Literature DB >> 10102714

Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.

S Ellard1, M P Bulman, T M Frayling, L I Allen, M J Dronsfield, C J Tack, A T Hattersley.   

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Year:  1999        PMID： 10102714     DOI： 10.2337/diabetes.48.4.921

Source DB:  PubMed          Journal:  Diabetes        ISSN： 0012-1797            Impact factor:   9.461


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  7 in total

Review 1.  Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Authors:  Z Tang; R P Tracy
Journal:  J Thromb Thrombolysis       Date:  2001-02       Impact factor: 2.300

2.  Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Authors:  Petra Dusatkova; Marketa Pavlikova; Lenka Elblova; Vladyslav Larionov; Klara Vesela; Katerina Kolarova; Zdenek Sumnik; Jan Lebl; Stepanka Pruhova
Journal:  Acta Diabetol       Date:  2022-06-23       Impact factor: 4.087

3.  Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.

Authors:  Naohisa Takaoka; Tatsuya Takayama; Miki Miyazaki; Masao Nagata; Seiichiro Ozono
Journal:  Urol Res       Date:  2008-11-04

4.  Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

Authors:  Kirsten J Ward; Sian Ellard; Chittaranjan S Yajnik; Timothy M Frayling; Andrew T Hattersley; Prathyusha N S Venigalla; Giriraj R Chandak
Journal:  Lipids Health Dis       Date:  2006-05-02       Impact factor: 3.876

5.  Targeted sequencing identifies novel variants in common and rare MODY genes.

Authors:  Lucas S de Santana; Lilian A Caetano; Aline D Costa-Riquetto; Pedro C Franco; Renata P Dotto; André F Reis; Letícia S Weinert; Sandra P Silveiro; Marcio F Vendramini; Flaviene A do Prado; Giovanna C P Abrahão; Ana Gregória F P de Almeida; Maria da G Rodrigues Tavares; Wagner Rodrigo B Gonçalves; Augusto C Santomauro Junior; Bruno Halpern; Alexander A L Jorge; Marcia Nery; Milena G Teles
Journal:  Mol Genet Genomic Med       Date:  2019-10-08       Impact factor: 2.183

6.  An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

Authors:  Rieko Kosugi; Hiroyuki Ariyasu; Chika Kyo; Takako Yonemoto; Tatsuo Ogawa; Masato Kotani; Kohei Saito; Tatsuhide Inoue; Takeshi Usui
Journal:  J Endocr Soc       Date:  2022-07-31

7.  Evaluation of parameters in mixed male DNA profiles for the Identifiler® multiplex system.

Authors:  Na Hu; Bin Cong; Tao Gao; Rong Hu; Yi Chen; Hui Tang; Luyan Xue; Shujin Li; Chunling Ma
Journal:  Int J Mol Med       Date:  2014-05-12       Impact factor: 4.101
  7 in total

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