Literature DB >> 28891213

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

Tao Cai1,2, Xiang Chen3, Jinchen Li1, Bingwu Xiang3, Liu Yang3, Yidian Liu3, Qiuli Chen4, Zhouwen He5, Kevin Sun6, P Paul Liu6.   

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Year:  2017        PMID： 28891213     DOI： 10.1002/ajh.24902

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  5 in total

1.  A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Authors:  Georg Christoph Korenke; Björn Schulte; Saskia Biskup; John Neidhardt; Marta Owczarek-Lipska
Journal:  Mol Syndromol       Date:  2020-06-13

2.  Deciphering clinical significance of BCL11A isoforms and protein expression roles in triple-negative breast cancer subtype.

Authors:  Andrea Angius; Giovanna Pira; Paolo Cossu-Rocca; Giovanni Sotgiu; Laura Saderi; Maria Rosaria Muroni; Patrizia Virdis; Daniela Piras; Rallo Vincenzo; Ciriaco Carru; Donatella Coradduzza; Maria Gabriela Uras; Pierina Cottu; Alessandro Fancellu; Sandra Orrù; Paolo Uva; Maria Rosaria De Miglio
Journal:  J Cancer Res Clin Oncol       Date:  2022-08-28       Impact factor: 4.322

3.  Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.

Authors:  Jianjun Xiong; Bingwu Xiang; Xiang Chen; Tao Cai
Journal:  Medicine (Baltimore)       Date:  2019-03       Impact factor: 1.817

4.  A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia.

Authors:  Haixia Zhang; Bingwu Xiang; Hui Chen; Xiang Chen; Tao Cai
Journal:  BMC Med Genet       Date:  2019-03-06       Impact factor: 2.103

5.  A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Authors:  Jianling Ji; Lishuang Shen; Moiz Bootwalla; Catherine Quindipan; Tatiana Tatarinova; Dennis T Maglinte; Jonathan Buckley; Gordana Raca; Sulagna C Saitta; Jaclyn A Biegel; Xiaowu Gai
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-04-01
  5 in total

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