Mao R - Search Results

1

Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

Tang M, Facchiano A, Rachamadugu R, Calderon F, Mao R, Milanesi L, Marabotti A, Lai K. Tang M, et al. Among authors: mao r. Hum Mutat. 2012 Jul;33(7):1107-15. doi: 10.1002/humu.22093. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22461411 Free PMC article.

2

Masking selected sequence variation by incorporating mismatches into melting analysis probes.

Margraf RL, Mao R, Wittwer CT. Margraf RL, et al. Among authors: mao r. Hum Mutat. 2006 Mar;27(3):269-78. doi: 10.1002/humu.20290. Hum Mutat. 2006. PMID: 16411177

3

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. Bayrak-Toydemir P, et al. Among authors: mao r. Am J Med Genet A. 2006 Oct 15;140(20):2155-62. doi: 10.1002/ajmg.a.31450. Am J Med Genet A. 2006. PMID: 16969873

4

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Gedge F, et al. Among authors: mao r. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.

5

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Calderon FR, et al. Among authors: mao r. Hum Mutat. 2007 Oct;28(10):939-43. doi: 10.1002/humu.20544. Hum Mutat. 2007. PMID: 17486650

6

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R. Calderon FR, et al. Among authors: mao r. J Inherit Metab Dis. 2007 Oct;30(5):818. doi: 10.1007/s10545-007-0461-x. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876724

7

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E. Jama M, et al. Among authors: mao r. J Mol Diagn. 2007 Nov;9(5):618-23. doi: 10.2353/jmoldx.2007.070027. Epub 2007 Sep 20. J Mol Diagn. 2007. PMID: 17884932 Free PMC article.

8

Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.

Bornhorst JA, Calderon FR, Procter M, Tang W, Ashwood ER, Mao R. Bornhorst JA, et al. Among authors: mao r. J Clin Pathol. 2007 Oct;60(10):1124-8. doi: 10.1136/jcp.2006.042762. J Clin Pathol. 2007. PMID: 17906067 Free PMC article.

9

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL, Crockett DK, Krautscheid PM, Seamons R, Calderon FR, Wittwer CT, Mao R. Margraf RL, et al. Among authors: mao r. Hum Mutat. 2009 Apr;30(4):548-56. doi: 10.1002/humu.20928. Hum Mutat. 2009. PMID: 19177457

10

RET mutation scanning update: exon 15.

Margraf RL, Calderon FR, Mao R, Wittwer CT. Margraf RL, et al. Among authors: mao r. Clin Chem. 2009 Nov;55(11):2059-61. doi: 10.1373/clinchem.2009.132209. Epub 2009 Sep 10. Clin Chem. 2009. PMID: 19745057 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,788 results

Search Page

Filters