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There are 8014 results for: content related to: Russell–Silver syndrome

  1. Complex Tissue-Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1211–1220, Salah Azzi, Annick Blaise, Virginie Steunou, Madeleine D. Harbison, Jennifer Salem, Frédéric Brioude, Sylvie Rossignol, Walid Abi Habib, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Cécile Brachet, Claudine Heinrichs, Yves Le Bouc and Irène Netchine

    Version of Record online : 22 AUG 2014, DOI: 10.1002/humu.22623

  2. Methylation profiling in individuals with Russell–Silver syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 347–355, Maria S. Peñaherrera, Susanne Weindler, Margot I. Van Allen, Siu-Li Yong, Daniel L. Metzger, Barbara McGillivray, Cornelius Boerkoel, Sylvie Langlois and Wendy P. Robinson

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33204

  3. You have free access to this content
    Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell–Silver syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 10, October 2016, Pages: 2731–2739, Cheryl Cytrynbaum, Karen Chong, Vickie Hannig, Sanaa Choufani, Cheryl Shuman, Leslie Steele, Thomas Morgan, Stephen W. Scherer, Dimitri J. Stavropoulos, Raveen K. Basran and Rosanna Weksberg

    Version of Record online : 4 JUL 2016, DOI: 10.1002/ajmg.a.37819

  4. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

    Human Mutation

    Volume 32, Issue 2, February 2011, Pages: 249–258, Salah Azzi, Virginie Steunou, Alexandra Rousseau, Sylvie Rossignol, Nathalie Thibaud, Fabienne Danton, Marilyne Le Jule, Christine Gicquel, Yves Le Bouc and Irène Netchine

    Version of Record online : 28 JAN 2011, DOI: 10.1002/humu.21403

  5. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2415–2423, Shin-Ichi Horike, Jose Carlos P. Ferreira, Makiko Meguro-Horike, Sanaa Choufani, Adam C. Smith, Cheryl Shuman, Wendy Meschino, David Chitayat, Elaine Zackai, Stephen W. Scherer and Rosanna Weksberg

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33065

  6. 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

    Version of Record online : 20 AUG 2010, DOI: 10.1002/ajmg.c.30267

  7. Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1172–1180, Stéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynes, Guiomar Perez de Nanclares, Boris Keren, Sandra Chantot, Anne Barlier, Agnès Linglart and Irène Netchine

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22352

  8. Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell–Silver syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3229–3233, Yuan Xue, Suma Shankar, Kristen Cornell, Zunyan Dai, Chuan-En Wang, M. Katherine Rudd and Bradford Coffee

    Version of Record online : 11 SEP 2015, DOI: 10.1002/ajmg.a.37371

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    Ordered assembly of the V(D)J synaptic complex ensures accurate recombination

    The EMBO Journal

    Volume 21, Issue 15, August 1, 2002, Pages: 4162–4171, Jessica M. Jones and Martin Gellert

    Version of Record online : 1 AUG 2002, DOI: 10.1093/emboj/cdf394

  10. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

    Clinical Genetics

    Volume 80, Issue 1, July 2011, Pages: 83–88, M Begemann, S Spengler, D Kanber, A Haake, M Baudis, I Leisten, G Binder, S Markus, T Rupprecht, H Segerer, S Fricke-Otto, R Mühlenberg, R Siebert, K Buiting and T Eggermann

    Version of Record online : 22 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01514.x

  11. Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1484–1487, Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A. Mau-Holzmann, Sylke Singer and Eva Rossier

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33398

  12. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1587–1594, Lindsay A. Brown, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux and Cornelius F. Boerkoel

    Version of Record online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36490

  13. 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

  14. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2479–2483, Adriano Bonaldi, Juliana F. Mazzeu, Silvia S. Costa, Rachel S. Honjo, Débora R. Bertola, Lilian M.J. Albano, Isabel M. Furquim, Chong A. Kim and Angela M. Vianna-Morgante

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34023

  15. Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1595–1605, Siv Fokstuen and Dieter Kotzot

    Version of Record online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36464

  16. 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

  17. Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 993–1001, Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi-Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner and Matthew A. Deardorff

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35831

  18. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 79–84, T Eggermann, N Schönherr, K Eggermann, K Buiting, MB Ranke, HA Wollmann and G Binder

    Version of Record online : 7 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00930.x

  19. The bounty of RAGs: recombination signal complexes and reaction outcomes

    Immunological Reviews

    Volume 200, Issue 1, August 2004, Pages: 90–114, Patrick C. Swanson

    Version of Record online : 9 JUL 2004, DOI: 10.1111/j.0105-2896.2004.00159.x

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    Landmark-based device calibration and region-based modeling for RSS-based localization

    Wireless Communications and Mobile Computing

    Volume 16, Issue 13, September 2016, Pages: 1726–1745, Hung Nguyen Manh, Ching-Chun Huang and Lee Hsiao-Yi

    Version of Record online : 18 NOV 2015, DOI: 10.1002/wcm.2647