Calderon F - Search Results

1

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: calderon f. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.

2

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: calderon f. 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

3

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. 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

4

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

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

5

Functional and molecular studies in primary carnitine deficiency.

Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N. Frigeni M, et al. Hum Mutat. 2017 Dec;38(12):1684-1699. doi: 10.1002/humu.23315. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28841266 Free PMC article.

6

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: calderon f. 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.

7

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: calderon fr. Hum Mutat. 2009 Apr;30(4):548-56. doi: 10.1002/humu.20928. Hum Mutat. 2009. PMID: 19177457

8

RET mutation scanning update: exon 15.

Margraf RL, Calderon FR, Mao R, Wittwer CT. Margraf RL, et al. 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.

9

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. J Clin Pathol. 2007 Oct;60(10):1124-8. doi: 10.1136/jcp.2006.042762. J Clin Pathol. 2007. PMID: 17906067 Free PMC article.

10

Two-Dimensional and Three-Dimensional Changes in Deformational Head Shapes During Repositioning Therapy and Cranial Remolding Treatment.

Graham T, Wang J, Calderon FA, Moses V, Hallac RR. Graham T, et al. Among authors: calderon fa. J Clin Med. 2024 Dec 17;13(24):7689. doi: 10.3390/jcm13247689. J Clin Med. 2024. PMID: 39768612 Free PMC article.

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