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There are 9152 results for: content related to: New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome

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

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 148–154, 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

  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. 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

  6. Rubinstein-Taybi Syndrome

    Standard Article

    Management of Genetic Syndromes

    Raoul C. M. Hennekam

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

  7. 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

  8. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

    Human Mutation

    Volume 23, Issue 3, March 2004, Pages: 278–284, Isabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, Laurence Taine, Didier Lacombe and Benoît Arveiler

    Article first published online : 9 FEB 2004, DOI: 10.1002/humu.20001

  9. Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)

    American Journal of Medical Genetics

    Volume 92, Issue 1, 1 May 2000, Pages: 47–52, Fred Petrij, Josephine C. Dorsman, Hans G. Dauwerse, Rachel H. Giles, Ton Peeters, Raoul C.M. Hennekam, Martijn H. Breuning and Dorien J.M. Peters

    Article first published online : 25 APR 2000, DOI: 10.1002/(SICI)1096-8628(20000501)92:1<47::AID-AJMG8>3.0.CO;2-H

  10. 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

  11. 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

  12. Transient hypoglycemia with hyperinsulinemia in a newborn infant with Rubinstein–Taybi syndrome

    American Journal of Medical Genetics

    Volume 37, Issue 1, September 1990, Pages: 103–105, Dr. David Wyatt

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320370124

  13. 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

  14. Dental management of a patient with Rubinstein–Taybi syndrome

    Special Care in Dentistry

    Volume 30, Issue 3, May/June 2010, Pages: 124–126, Mariana C. Morales-Chávez

    Article first published online : 12 APR 2010, DOI: 10.1111/j.1754-4505.2010.00137.x

  15. Hedgehog signaling update

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1875–1914, M. Michael Cohen Jr.

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.32909

  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. Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome

    Clinical Genetics

    Volume 48, Issue 6, December 1995, Pages: 324–327, V. Shashi and J. S. Fryburg

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04119.x

  18. 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

  19. Dominant inheritance of a syndrome similar to Rubinstein-Taybi

    American Journal of Medical Genetics

    Volume 26, Issue 1, January 1987, Pages: 85–93, Patricia Cotsirilos, JoEllyn C. Taylor, Reuben Matalon, John M. Opitz and James F. Reynolds

    Article first published online : 4 JUN 2005, DOI: 10.1002/ajmg.1320260115

  20. You have free access to this content
    Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome

    Congenital Anomalies

    Volume 52, Issue 2, June 2012, Pages: 82–86, Tatsuhiko Yagihashi, Kenjiro Kosaki, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Takao Takahashi, Yuji Sato and Rika Kosaki

    Article first published online : 29 MAY 2012, DOI: 10.1111/j.1741-4520.2012.00356.x