Literature DB >> 16868563

Rubinstein-Taybi syndrome.

Raoul C M Hennekam1.   

Abstract

In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given.

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Year:  2006        PMID： 16868563     DOI： 10.1038/sj.ejhg.5201594

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  80 in total

Review 1.  Brain-derived neurotrophic factor and neuropsychiatric disorders.

Authors:  Anita E Autry; Lisa M Monteggia
Journal:  Pharmacol Rev       Date:  2012-03-08       Impact factor: 25.468

2.  Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome.

Authors:  S Fischer; H Bäzner; H Henkes
Journal:  Clin Neuroradiol       Date:  2011-09-20       Impact factor: 3.649

3.  Infantile glaucoma in Rubinstein-Taybi syndrome.

Authors:  J DaCosta; J Brookes
Journal:  Eye (Lond)       Date:  2012-06-22       Impact factor: 3.775

4.  Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

Authors:  Koji Masuda; Kazuhiro Akiyama; Michiko Arakawa; Eriko Nishi; Noritaka Kitazawa; Tsukasa Higuchi; Yuki Katou; Katsuhiko Shirahige; Kosuke Izumi
Journal:  Mol Syndromol       Date:  2015-03-03

5.  Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

Authors:  Dongjing Liu; Hong Wang; Holger Schwender; Mary L Marazita; Zhuqing Wang; Yuan Yuan; Ping Wang; Kung Yee Liang; Yah Huei Wu-Chou; Mengying Wang; Bing Shi; Hongping Zhu; Tao Wu; Terri H Beaty
Journal:  Am J Med Genet A       Date:  2017-04-12       Impact factor: 2.802

6.  Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Authors:  Deborah Bartholdi; Jeroen H Roelfsema; Francesco Papadia; Martijn H Breuning; Dunja Niedrist; Raoul C Hennekam; Albert Schinzel; Dorien J M Peters
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

7.  Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Authors:  Tamar I de Vries; Glen R Monroe; Martine J van Belzen; Christian A van der Lans; Sanne Mc Savelberg; William G Newman; Gijs van Haaften; Rutger A Nievelstein; Mieke M van Haelst
Journal:  Eur J Hum Genet       Date:  2016-03-09       Impact factor: 4.246

8.  A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Authors:  O Palumbo; T Mattina; P Palumbo; M Carella; C S Perrotta
Journal:  Mol Syndromol       Date:  2013-11-28

9.  A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.

Authors:  Qingming Wang; Wanfang Xu; Yanhui Liu; Haiming Yuan
Journal:  J Mol Neurosci       Date:  2020-08-25       Impact factor: 3.444

10.  A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Authors:  Hayley Crawford; Joanna Moss; Laura Groves; Robyn Dowlen; Lisa Nelson; Donna Reid; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2020-01
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