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There are 15106 results for: content related to: Isolated 6q terminal deletions: An emerging new syndrome

  1. DOOR syndrome: Clinical report, literature review and discussion of natural history

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2821–2831, Aaron W. James, Suzette G. Miranda, Kathy Culver, Bryan D. Hall and Mahin Golabi

    Version of Record online : 9 NOV 2007, DOI: 10.1002/ajmg.a.32054

  2. How to optimize patch testing with diphenylmethane diisocyanate

    Contact Dermatitis

    Volume 57, Issue 3, September 2007, Pages: 138–151, Malin Frick-Engfeldt, Marléne Isaksson, Erik Zimerson and Magnus Bruze

    Version of Record online : 2 AUG 2007, DOI: 10.1111/j.1600-0536.2007.01197.x

  3. You have free access to this content
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1628–1640, Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice-Picard, Elizabeth Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte-Dijkstra, Alain Verloes, Emma Wakeling, Louise Wilson and Raoul C.M. Hennekam

    Version of Record online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32956

  4. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 1, 1 April 2003, Pages: 90–95, Brad T. Tinkle, Martha E. Walker, Ruthann I. Blough-Pfau, Howard M. Saal and Robert J. Hopkin

    Version of Record online : 9 JAN 2003, DOI: 10.1002/ajmg.a.10216

  5. Patch testing with thin-layer chromatograms of chamomile tea in patients allergic to sesquiterpene lactones

    Contact Dermatitis

    Volume 57, Issue 4, October 2007, Pages: 218–223, Kerstin Lundh, Birgitta Gruvberger, Halvor Möller, Lena Persson, Monica Hindsén, Erik Zimerson, ÅKe Svensson and Magnus Bruze

    Version of Record online : 14 SEP 2007, DOI: 10.1111/j.1600-0536.2007.01226.x

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    Molecular analyses and identification of promising candidate genes for loci on mouse chromosome 1 affecting alcohol physical dependence and associated withdrawal

    Genes, Brain and Behavior

    Volume 7, Issue 5, July 2008, Pages: 599–608, D. L. Denmark and K. J. Buck

    Version of Record online : 19 MAR 2008, DOI: 10.1111/j.1601-183X.2008.00396.x

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    Comparative RNomics and Modomics in Mollicutes: Prediction of Gene Function and Evolutionary Implications

    IUBMB Life

    Volume 59, Issue 10, 2007, Pages: 634–658, Valérie de Crécy-Lagard, Christian Marck, Céline Brochier-Armanet and Henri Grosjean

    Version of Record online : 17 JAN 2008, DOI: 10.1080/15216540701604632

  8. GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1523–1529, Eny Maria Goloni-Bertollo, Mariangela Torreglosa Ruiz, Cristina B. Vendrame Goloni, Marcos Pontes Muniz, Nelson Iguimar Valério and Érika Cristina Pavarino-Bertelli

    Version of Record online : 9 MAY 2008, DOI: 10.1002/ajmg.a.32157

  9. Further delineation of the chromosome 14q terminal deletion syndrome

    American Journal of Medical Genetics

    Volume 110, Issue 1, 1 June 2002, Pages: 65–72, Clara D.M. van Karnebeek, Safira Quik, Sigrid Sluijter, Miriam M.F. Hulsbeek, Jan M.N. Hoovers and Raoul C.M. Hennekam

    Version of Record online : 9 APR 2002, DOI: 10.1002/ajmg.10207

  10. Characterisation of human tick-borne encephalitis virus from Sweden

    Journal of Medical Virology

    Volume 71, Issue 4, December 2003, Pages: 610–621, Mats Haglund, Sirkka Vene, Marianne Forsgren, Göran Günther, Bo Johansson, Matthias Niedrig, Alexander Plyusnin, Lars Lindquist and Åke Lundkvist

    Version of Record online : 6 OCT 2003, DOI: 10.1002/jmv.10497

  11. Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

    American Journal of Medical Genetics

    Volume 112, Issue 4, 1 November 2002, Pages: 412–421, Inge D.C. Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg and Raoul C.M. Hennekam

    Version of Record online : 7 OCT 2002, DOI: 10.1002/ajmg.10707

  12. Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1366–1370, Giorgio A. Paskulin, Paulo R.G. Zen, Rafael F.M. Rosa, Rosana C. Manique and Philip D. Cotter

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31785

  13. The expression pattern of MUC1 glycoforms and other biomarkers of endometrial receptivity in fertile and infertile women

    Molecular Reproduction and Development

    Volume 72, Issue 2, October 2005, Pages: 216–229, A.W. Horne, E.-N. Lalani, R.A. Margara, T.A. Ryder, M.A. Mobberley and J.O. White

    Version of Record online : 21 JUN 2005, DOI: 10.1002/mrd.20307

  14. Type I glutaric aciduria, part 1: Natural history of 77 patients

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

    Volume 121C, Issue 1, 15 August 2003, Pages: 38–52, Kevin A. Strauss, Erik G. Puffenberger, Donna L. Robinson and D. Holmes Morton

    Version of Record online : 26 JUN 2003, DOI: 10.1002/ajmg.c.20007

  15. Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1609–1613, Erika von Sneidern and Yves Lacassie

    Version of Record online : 30 APR 2008, DOI: 10.1002/ajmg.a.32334

  16. Long-term survival in a patient with del(18)(q12.2q21.1)

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 66–70, Brad T. Tinkle, Carol A. Christianson, Elizabeth K. Schorry, Thomas Webb and Robert J. Hopkin

    Version of Record online : 8 JAN 2003, DOI: 10.1002/ajmg.a.10217

  17. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 234–243, Constance Th.R.M. Schrander-Stumpel, Liesbeth Spruyt, Leopold M.G. Curfs, Truus Defloor and Jaap J.P. Schrander

    Version of Record online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30331

  18. Mutational analysis of SPANX genes in families with X-Linked prostate cancer

    The Prostate

    Volume 67, Issue 8, 1 June 2007, Pages: 820–828, Natalay Kouprina, Vladimir N. Noskov, Greg Solomon, John Otstot, William Isaacs, Jianfeng Xu, Johanna Schleutker and Vladimir Larionov

    Version of Record online : 20 MAR 2007, DOI: 10.1002/pros.20561

  19. The ring 14 syndrome: Clinical and molecular definition

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1116–1124, Marcella Zollino, Laura Seminara, Daniela Orteschi, Giuseppe Gobbi, Simona Giovannini, Elvio Della Giustina, Daniele Frattini, Angela Scarano and Giovanni Neri

    Version of Record online : 13 MAY 2009, DOI: 10.1002/ajmg.a.32831

  20. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 277–287, Alain Verloes, Pierre Bitoun, Anne Heuskin, Dina Amrom, Hilde Van de Broeck, Sarah M. Nikkel, Albert E. Chudley, Asuri N. Prasad, Cristina Rusu, Mircea Covic, Annick Toutain, Claude Moraine, Melissa A. Parisi, Michael Patton, Jean-Jacques Martin and Marie-Noelle Van Thienen

    Version of Record online : 5 MAY 2004, DOI: 10.1002/ajmg.a.20687