Literature DB >> 20664634

Rubinstein-Taybi syndrome (CREBBP, EP300).

Martine van Belzen1, Oliver Bartsch, Didier Lacombe, Dorien J M Peters, Raoul C M Hennekam.   

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Year:  2010        PMID： 20664634      PMCID： PMC3039496          DOI： 10.1038/ejhg.2010.124

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


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  12 in total

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

Authors:  I Coupry; C Roudaut; M Stef; M-A Delrue; M Marche; I Burgelin; L Taine; C Cruaud; D Lacombe; B Arveiler
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

Review 2.  Etiology and recurrence risk in Rubinstein-Taybi syndrome.

Authors:  R C Hennekam; C A Stevens; J J Van de Kamp
Journal:  Am J Med Genet Suppl       Date:  1990

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.  Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Authors:  F Petrij; H G Dauwerse; R I Blough; R H Giles; J J van der Smagt; R Wallerstein; P D Maaswinkel-Mooy; C D van Karnebeek; G J van Ommen; A van Haeringen; J H Rubinstein; H M Saal; R C Hennekam; D J Peters; M H Breuning
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

5.  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

6.  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

7.  Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Authors:  Marianne Stef; Delphine Simon; Béatrice Mardirossian; Marie-Ange Delrue; Ingrid Burgelin; Christophe Hubert; Michèle Marche; Françoise Bonnet; Philippe Gorry; Michel Longy; Didier Lacombe; Isabelle Coupry; Benoît Arveiler
Journal:  Eur J Hum Genet       Date:  2007-05-02       Impact factor: 4.246

8.  High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

Authors:  Cristina Gervasini; Paola Castronovo; Angela Bentivegna; Federica Mottadelli; Francesca Faravelli; Maria Luisa Giovannucci-Uzielli; Alice Pessagno; Emanuela Lucci-Cordisco; Anna Maria Pinto; Leonardo Salviati; Angelo Selicorni; Romano Tenconi; Giovanni Neri; Lidia Larizza
Journal:  Genomics       Date:  2007-09-12       Impact factor: 5.736

9.  Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Authors:  F Petrij; R H Giles; H G Dauwerse; J J Saris; R C Hennekam; M Masuno; N Tommerup; G J van Ommen; R H Goodman; D J Peters
Journal:  Nature       Date:  1995-07-27       Impact factor: 49.962

10.  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
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  9 in total

Review 1.  The role of histone acetylation in memory formation and cognitive impairments.

Authors:  Lucia Peixoto; Ted Abel
Journal:  Neuropsychopharmacology       Date:  2012-06-06       Impact factor: 7.853

Review 2.  Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Authors:  Edward Korzus
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622

Review 3.  Malformation syndromes associated with disorders of sex development.

Authors:  John M Hutson; Sonia R Grover; Michele O'Connell; Samuel D Pennell
Journal:  Nat Rev Endocrinol       Date:  2014-06-10       Impact factor: 43.330

4.  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

5.  Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature.

Authors:  Suresh Kumar; Renu Suthar; Inusha Panigrahi; Ram K Marwaha
Journal:  Indian J Hum Genet       Date:  2012-05

6.  Benign and malignant tumors in Rubinstein-Taybi syndrome.

Authors:  Max V Boot; Martine J van Belzen; Lucy I Overbeek; Nathalie Hijmering; Matias Mendeville; Quinten Waisfisz; Pieter Wesseling; Raoul C Hennekam; Daphne de Jong
Journal:  Am J Med Genet A       Date:  2018-01-23       Impact factor: 2.802

7.  New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Authors:  Virginia Pérez-Grijalba; Alberto García-Oguiza; María López; Judith Armstrong; Sixto García-Miñaur; Jose María Mesa-Latorre; Mar O'Callaghan; Mercé Pineda Marfa; Maria Antonia Ramos-Arroyo; Fernando Santos-Simarro; Verónica Seidel; Elena Domínguez-Garrido
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183

8.  A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.

Authors:  Qian Wang; Cong Wang; Wen Bin Wei; Wei Ning Rong; Xiang Yu Shi
Journal:  BMC Med Genomics       Date:  2022-08-19       Impact factor: 3.622

9.  Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

Authors:  Juan C Ateca-Cabarga; Alejandro Cosa; Vicente Pallarés; José P López-Atalaya; Ángel Barco; Santiago Canals; David Moratal
Journal:  Sci Rep       Date:  2015-11-06       Impact factor: 4.379
  9 in total

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