Literature DB >> 12070251

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

I Coupry, C Roudaut, M Stef, M-A Delrue, M Marche, I Burgelin, L Taine, C Cruaud, D Lacombe, B Arveiler.   

Abstract

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Year:  2002        PMID： 12070251      PMCID： PMC1735143          DOI： 10.1136/jmg.39.6.415

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  31 in total

1.  Rubinstein-Taybi syndrome (CREBBP, EP300).

Authors:  Martine van Belzen; Oliver Bartsch; Didier Lacombe; Dorien J M Peters; Raoul C M Hennekam
Journal:  Eur J Hum Genet       Date:  2010-07-28       Impact factor: 4.246

2.  [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

3.  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

4.  High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Authors:  Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2010-02-03       Impact factor: 4.246

5.  Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.

Authors:  Yasamin Olyaei; J Manuel Sarmiento; Serguei I Bannykh; Doniel Drazin; Robert T Naruse; Wesley King
Journal:  Cureus       Date:  2017-04-11

6.  Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.

Authors:  Md A Mohd Fadley; Azli Ismail; Thong Meow Keong; Narazah Mohd Yusoff; Zubaidah Zakaria
Journal:  J Med Case Rep       Date:  2012-01-23

7.  A genetic screen identifies putative targets and binding partners of CREB-binding protein in the developing Drosophila eye.

Authors:  Jason Anderson; Rohan Bhandari; Justin P Kumar
Journal:  Genetics       Date:  2005-07-05       Impact factor: 4.562

8.  Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Authors:  Neeti Sharma; Avinash M Mali; Sharmila A Bapat
Journal:  J Biosci       Date:  2010-06       Impact factor: 1.826

9.  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

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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