Literature DB >> 12749047

Rubinstein-Taybi syndrome medical guidelines.

Susan Wiley1, Susan Swayne, Jack H Rubinstein, Nancy E Lanphear, Cathy A Stevens.   

Abstract

Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines. Copyright 2003 Wiley-Liss, Inc.

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Mesh:

Year:  2003        PMID: 12749047     DOI: 10.1002/ajmg.a.10009

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  33 in total

1.  [Bony lacrimal duct stenosis and hand abnormalities as signs of systemic disease].

Authors:  J Heichel; T Bredehorn-Mayr; K Böhm; M Linné; S Riedel; H G Struck
Journal:  HNO       Date:  2016-06       Impact factor: 1.284

2.  Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Authors:  Elizabeth Park; Yunha Kim; Hyun Ryu; Neil W Kowall; Junghee Lee; Hoon Ryu
Journal:  Neuromolecular Med       Date:  2014-01-01       Impact factor: 3.843

3.  Downregulation of p300 gene expression in airway mesenchyme of nitrofen-induced hypoplastic lungs.

Authors:  Hiromizu Takahashi; Florian Friedmacher; Naho Fujiwara; Alejandro Hofmann; Toshiaki Takahashi; Prem Puri
Journal:  Pediatr Surg Int       Date:  2014-04       Impact factor: 1.827

4.  Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

Authors:  Oliver Bartsch; Sasan Rasi; Alicia Delicado; Sarah Dyack; Luitgard M Neumann; Eva Seemanová; Marianne Volleth; Thomas Haaf; Vera M Kalscheuer
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

5.  CBP is required for environmental enrichment-induced neurogenesis and cognitive enhancement.

Authors:  Jose P Lopez-Atalaya; Alessandro Ciccarelli; Jose Viosca; Luis M Valor; Maria Jimenez-Minchan; Santiago Canals; Maurizio Giustetto; Angel Barco
Journal:  EMBO J       Date:  2011-08-16       Impact factor: 11.598

6.  DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

Authors:  Oliver Bartsch; Stefanie Schmidt; Marion Richter; Susanne Morlot; Eva Seemanová; Glenis Wiebe; Sasan Rasi
Journal:  Hum Genet       Date:  2005-07-14       Impact factor: 4.132

7.  Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.

Authors:  Leuridan Cavalcante Torres; Maria de Lourdes Lopes Chauffaille; Thomaz Pileggi Delboni; Thelma Suely Okay; Magda Carneiro-Sampaio; Sofia Sugayama
Journal:  Clinics (Sao Paulo)       Date:  2010       Impact factor: 2.365

8.  A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation.

Authors:  Se Hee Kim; Byung Chan Lim; Jong Hee Chae; Ki Joong Kim; Yong Seung Hwang
Journal:  Korean J Pediatr       Date:  2010-06-23

9.  The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.

Authors:  Carlo Giussani; Angelo Selicorni; Chiara Fossati; Pablo Ingelmo; Francesco Canonico; Andrea Landi; Andrea Trezza; Matteo Riva; Erik P Sganzerla
Journal:  Childs Nerv Syst       Date:  2012-08-23       Impact factor: 1.475

Review 10.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Authors:  Silvia Spena; Cristina Gervasini; Donatella Milani
Journal:  J Pediatr Genet       Date:  2015-09-28
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