Literature DB >> 26374735

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.

Parag M Tamhankar1, Rashid Merchant2, Ami Shah2.   

Abstract

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Year:  2015        PMID： 26374735     DOI： 10.1007/s12098-015-1891-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Multilocus association of genetic variants in MLL, CREBBP, EP300, and TOP2A with childhood acute lymphoblastic leukemia in Hispanics from Texas.

Authors:  Duangjai Piwkham; Jonathan A L Gelfond; Budsaba Rerkamnuaychoke; Samart Pakakasama; Vivienne I Rebel; Brad H Pollock; Naomi J Winick; Anderson B Collier; Gail E Tomlinson; Joke Beuten
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2011-04-14       Impact factor: 4.254

2.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

3.  Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

Authors:  Oliver Bartsch; Janette Labonté; Beate Albrecht; Dagmar Wieczorek; Stanislav Lechno; Ulrich Zechner; Thomas Haaf
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

4.  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

5.  Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Authors:  G Negri; D Milani; P Colapietro; F Forzano; M Della Monica; D Rusconi; L Consonni; L G Caffi; P Finelli; G Scarano; C Magnani; A Selicorni; S Spena; L Larizza; C Gervasini
Journal:  Clin Genet       Date:  2014-02-17       Impact factor: 4.438
  5 in total
  1 in total

1.  First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

Authors:  María López; Verónica Seidel; Paula Santibáñez; Cristina Cervera-Acedo; Pedro Castro-de Castro; Elena Domínguez-Garrido
Journal:  BMC Med Genet       Date:  2016-12-13       Impact factor: 2.103
  1 in total

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