Literature DB >> 20583168

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene.

B Isidor1, G Podevin, C Camby, J-F Mosnier, A Chauty, J-M Lyet, P Fergelot, D Lacombe, B Arveiler, A Pelet, J Amiel, A David.   

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Year:  2010        PMID： 20583168     DOI： 10.1002/ajmg.a.33480

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


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  4 in total

Review 1.  Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

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

2.  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 3.  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

Review 4.  Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Authors:  Julien Van Gils; Frederique Magdinier; Patricia Fergelot; Didier Lacombe
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096
  4 in total

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