Literature DB >> 12114483

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, G Rödel.   

Abstract

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Year:  2002        PMID： 12114483      PMCID： PMC1735164          DOI： 10.1136/jmg.39.7.496

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


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  13 in total

1.  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

2.  Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.

Authors:  Chandrima Das; Siddhartha Roy; Sarita Namjoshi; Christopher S Malarkey; David N M Jones; Tatiana G Kutateladze; Mair E A Churchill; Jessica K Tyler
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-10       Impact factor: 11.205

3.  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

4.  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

5.  Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Authors:  Jeroen H Roelfsema; Stefan J White; Yavuz Ariyürek; Deborah Bartholdi; Dunja Niedrist; Francesco Papadia; Carlos A Bacino; Johan T den Dunnen; Gert-Jan B van Ommen; Martijn H Breuning; Raoul C Hennekam; Dorien J M Peters
Journal:  Am J Hum Genet       Date:  2005-02-10       Impact factor: 11.025

Review 6.  Hypothesis: neoplasms in myotonic dystrophy.

Authors:  Christine M Mueller; James E Hilbert; William Martens; Charles A Thornton; Richard T Moxley; Mark H Greene
Journal:  Cancer Causes Control       Date:  2009-12       Impact factor: 2.506

7.  Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Authors:  Daniela Rusconi; Gloria Negri; Patrizia Colapietro; Chiara Picinelli; Donatella Milani; Silvia Spena; Cinzia Magnani; Margherita Cirillo Silengo; Lorena Sorasio; Vaclava Curtisova; Maria Luigia Cavaliere; Paolo Prontera; Gabriela Stangoni; Giovanni Battista Ferrero; Elisa Biamino; Rita Fischetto; Maria Piccione; Paolo Gasparini; Leonardo Salviati; Angelo Selicorni; Palma Finelli; Lidia Larizza; Cristina Gervasini
Journal:  Hum Genet       Date:  2015-03-25       Impact factor: 4.132

Review 8.  Bromodomains as therapeutic targets.

Authors:  Susanne Muller; Panagis Filippakopoulos; Stefan Knapp
Journal:  Expert Rev Mol Med       Date:  2011-09-13       Impact factor: 5.600

9.  Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Authors:  Angela Bentivegna; Donatella Milani; Cristina Gervasini; Paola Castronovo; Federica Mottadelli; Stefano Manzini; Patrizia Colapietro; Lucio Giordano; Francesca Atzeri; Maria T Divizia; Maria L Giovannucci Uzielli; Giovanni Neri; Maria F Bedeschi; Francesca Faravelli; Angelo Selicorni; Lidia Larizza
Journal:  BMC Med Genet       Date:  2006-10-19       Impact factor: 2.103

Review 10.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638
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