16 JAN 2012, DOI: 10.1111/j.1399-0004.2011.01822.x

  6. Molecular Findings in Beckwith–Wiedemann Syndrome

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

    Volume 163, Issue 2, May 2013, Pages: 131–140, SANAA CHOUFANI, CHERYL SHUMAN and ROSANNA WEKSBERG

    Version of Record online : 16 APR 2013, DOI: 10.1002/ajmg.c.31363

  7. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  8. Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 326–334, KJ Jacob, WP Robinson and L Lefebvre

    Version of Record online : 9 APR 2013, DOI: 10.1111/cge.12143

  9. Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2248–2260, Saskia M. Maas, Fleur Vansenne, Daniel J. M. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M. Mannens, Johannes H. M. Merks, Eamonn R. Maher and Raoul C. Hennekam

    Version of Record online : 15 JUL 2016, DOI: 10.1002/ajmg.a.37801

  10. Brain abnormalities in patients with Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1388–1394, Kate Gardiner, David Chitayat, Sanaa Choufani, Cheryl Shuman, Susan Blaser, Deborah Terespolsky, Sandra Farrell, Rosemary Reiss, Shoshana Wodak, Shuye Pu, Peter N. Ray, Berivan Baskin and Rosanna Weksberg

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35358

  11. Genetics of Beckwith-Wiedemann syndrome-associated tumors: Common genetic pathways

    Genes, Chromosomes and Cancer

    Volume 28, Issue 1, May 2000, Pages: 1–13, Marja Steenman, Andries Westerveld and Marcel Mannens

    Version of Record online : 28 MAR 2000, DOI: 10.1002/(SICI)1098-2264(200005)28:1<1::AID-GCC1>3.0.CO;2-#

  12. Factors associated with preterm delivery in mothers of children with Beckwith–Wiedemann syndrome: A case cohort study from the BWS registry

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 2, 15 April 2005, Pages: 187–191, Michael F. Wangler, Aimee S. Chang, Kelle H. Moley, Andrew P. Feinberg and Michael R. DeBaun

    Version of Record online : 18 FEB 2005, DOI: 10.1002/ajmg.a.30595

  13. Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1760–1766, Fady M. Mikhail, Achara Sathienkijkanchai, Nathaniel H. Robin, Sandra Prucka, Julie Sanford Biggerstaff, Jan Komorowski, Robin Andersson, Carl E.G. Bruder, Arkadiusz Piotrowski, Teresita Diaz de Ståhl, Jan P. Dumanski and Andrew J. Carroll

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31821

  14. p57Kip2 knock-in mouse reveals CDK-independent contribution in the development of Beckwith–Wiedemann syndrome

    The Journal of Pathology

    Volume 239, Issue 3, July 2016, Pages: 250–261, Nicolas Duquesnes, Caroline Callot, Pauline Jeannot, Virginie Daburon, Keiichi I Nakayama, Stephane Manenti, Alice Davy and Arnaud Besson

    Version of Record online : 4 MAY 2016, DOI: 10.1002/path.4721

  15. Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1662–1669, Karen Y. Niederhoffer, Maria Peñaherrera, Denise Pugash, Rosemarie Rupps, Laura Arbour, Francine Tessier, Sanaa Choufani, Chunhua Zhao, Irina Manokhina, Cheryl Shuman, Wendy P. Robinson, Rosanna Weksberg and Cornelius F. Boerkoel

    Version of Record online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35377

  16. You have free access to this content
    Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 894–902, Frederic Brioude, Irène Netchine, Francoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert-Bellanger, Lydie Burglen, Fabienne Giuliano, Jean-Luc Alessandri, Valérie Cormier-Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Berenice Doray, Alain Verloes, Géraldine Viot, Yves Le Bouc and Sylvie Rossignol

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22824

  17. Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3010–3015, Adam C. Smith, Cheryl Shuman, David Chitayat, Leslie Steele, Peter N. Ray, Jaqueline Bourgeois and Rosanna Weksberg

    Version of Record online : 13 NOV 2007, DOI: 10.1002/ajmg.a.32030

  18. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith–Wiedemann syndrome patient

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 539–544, K. Higashimoto, K. Jozaki, T. Kosho, K. Matsubara, T. Fuke, D. Yamada, H. Yatsuki, T. Maeda, Y. Ohtsuka, K. Nishioka, K. Joh, H. Koseki, T. Ogata and H. Soejima

    Version of Record online : 4 DEC 2013, DOI: 10.1111/cge.12318

  19. Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice

    Journal of Paediatrics and Child Health

    Volume 42, Issue 9, September 2006, Pages: 486–490, Tiong Y Tan and David J Amor

    Version of Record online : 18 AUG 2006, DOI: 10.1111/j.1440-1754.2006.00908.x

  20. Beckwith–Wiedemann syndrome

    Standard Article

    Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

    Benjamin Tycko and Marcel Mannens

    Published Online : 15 NOV 2005, DOI: 10.1002/047001153X.g103213