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There are 120224 results for: content related to: Towards an evidence-based process for the clinical interpretation of copy number variation

  1. 5p deletions: Current knowledge and future directions

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

    Volume 169, Issue 3, September 2015, Pages: 224–238, Joanne M. Nguyen, Krista J. Qualmann, Rebecca Okashah, AmySue Reilly, Mikhail F. Alexeyev and Dennis J. Campbell

    Version of Record online : 3 AUG 2015, DOI: 10.1002/ajmg.c.31444

  2. Consequences of chromsome18q deletions

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

    Volume 169, Issue 3, September 2015, Pages: 265–280, Jannine D. Cody, Courtney Sebold, Patricia Heard, Erika Carter, Bridgette Soileau, Minire Hasi-Zogaj, Annice Hill, David Rupert, Brian Perry, Louise O'Donnell, Jon Gelfond, Jack Lancaster, Peter T. Fox and Daniel E. Hale

    Version of Record online : 3 AUG 2015, DOI: 10.1002/ajmg.c.31446

  3. You have full text access to this OnlineOpen article
    Predicting complex phenotype–genotype interactions to enable yeast engineering: Saccharomyces cerevisiae as a model organism and a cell factory

    Biotechnology Journal

    Volume 8, Issue 9, September 2013, Pages: 1017–1034, Duygu Dikicioglu, Pınar Pir and Prof. Stephen G. Oliver

    Version of Record online : 23 AUG 2013, DOI: 10.1002/biot.201300138

  4. Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 221–228, Virginie Helias, Carole Saison, Thierry Peyrard, Eliane Vera, Claude Prehu, Jean-Pierre Cartron and Lionel Arnaud

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22218

  5. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 728–740, Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger Ladda, Susan Sell, Judith Martin, Shawnia Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan-Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye, Bénédicte Heron-Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloes, Bertrand Isidor, Cedric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif and Lisa G. Shaffer

    Version of Record online : 12 MAR 2012, DOI: 10.1002/humu.22037

  6. Making chromosome abnormalities treatable conditions

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

    Volume 169, Issue 3, September 2015, Pages: 209–215, Jannine DeMars Cody and Daniel Esten Hale

    Version of Record online : 3 AUG 2015, DOI: 10.1002/ajmg.c.31447

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    A functional network module for Smith–Magenis syndrome

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 364–374, S Girirajan, HT Truong, CL Blanchard and SH Elsea

    Version of Record online : 19 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01135.x

  8. Microdeletion of the Down syndrome critical region at 21q22

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 950–953, Hideki Fujita, Chiharu Torii, Rika Kosaki, Shinya Yamaguchi, Jun Kudoh, Kumiko Hayashi, Takao Takahashi and Kenjiro Kosaki

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33228

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    2015 ACR/ARHP Annual Meeting Abstract Supplement

    Arthritis & Rheumatology

    Volume 67, Issue S10, October 2015, Pages: 1–4046,

    Version of Record online : 5 NOV 2015, DOI: 10.1002/art.39448

  10. FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits

    Hippocampus

    Volume 16, Issue 10, October 2006, Pages: 875–890, Lijian Shen, Hyung-Song Nam, Ping Song, Holly Moore and Stewart A. Anderson

    Version of Record online : 28 AUG 2006, DOI: 10.1002/hipo.20218

  11. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 80–84, S.K. Gandomi, M. Parra, D. Reeves, V. Yap and C.-L. Gau

    Version of Record online : 20 DEC 2013, DOI: 10.1111/cge.12328

  12. Oncogene-dependent control of miRNA biogenesis and metastatic progression in a model of undifferentiated pleomorphic sarcoma

    The Journal of Pathology

    Volume 229, Issue 1, January 2013, Pages: 132–140, Jeffrey K Mito, Hooney D Min, Yan Ma, Jessica E Carter, Brian E Brigman, Leslie Dodd, David Dankort, Martin McMahon and David G Kirsch

    Version of Record online : 20 NOV 2012, DOI: 10.1002/path.4099

  13. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond–blackfan anemia

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1037–1044, Hanna T. Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M. Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros, Roxanne Ghazvinian, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes and Alan H. Beggs

    Version of Record online : 16 APR 2012, DOI: 10.1002/humu.22081

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    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 787–796, Erin Rooney Riggs, Laird Jackson, David T. Miller and Steven Van Vooren

    Version of Record online : 20 MAR 2012, DOI: 10.1002/humu.22052

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    Tuesday, December 4, 2007 Temporal Lobe Epilepsy: Discrete Focus or Spectrum Disorder? 9:00 a.m.-10:30 a.m.

    Epilepsia

    Volume 48, Issue s6, October 2007, Page: 410,

    Version of Record online : 5 OCT 2007, DOI: 10.1111/j.1528-1167.2007.01252_13.x

  16. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases

    BioEssays

    Volume 26, Issue 4, April 2004, Pages: 374–386, Aleš Cvekl and Ernst R. Tamm

    Version of Record online : 26 MAR 2004, DOI: 10.1002/bies.20009

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    Poster Session II 8:00 a.m.-6:00 p.m

    Epilepsia

    Volume 48, Issue s6, October 2007, Pages: 125–238,

    Version of Record online : 5 OCT 2007, DOI: 10.1111/j.1528-1167.2007.01252_3.x

  18. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Version of Record online : 3 DEC 2012, DOI: 10.1111/cge.12056

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    Haplo-insufficiency: a driving force in cancer

    The Journal of Pathology

    Volume 223, Issue 2, January 2011, Pages: 138–147, Alice H Berger and Pier Paolo Pandolfi

    Version of Record online : 29 OCT 2010, DOI: 10.1002/path.2800

  20. Fibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice

    The Journal of Pathology

    Volume 224, Issue 1, May 2011, Pages: 33–44, Boubacar Mariko, Mylène Pezet, Brigitte Escoubet, Stéphanie Bouillot, Jean-Pierre Andrieu, Barry Starcher, Daniela Quaglino, Marie-Paule Jacob, Philippe Huber, Francesco Ramirez and Gilles Faury

    Version of Record online : 22 MAR 2011, DOI: 10.1002/path.2840