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There are 7311740 results for: content related to: CDKN1C mutations and genital anomalies

  1. 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

    Article first published online : 6 AUG 2015, DOI: 10.1002/humu.22824

  2. CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1390–1397, Valeria Romanelli, Alberta Belinchón, Sara Benito-Sanz, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Karen E. Heath, Angel Campos-Barros, Sixto García-Miñaur, Luís Fernandez, Heloisa Meneses, Juan Pedro López-Siguero, Encarna Guillén-Navarro, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Graciela Mercado, Victoria Esteban-Marfil, Rebeca Palomo, Rocío Mena, Aurora Sánchez, Miguel del Campo and Pablo Lapunzina

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33453

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

    Clinical Genetics

    A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Article first published online : 30 JUL 2015, DOI: 10.1111/cge.12635

  4. 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

    Article first published online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30729

  5. 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

    Article first published online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30058

  6. 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

  7. 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

    Article first published online : 16 JAN 2012, DOI: 10.1111/j.1399-0004.2011.01822.x

  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

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12143

  9. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 192–197, Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio and Pablo Lapunzina

    Article first published online : 29 NOV 2012, DOI: 10.1002/ajmg.a.35663

  10. 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

    Article first published online : 8 SEP 2011, DOI: 10.1002/humu.21558

  11. Beckwith–Wiedemann syndrome

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

    Volume 154C, Issue 3, 15 August 2010, Pages: 343–354, Sanaa Choufani, Cheryl Shuman and Rosanna Weksberg

    Article first published online : 20 AUG 2010, DOI: 10.1002/ajmg.c.30267

  12. 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

    Article first published online : 16 APR 2013, DOI: 10.1002/ajmg.c.31363

  13. 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

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35358

  14. Methylation of KvDMR1 involved in regulating the imprinting of CDKN1C gene in cattle

    Animal Genetics

    Volume 46, Issue 4, August 2015, Pages: 354–360, Mengnan Wang, Dongjie Li, Mingyue Zhang, Wenzhi Yang, Yali Cui and Shijie Li

    Article first published online : 9 JUN 2015, DOI: 10.1111/age.12297

  15. Novel fetal and maternal sonographic findings in confirmed cases of Beckwith–Wiedemann syndrome

    Prenatal Diagnosis

    Volume 35, Issue 4, April 2015, Pages: 394–399, Karl Oliver Kagan, Christoph Berg, Andreas Dufke, Annegret Geipel, Markus Hoopmann and Harald Abele

    Article first published online : 2 FEB 2015, DOI: 10.1002/pd.4555

  16. You have free access to this content
    Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

    The EMBO Journal

    Volume 27, Issue 1, January 9, 2008, Pages: 168–178, Jong-Yeon Shin, Galina V Fitzpatrick and Michael J Higgins

    Article first published online : 13 DEC 2007, DOI: 10.1038/sj.emboj.7601960

  17. Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1707–1712, Kimberly J. Greer, Susan J. Kirkpatrick, Rosanna Weksberg and Richard M. Pauli

    Article first published online : 10 JUN 2008, DOI: 10.1002/ajmg.a.32332

  18. 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

    Article first published online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35377

  19. 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

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

  20. Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1752–1759, W.P. Robinson, J. Slee, N. Smith, A. Murch, S. K. Watson, W.L. Lam and D.E. McFadden

    Article first published online : 25 JUN 2007, DOI: 10.1002/ajmg.a.31800