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Items: 20

1.

PharmGKB summary: very important pharmacogene information for MT-RNR1.

Barbarino JM, McGregor TL, Altman RB, Klein TE.

Pharmacogenet Genomics. 2016 Dec;26(12):558-567. No abstract available.

PMID:
27654872
2.

Idiopathic subglottic stenosis is associated with activation of the inflammatory IL-17A/IL-23 axis.

Gelbard A, Katsantonis NG, Mizuta M, Newcomb D, Rotsinger J, Rousseau B, Daniero JJ, Edell ES, Ekbom DC, Kasperbauer JL, Hillel AT, Yang L, Garrett CG, Netterville JL, Wootten CT, Francis DO, Stratton C, Jenkins K, McGregor TL, Gaddy JA, Blackwell TS, Drake WP.

Laryngoscope. 2016 Nov;126(11):E356-E361. doi: 10.1002/lary.26098.

PMID:
27296163
3.

Molecular analysis of idiopathic subglottic stenosis for Mycobacterium species.

Gelbard A, Katsantonis NG, Mizuta M, Newcomb D, Rotsinger J, Rousseau B, Daniero JJ, Edell ES, Ekbom DC, Kasperbauer JL, Hillel AT, Yang L, Garrett CG, Netterville JL, Wootten CT, Francis DO, Stratton C, Jenkins K, McGregor TL, Gaddy JA, Blackwell TS, Drake WP.

Laryngoscope. 2016 Jun 14. doi: 10.1002/lary.26097. [Epub ahead of print]

PMID:
27295947
4.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, K├Ânig K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G.

Lancet. 2015 Nov 14;386(10007):1955-63. doi: 10.1016/S0140-6736(15)00124-5.

PMID:
26343839
5.

Acute Kidney Injury Incidence in Noncritically Ill Hospitalized Children, Adolescents, and Young Adults: A Retrospective Observational Study.

McGregor TL, Jones DP, Wang L, Danciu I, Bridges BC, Fleming GM, Shirey-Rice J, Chen L, Byrne DW, Van Driest SL.

Am J Kidney Dis. 2016 Mar;67(3):384-90. doi: 10.1053/j.ajkd.2015.07.019.

PMID:
26319754
6.

Attitudes of clinicians following large-scale pharmacogenomics implementation.

Peterson JF, Field JR, Shi Y, Schildcrout JS, Denny JC, McGregor TL, Van Driest SL, Pulley JM, Lubin IM, Laposata M, Roden DM, Clayton EW.

Pharmacogenomics J. 2016 Aug;16(4):393-8. doi: 10.1038/tpj.2015.57.

7.

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy.

Van Driest SL, McGregor TL, Velez Edwards DR, Saville BR, Kitchner TE, Hebbring SJ, Brilliant M, Jouni H, Kullo IJ, Creech CB, Kannankeril PJ, Vear SI, Brothers KB, Bowton EA, Shaffer CM, Patel N, Delaney JT, Bradford Y, Wilson S, Olson LM, Crawford DC, Potts AL, Ho RH, Roden DM, Denny JC.

PLoS One. 2015 Jun 1;10(6):e0127791. doi: 10.1371/journal.pone.0127791.

8.

Pharmacogenetics in clinical pediatrics: challenges and strategies.

Van Driest SL, McGregor TL.

Per Med. 2013 Sep;10(7). doi: 10.2217/pme.13.70.

9.

Opioid use after cardiac surgery in children with Down syndrome.

Van Driest SL, Shah A, Marshall MD, Xu H, Smith AH, McGregor TL, Kannankeril PJ.

Pediatr Crit Care Med. 2013 Nov;14(9):862-8. doi: 10.1097/PCC.0b013e31829f5d9d.

10.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV.

Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241.

11.

Inclusion of pediatric samples in an opt-out biorepository linking DNA to de-identified medical records: pediatric BioVU.

McGregor TL, Van Driest SL, Brothers KB, Bowton EA, Muglia LJ, Roden DM.

Clin Pharmacol Ther. 2013 Feb;93(2):204-11. doi: 10.1038/clpt.2012.230.

12.

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.

Westbrook MJ, Wright MF, Van Driest SL, McGregor TL, Denny JC, Zuvich RL, Clayton EW, Brothers KB.

Genet Med. 2013 May;15(5):325-31. doi: 10.1038/gim.2012.147. Review.

13.

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ.

Clin Genet. 2012 Jan;81(1):93-5. doi: 10.1111/j.1399-0004.2011.01700.x. No abstract available.

14.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614.

15.

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.

McGregor TL, Gurnett CA, Dobbs MB, Wise CA, Morcuende JA, Morgan TM, Menon R, Muglia LJ.

BMC Med Genet. 2011 Jul 8;12:92. doi: 10.1186/1471-2350-12-92.

16.

An evolutionary genomic approach to identify genes involved in human birth timing.

Plunkett J, Doniger S, Orabona G, Morgan T, Haataja R, Hallman M, Puttonen H, Menon R, Kuczynski E, Norwitz E, Snegovskikh V, Palotie A, Peltonen L, Fellman V, DeFranco EA, Chaudhari BP, McGregor TL, McElroy JJ, Oetjens MT, Teramo K, Borecki I, Fay J, Muglia L.

PLoS Genet. 2011 Apr;7(4):e1001365. doi: 10.1371/journal.pgen.1001365.

17.

Specialized Pediatric Growth Charts For Electronic Health Record Systems: the example of Down syndrome.

Rosenbloom ST, McGregor TL, Chen Q, An AQ, Hsu S, Dupont WD.

AMIA Annu Symp Proc. 2010 Nov 13;2010:687-91.

18.

Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth.

Plunkett J, Doniger S, Morgan T, Haataja R, Hallman M, Puttonen H, Menon R, Kuczynski E, Norwitz E, Snegovskikh V, Palotie A, Peltonen L, Fellman V, DeFranco EA, Chaudhari BP, Oates J, Boutaud O, McGregor TL, McElroy JJ, Teramo K, Borecki I, Fay JC, Muglia LJ.

BMC Med Genomics. 2010 Dec 24;3:62. doi: 10.1186/1755-8794-3-62.

19.

Consanguinity mapping of congenital heart disease in a South Indian population.

McGregor TL, Misri A, Bartlett J, Orabona G, Friedman RD, Sexton D, Maheshwari S, Morgan TM.

PLoS One. 2010 Apr 21;5(4):e10286. doi: 10.1371/journal.pone.0010286.

20.

Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism.

Chiang PW, Spector E, McGregor TL.

Am J Med Genet A. 2009 Dec;149A(12):2739-44. doi: 10.1002/ajmg.a.33128.

PMID:
19938076
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