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There are 3039 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

    Version of Record 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

    Version of Record 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

    Version of Record 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

    Version of Record 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

    Version of Record 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

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320370607

  9. 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

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04058.x

  10. 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

    Version of Record online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33303

  11. 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

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33129

  12. 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

    Version of Record online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1994.tb00067.x

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

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 431–440, 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

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12537

  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

    Version of Record online : 12 APR 2010, DOI: 10.1111/j.1754-4505.2010.00137.x

  15. 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

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

  16. 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

    Version of Record online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32424

  17. 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

    Version of Record online : 20 JUL 2006, DOI: 10.1002/mpo.2950170526

  18. 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

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320460309

  19. Monozygotic twins concordant for Rubinstein-Taybi syndrome

    Clinical Genetics

    Volume 37, Issue 6, June 1990, Pages: 429–434, Qais Ghanem and Saleh Dawod

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03526.x

  20. 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

    Version of Record online : 9 FEB 2004, DOI: 10.1002/humu.20001