Literature DB >> 21704268

A multiplex approach to the molecular diagnosis of β-thalassemia.

Daniel E Sabath, Harvey A Greisman.   

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Year:  2011        PMID： 21704268      PMCID： PMC3123807          DOI： 10.1016/j.jmoldx.2011.05.001

Source DB:  PubMed          Journal:  J Mol Diagn        ISSN： 1525-1578            Impact factor:   5.568


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  6 in total

1.  Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

Authors:  S S Chong; C D Boehm; D R Higgs; G R Cutting
Journal:  Blood       Date:  2000-01-01       Impact factor: 22.113

2.  A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.

Authors:  Fu Xiong; Qiuying Huang; Xiaoyun Chen; Yuqiu Zhou; Xinhua Zhang; Ren Cai; Yajun Chen; Jiansheng Xie; Shanwei Feng; Xiaofeng Wei; Qizhi Xiao; Tianlang Zhang; Shiqiang Luo; Xuehuang Yang; Ying Hao; Yanxia Qu; Qingge Li; Xiangmin Xu
Journal:  J Mol Diagn       Date:  2011-05-06       Impact factor: 5.568

3.  Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Authors:  Tom Walsh; Ming K Lee; Silvia Casadei; Anne M Thornton; Sunday M Stray; Christopher Pennil; Alex S Nord; Jessica B Mandell; Elizabeth M Swisher; Mary-Claire King
Journal:  Proc Natl Acad Sci U S A       Date:  2010-06-28       Impact factor: 11.205

Review 4.  The inherited diseases of hemoglobin are an emerging global health burden.

Authors:  David J Weatherall
Journal:  Blood       Date:  2010-03-16       Impact factor: 22.113

5.  Evaluation of TP53 mutations with the AmpliChip p53 research test in chronic lymphocytic leukemia: correlation with clinical outcome and gene expression profiling.

Authors:  Sabina Chiaretti; Simona Tavolaro; Marilisa Marinelli; Monica Messina; Ilaria Del Giudice; Francesca Romana Mauro; Simona Santangelo; Alfonso Piciocchi; Nadia Peragine; Sim Truong; Nancy Patten; Emanuela Maria Ghia; Isabella Torrente; Maria Stefania De Propris; Mauro Nanni; Jeff Lawrence; Anna Guarini; Robin Foà
Journal:  Genes Chromosomes Cancer       Date:  2011-01-13       Impact factor: 5.006

6.  Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Authors:  C L Harteveld; A Voskamp; M Phylipsen; N Akkermans; J T den Dunnen; S J White; P C Giordano
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318
  6 in total

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