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Results: 1 to 20 of 253

1.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L.

Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8.

2.

DNA immunoprecipitation semiconductor sequencing (DIP-SC-seq) as a rapid method to generate genome wide epigenetic signatures.

Thomson JP, Fawkes A, Ottaviano R, Hunter JM, Shukla R, Mjoseng HK, Clark R, Coutts A, Murphy L, Meehan RR.

Sci Rep. 2015 May 14;5:9778. doi: 10.1038/srep09778.

3.

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

Hunter JM, Kiefer J, Balak CD, Jooma S, Ahearn ME, Hall JG, Baumbach-Reardon L.

Am J Med Genet A. 2015 May;167A(5):931-73. doi: 10.1002/ajmg.a.36934. Epub 2015 Mar 19.

PMID:
25790323
4.

A large incarcerated Meckel's diverticulum in an inguinal hernia.

Horkoff MJ, Smyth NG, Hunter JM.

Int J Surg Case Rep. 2014;5(12):899-901. doi: 10.1016/j.ijscr.2014.09.036. Epub 2014 Oct 17.

5.

Preoperative management of antiplatelet drugs for a coronary artery stent: how can we hit a moving target?

Vetter TR, Hunter JM Jr, Boudreaux AM.

BMC Anesthesiol. 2014 Aug 23;14:73. doi: 10.1186/1471-2253-14-73. eCollection 2014. Review.

6.

Periprocedural management of patients on anticoagulants.

Williams LA 3rd, Hunter JM Jr, Marques MB, Vetter TR.

Clin Lab Med. 2014 Sep;34(3):595-611. doi: 10.1016/j.cll.2014.06.010. Epub 2014 Jul 21. Review.

PMID:
25168945
7.

Collagenous enterocolitis and maturity onset type 1 diabetes manifesting as uraemia, malabsorption and extreme weight loss.

Hunter JM, Lee HJ, Dettrick A, Tan C.

BMJ Case Rep. 2014 Jul 23;2014. pii: bcr2013200409. doi: 10.1136/bcr-2013-200409.

PMID:
25056300
8.

The perioperative surgical home: how anesthesiology can collaboratively achieve and leverage the triple aim in health care.

Vetter TR, Boudreaux AM, Jones KA, Hunter JM Jr, Pittet JF.

Anesth Analg. 2014 May;118(5):1131-6. doi: 10.1213/ANE.0000000000000228. Review. No abstract available.

PMID:
24781579
9.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

10.

Reply from the authors.

Morrison AP, Hunter JM, Halpern SH, Banerjee A.

Br J Anaesth. 2014 Jan;112(1):174-5. doi: 10.1093/bja/aet457. No abstract available.

11.

Comparative analysis of affinity-based 5-hydroxymethylation enrichment techniques.

Thomson JP, Hunter JM, Nestor CE, Dunican DS, Terranova R, Moggs JG, Meehan RR.

Nucleic Acids Res. 2013 Dec;41(22):e206. doi: 10.1093/nar/gkt1080. Epub 2013 Nov 7. Erratum in: Nucleic Acids Res. . 2014 Apr;42(6):4142.

12.

Deep C diving: mapping the low-abundance modifications of the DNA demethylation pathway.

Thomson JP, Hunter JM, Meehan RR.

Genome Biol. 2013 May 29;14(5):118. doi: 10.1186/gb-2013-14-5-118.

13.

Internal carotid artery stenosis presenting as ipsilateral posterior cerebral artery ischaemic stroke: a lesson to be learnt.

Hunter JM, Tehrani SK, Wood T, Geraghty R.

BMJ Case Rep. 2013 Apr 22;2013. pii: bcr2013008848. doi: 10.1136/bcr-2013-008848.

14.

Dynamic changes in 5-hydroxymethylation signatures underpin early and late events in drug exposed liver.

Thomson JP, Hunter JM, Lempiäinen H, Müller A, Terranova R, Moggs JG, Meehan RR.

Nucleic Acids Res. 2013 Jun;41(11):5639-54. doi: 10.1093/nar/gkt232. Epub 2013 Apr 17.

15.

Effect of intrathecal magnesium in the presence or absence of local anaesthetic with and without lipophilic opioids: a systematic review and meta-analysis.

Morrison AP, Hunter JM, Halpern SH, Banerjee A.

Br J Anaesth. 2013 May;110(5):702-12. doi: 10.1093/bja/aet064. Epub 2013 Mar 26. Review.

16.

Acute Legionella pneumophila infection masquerading as acute alcoholic hepatitis.

Hunter JM, Chan J, Reid AL, Tan C.

BMJ Case Rep. 2013 Jan 25;2013. pii: bcr2012007916. doi: 10.1136/bcr-2012-007916.

17.

Neurochemical profile of dementia pugilistica.

Kokjohn TA, Maarouf CL, Daugs ID, Hunter JM, Whiteside CM, Malek-Ahmadi M, Rodriguez E, Kalback W, Jacobson SA, Sabbagh MN, Beach TG, Roher AE.

J Neurotrauma. 2013 Jun 1;30(11):981-97. doi: 10.1089/neu.2012.2699.

18.

The i-patient or the eyeball patient?

Stride PJ, Wood T, Hunter JM, Reid AL, Walsh S.

Intern Med J. 2012 Dec;42(12):1367. doi: 10.1111/imj.12013. No abstract available.

PMID:
23253005
19.

Cerebral blood flow in Alzheimer's disease.

Roher AE, Debbins JP, Malek-Ahmadi M, Chen K, Pipe JG, Maze S, Belden C, Maarouf CL, Thiyyagura P, Mo H, Hunter JM, Kokjohn TA, Walker DG, Kruchowsky JC, Belohlavek M, Sabbagh MN, Beach TG.

Vasc Health Risk Manag. 2012;8:599-611. doi: 10.2147/VHRM.S34874. Epub 2012 Oct 23.

20.

Staphylococcal sepsis with multiple abscesses, urinary tract infection, and bilateral renal vein thrombosis in a patient with uncontrolled diabetes mellitus.

Khan MA, Hunter JM, Tan C, Seleem M, Stride PJ.

Case Rep Med. 2012;2012:357502. doi: 10.1155/2012/357502. Epub 2012 Oct 11.

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