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There are 3410 results for: content related to: Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma

  1. Bibliography on Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 77–83, Raoul C. M. Hennekam

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370614

  2. Etiology and recurrence risk in Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 56–64, Raoul C. M. Hennekam, Cathy A. Stevens and J. J. P. Van de Kamp

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370610

  3. Rubinstein-Taybi syndrome medical guidelines

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 2, 1 June 2003, Pages: 101–110, Susan Wiley, Susan Swayne, Jack H. Rubinstein, Nancy E. Lanphear and Cathy A. Stevens

    Article first published online : 9 APR 2003, DOI: 10.1002/ajmg.a.10009

  4. Rubinstein-Taybi Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 705–715, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch47

  5. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957–1988

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 3–16, J. H. Rubinstein

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320370603

  6. Rubinstein-Taybi syndrome: A natural history study

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 30–37, Cathy A. Stevens, John C. Carey and Brent L. Blackburn

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370605

  7. Rubinstein-Taybi Syndrome

    Standard Article

    Management of Genetic Syndromes

    Raoul C. M. Hennekam

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs040

  8. Oral aspects of Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 37, Issue S6, 1990, Pages: 42–47, Raoul C. M. Hennekam and Jaap M. Van Doorne

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370607

  9. Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 479–483, Cezary Wójcik, Kim Volz, Maria Ranola, Karla Kitch, Tariza Karim, Joseph O'Neil, Jodi Smith and Wilfredo Torres-Martinez

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33303

  10. Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2849–2854, Dagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, Jürgen Kohlhase, Dorien J.M. Peters, Hans Dauwerse, Gabriele Gillessen-Kaesbach, Raoul C.M. Hennekam and Eberhard Passarge

    Article first published online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33129

  11. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

    Clinical Genetics

    S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza and C. Gervasini

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12537

  12. Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy

    Clinical Genetics

    Volume 48, Issue 2, August 1995, Pages: 72–75, Sabine Preis and F. Majewski

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04058.x

  13. Multiple Pilomatricomas in Rubinstein-Taybi Syndrome; A Case Report

    Pediatric Dermatology

    Volume 11, Issue 1, March 1994, Pages: 21–25, Stefano Cambiaghi, Elisa Ermacora, Alberto Brusasco, Lia Canzi and Ruggero Caputo

    Article first published online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1994.tb00067.x

  14. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

    Clinical Genetics

    G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L. G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza and C. Gervasini

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12348

  15. Apparent dominant transmission of the Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 46, Issue 3, 15 May 1993, Pages: 284–287, Robert W. Marion, Diana M. Garcia and Jeffrey B. Karasik

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320460309

  16. Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

    American Journal of Medical Genetics

    Volume 78, Issue 3, 7 July 1998, Pages: 267–270, Laurence Taine, Cyril Goizet, Zong Qi Wen, Fred Petrij, Martijn H. Breuning, Ségolène Aymé, Robert Saura, Benoit Arveiler and Didier Lacombe

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980707)78:3<267::AID-AJMG12>3.0.CO;2-D

  17. Genotype–phenotype correlations in Rubinstein–Taybi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2512–2519, E.K. Schorry, M. Keddache, N. Lanphear, J.H. Rubinstein, S. Srodulski, D. Fletcher, R.I. Blough-Pfau and G.A. Grabowski

    Article first published online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32424

  18. Keloids and neoplasms in the Rubinstein-Taybi syndrome

    Medical and Pediatric Oncology

    Volume 17, Issue 5-6, 1989, Pages: 485–491, Dr. Patricia A. Siraganian, Jack H. Rubinstein and Robert W. Miller

    Article first published online : 20 JUL 2006, DOI: 10.1002/mpo.2950170526

  19. Rubinstein–Taybi syndrome with piebaldism

    Clinical and Experimental Dermatology

    Volume 19, Issue 2, March 1994, Pages: 170–172, P. HERRANZ, J. BORBUJO, W. MARTÍNEZ, C. VIDAURRÁZAGA, R. DIAZ and M. CASADO

    Article first published online : 27 APR 2006, DOI: 10.1111/j.1365-2230.1994.tb01152.x

  20. You have free access to this content
    The Rubinstein–Taybi syndrome: modeling mental impairment in the mouse

    Genes, Brain and Behavior

    Volume 6, Issue s1, June 2007, Pages: 32–39, A. Barco

    Article first published online : 10 MAY 2007, DOI: 10.1111/j.1601-183X.2007.00320.x