Search Results

There are 3965 results for: content related to: Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11

  1. 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

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36490

  2. Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith Syndrome

    American Journal of Medical Genetics

    Volume 104, Issue 2, 22 November 2001, Pages: 120–126, C.L. Barr, L. Best and R. Weksberg

    Article first published online : 25 SEP 2001, DOI: 10.1002/ajmg.1587

  3. 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

  4. You have free access to this content
    Allelic imbalance at 11p15.5–15.4 correlated with c-Ha-ras mutation during radiation-induced neoplastic transformation of human breast epithelial cells

    International Journal of Cancer

    Volume 103, Issue 6, 1 March 2003, Pages: 730–737, Debasish Roy, Gloria Calaf and Tom K. Hei

    Article first published online : 12 DEC 2002, DOI: 10.1002/ijc.10895

  5. Fibroadenoma in Beckwith–Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5

    Pediatrics International

    Volume 56, Issue 6, December 2014, Pages: 931–934, Yuichi Takama, Akio Kubota, Masahiro Nakayama, Ken Higashimoto, Kosuke Jozaki and Hidenobu Soejima

    Article first published online : 18 DEC 2014, DOI: 10.1111/ped.12406

  6. You have free access to this content
    Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma

    International Journal of Cancer

    Volume 111, Issue 4, 10 September 2004, Pages: 627–632, Steffen Albrecht, Wolfgang Hartmann, Farzad Houshdaran, Arend Koch, Barbara Gärtner, Dirk Prawitt, Bernhard U. Zabel, Pierre Russo, Dietrich von Schweinitz and Torsten Pietsch

    Article first published online : 4 MAY 2004, DOI: 10.1002/ijc.20280

  7. Wiedemann-Beckwith syndrome: Further prenatal characterization of the condition

    American Journal of Medical Genetics

    Volume 107, Issue 3, 22 January 2002, Pages: 209–213, Orit Reish, Israela Lerer, Aliza Amiel, Eli Heyman, Arie Herman, Tzipora Dolfin and Dvorah Abeliovich

    Article first published online : 2 JAN 2002, DOI: 10.1002/ajmg.10143

  8. 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

  9. 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

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33065

  10. The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 169–175, DK Bourque, MS Peñaherrera, RKC Yuen, MI Van Allen, DE McFadden and WP Robinson

    Article first published online : 8 APR 2010, DOI: 10.1111/j.1399-0004.2010.01443.x

  11. You have free access to this content
    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2004.47

  12. 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

    Article first published online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33204

  13. Characterization of chromosome 11 breakpoints and the areas of deletion and amplification in patients with newly diagnosed acute myeloid leukemia

    Genes, Chromosomes and Cancer

    Volume 52, Issue 7, July 2013, Pages: 619–635, Iveta Sarova, Jana Brezinova, Zuzana Zemanova, Dagmar Bystricka, Zdenek Krejcik, Petr Soukup, Jan Vydra, Jaroslav Cermak, Anna Jonasova and Kyra Michalova

    Article first published online : 12 APR 2013, DOI: 10.1002/gcc.22058

  14. 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

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36464

  15. 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

  16. 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

  17. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin

    American Journal of Medical Genetics

    Volume 110, Issue 2, 15 June 2002, Pages: 164–169, Ricardo Drut, Daniel Pollono and Rosa Mónica Drut

    Article first published online : 8 MAY 2002, DOI: 10.1002/ajmg.10424

  18. You have free access to this content
    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  19. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 14, 15 July 2006, Pages: 1497–1503, Cheryl Shuman, Adam C. Smith, Leslie Steele, Peter N. Ray, Carol Clericuzio, Elaine Zackai, Melissa A. Parisi, Anna T. Meadows, Thaddeus Kelly, David Tichauer, Jeremy A. Squire, Paul Sadowski and Rosanna Weksberg

    Article first published online : 12 JUN 2006, DOI: 10.1002/ajmg.a.31323

  20. Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1756–1763, Massimo Carella, Filippo Spreafico, Orazio Palumbo, Clelia Tiziana Storlazzi, Silvia Tabano, Monica Miozzo, Lucia Miglionico, Savino Calvano, Giulia Sindici, Beatrice Gamba, Luciana Impera, Paola Collini, Leopoldo Zelante, Paolo Radice and Daniela Perotti

    Article first published online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33420