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There are 4082 results for: content related to: Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

  1. 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

  2. You have free access to this content
    G protein-coupled receptor signalling in the cardiac nuclear membrane: evidence and possible roles in physiological and pathophysiological function

    The Journal of Physiology

    Volume 590, Issue 6, March 2012, Pages: 1313–1330, Artavazd Tadevosyan, George Vaniotis, Bruce G. Allen, Terence E. Hébert and Stanley Nattel

    Article first published online : 14 MAR 2012, DOI: 10.1113/jphysiol.2011.222794

  3. Genome-wide androgenetic mosaicism

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 282–285, J.P. Johnson, J. Waterson, C. Schwanke and J. Schoof

    Article first published online : 23 APR 2013, DOI: 10.1111/cge.12146

  4. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith–Wiedemann syndrome

    Clinical Genetics

    Y. Ohtsuka, K. Higashimoto, K. Sasaki, K. Jozaki, H. Yoshinaga, N. Okamoto, Y. Takama, A. Kubota, M. Nakayama, H. Yatsuki, K. Nishioka, K. Joh, T. Mukai, K.-i. Yoshiura and H. Soejima

    Article first published online : 8 NOV 2014, DOI: 10.1111/cge.12496

  5. Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 595–602, Franck Court, Alex Martin-Trujillo, Valeria Romanelli, Intza Garin, Isabel Iglesias-Platas, Ira Salafsky, Miriam Guitart, Guiomar Perez de Nanclares, Pablo Lapunzina and David Monk

    Article first published online : 19 FEB 2013, DOI: 10.1002/humu.22276

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    Genome-wide DNA methylation profiles in hepatocellular carcinoma

    Hepatology

    Volume 55, Issue 6, June 2012, Pages: 1799–1808, Jing Shen, Shuang Wang, Yu-Jing Zhang, Maya Kappil, Hui-Chen Wu, Muhammad G. Kibriya, Qiao Wang, Farzana Jasmine, Habib Ahsan, Po-Huang Lee, Ming-Whei Yu, Chien-Jen Chen and Regina M. Santella

    Article first published online : 24 APR 2012, DOI: 10.1002/hep.25569

  7. Genome-wide DNA methylation profiling

    Wiley Interdisciplinary Reviews: Systems Biology and Medicine

    Volume 2, Issue 2, March/April 2010, Pages: 210–223, Marina Bibikova and Jian-Bing Fan

    Article first published online : 29 SEP 2009, DOI: 10.1002/wsbm.35

  8. Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter syndrome

    Molecular Reproduction and Development

    Volume 82, Issue 5, May 2015, Pages: 377–386, Emily S. Wan, Weiliang Qiu, Jarrett Morrow, Terri H. Beaty, Jacqueline Hetmanski, Barry J. Make, David A. Lomas, Edwin K. Silverman and Dawn L. DeMeo

    Article first published online : 30 APR 2015, DOI: 10.1002/mrd.22483

  9. Imprinting Disorders

    Standard Article

    eLS

    Rebecca S Henkhaus, Andrew P Feinberg, Emily L Niemitz and Merlin G Butler

    Published Online : 15 SEP 2011, DOI: 10.1002/9780470015902.a0005477.pub2

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    The health risks of ART

    EMBO reports

    Volume 14, Issue 2, February 2013, Pages: 129–135, Daria Grafodatskaya, Cheryl Cytrynbaum and Rosanna Weksberg

    Article first published online : 22 JAN 2013, DOI: 10.1038/embor.2012.222

  11. Animal Model for Cholesteatoma Induced in the Gerbil: Will the Profiles of Differentiation/Growth-Regulatory Markers be Similar to the Clinical Situation?

    The Laryngoscope

    Volume 117, Issue 4, April 2007, Pages: 706–711, Georges Choufani, Nicolas Roper, Carine Delbrouck, Sergio Hassid and Hans-Joachim Gabius

    Article first published online : 2 JAN 2009, DOI: 10.1097/mlg.0b013e318031d09d

  12. 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

  13. Epigenetics for anthropologists: An introduction to methods

    American Journal of Human Biology

    Volume 27, Issue 3, May/June 2015, Pages: 295–303, Amy L. Non and Zaneta M. Thayer

    Article first published online : 24 FEB 2015, DOI: 10.1002/ajhb.22679

  14. Genome-wide methylation analysis in vestibular schwannomas shows putative mechanisms of gene expression modulation and global hypomethylation at the HOX gene cluster

    Genes, Chromosomes and Cancer

    Volume 54, Issue 4, April 2015, Pages: 197–209, Miguel Torres-Martín, Luis Lassaletta, Jose M de Campos, Alberto Isla, Giovanny R. Pinto, Rommel R. Burbano, Bárbara Melendez, Javier S. Castresana and Juan A. Rey

    Article first published online : 23 DEC 2014, DOI: 10.1002/gcc.22232

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    The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

    Biology of the Cell

    Volume 103, Issue 7, July 2011, Pages: 303–317, Pablo Lapunzina and David Monk

    Article first published online : 3 JAN 2012, DOI: 10.1042/BC20110013

  16. 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

  17. 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

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    Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045

  19. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2174–2182, Rebecca L. Poole, Louise E. Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah J.G. Mackay and On behalf of the International Clinical Imprinting Consortium

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36049

  20. 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