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Items: 1 to 50 of 212

1.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans L, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Majumdar A, Straub V, Bonnemann C, MacArthur DG, Davis MR, Cooper ST.

Hum Mutat. 2019 Oct 29. doi: 10.1002/humu.23938. [Epub ahead of print]

PMID:
31660661
2.

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Bryen SJ, Joshi H, Evesson FJ, Girard C, Ghaoui R, Waddell LB, Testa AC, Cummings B, Arbuckle S, Graf N, Webster R, MacArthur DG, Laing NG, Davis MR, Lührmann R, Cooper ST.

Am J Hum Genet. 2019 Sep 5;105(3):573-587. doi: 10.1016/j.ajhg.2019.07.013. Epub 2019 Aug 22.

PMID:
31447096
3.

Posaconazole Serum Drug Levels Associated with Pseudohyperaldosteronism.

Nguyen MH, Davis MR, Wittenberg R, Mchardy I, Baddley JW, Young BY, Odermatt A, Thompson GR.

Clin Infect Dis. 2019 Aug 12. pii: ciz741. doi: 10.1093/cid/ciz741. [Epub ahead of print]

PMID:
31403165
4.

Ibrexafungerp: A novel oral glucan synthase inhibitor.

Davis MR, Donnelley MA, Thompson GR.

Med Mycol. 2019 Jul 25. pii: myz083. doi: 10.1093/mmy/myz083. [Epub ahead of print]

PMID:
31342066
5.

Thromboelastography on-the-go: Evaluation of the TEG 6s device during ground and high-altitude Aeromedical Evacuation with extracorporeal life support.

Roberts TR, Jones JA, Choi JH, Sieck KN, Harea GT, Wendorff DS, Beely BM, Karaliou V, Cap AP, Davis MR, Cancio LC, Sams VG, Batchinsky AI.

J Trauma Acute Care Surg. 2019 Jul;87(1S Suppl 1):S119-S127. doi: 10.1097/TA.0000000000002224.

PMID:
31246915
6.

Winds of change in military medicine and combat casualty care.

Davis MR, Rasmussen TE.

J Trauma Acute Care Surg. 2019 Jul;87(1S Suppl 1):S1-S2. doi: 10.1097/TA.0000000000002349. No abstract available.

PMID:
31246898
7.

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PMID:
31130376
8.

Winds of Change in Military Medicine and Combat Casualty Care.

Davis MR, Rasmussen TE.

J Trauma Acute Care Surg. 2019 Apr 25. doi: 10.1097/TA.0000000000002349. [Epub ahead of print] No abstract available.

PMID:
31045740
9.

Nuclear eIF4E Stimulates 3'-End Cleavage of Target RNAs.

Davis MR, Delaleau M, Borden KLB.

Cell Rep. 2019 Apr 30;27(5):1397-1408.e4. doi: 10.1016/j.celrep.2019.04.008.

10.

The need for dried plasma - a national issue.

Pusateri AE, Butler FK, Shackelford SA, Sperry JL, Moore EE, Cap AP, Taylor AL, Homer MJ, Hoots WK, Weiskopf RB, Davis MR.

Transfusion. 2019 Apr;59(S2):1587-1592. doi: 10.1111/trf.15261.

PMID:
30980738
11.

Increased central cholinergic drive contributes to the apneas of serotonin-deficient rat pups during active sleep.

Davis MR, Magnusson JL, Cummings KJ.

J Appl Physiol (1985). 2019 May 1;126(5):1175-1183. doi: 10.1152/japplphysiol.00909.2018. Epub 2019 Feb 14.

PMID:
30763168
12.

Thromboelastography On-the-Go: Evaluation of the TEG 6s Device During Ground and High-Altitude Aeromedical Evacuation with Extracorporeal Life Support.

Roberts TR, Jones JA, Choi JH, Sieck KN, Harea GT, Wendorff DS, Beely BM, Karaliou V, Cap AP, Davis MR, Cancio LC, Sams VG, Batchinsky AI.

J Trauma Acute Care Surg. 2019 Feb 7. doi: 10.1097/TA.0000000000002224. [Epub ahead of print]

PMID:
30741883
13.

Graft-implanted, enzyme responsive, tacrolimus-eluting hydrogel enables long-term survival of orthotopic porcine limb vascularized composite allografts: A proof of concept study.

Fries CA, Lawson SD, Wang LC, Slaughter KV, Vemula PK, Dhayani A, Joshi N, Karp JM, Rickard RF, Gorantla VS, Davis MR.

PLoS One. 2019 Jan 24;14(1):e0210914. doi: 10.1371/journal.pone.0210914. eCollection 2019.

14.

Composite Graft Pretreatment With Hydrogen Sulfide Delays the Onset of Acute Rejection.

Fries CA, Lawson SD, Wang LC, Spencer JR, Roth M, Rickard RF, Gorantla VS, Davis MR.

Ann Plast Surg. 2019 Apr;82(4):452-458. doi: 10.1097/SAP.0000000000001693.

PMID:
30628928
15.

Tolerability of long-term fluconazole therapy.

Davis MR, Nguyen MH, Donnelley MA, Thompson Iii GR.

J Antimicrob Chemother. 2019 Mar 1;74(3):768-771. doi: 10.1093/jac/dky501.

PMID:
30535104
16.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
17.

A Hyperbaric Warm Perfusion System Preserves Tissue Composites Ex vivo and Delays the Onset of Acute Rejection.

Fries CA, Villamaria CY, Spencer JR, Lawson S, Wang L, Raj T, Wolf EG, Parida BK, Gorantla VS, Rickard RF, Davis MR.

J Reconstr Microsurg. 2019 Feb;35(2):97-107. doi: 10.1055/s-0038-1667298. Epub 2018 Aug 12.

PMID:
30099732
18.

Reintervention Rates After Myomectomy, Endometrial Ablation, and Uterine Artery Embolization for Patients with Uterine Fibroids.

Davis MR, Soliman AM, Castelli-Haley J, Snabes MC, Surrey ES.

J Womens Health (Larchmt). 2018 Oct;27(10):1204-1214. doi: 10.1089/jwh.2017.6752. Epub 2018 Aug 7.

19.

Launch of the National Trauma Research Repository coincides with new data sharing requirements.

Price MA, Bixby PJ, Phillips MJ, Beilman GJ, Bulger EM, Davis MR, McAuliffe MJ, Rasmussen TE, Salinas J, Smith SL, Spott MA, Weireter LJ, Jenkins DH.

Trauma Surg Acute Care Open. 2018 Jun 27;3(1):e000193. doi: 10.1136/tsaco-2018-000193. eCollection 2018. No abstract available.

20.

The new reckoning: The Combat Casualty Care Research Program responds to real and present challenges in military operational projections.

Davis MR, Rasmussen TE, Holcomb BR.

J Trauma Acute Care Surg. 2018 Jul;85(1S Suppl 2):S1-S3. doi: 10.1097/TA.0000000000001981.

PMID:
29953030
21.

A Cyclin E Centered Genetic Network Contributes to Alcohol-Induced Variation in Drosophila Development.

Morozova TV, Hussain Y, McCoy LJ, Zhirnov EV, Davis MR, Pray VA, Lyman RA, Duncan LH, McMillen A, Jones A, Mackay TFC, Anholt RRH.

G3 (Bethesda). 2018 Jul 31;8(8):2643-2653. doi: 10.1534/g3.118.200260.

22.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.

PMID:
29781137
24.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26. No abstract available.

25.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

26.

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM.

Brain Behav. 2018 Feb 21;8(4):e00919. doi: 10.1002/brb3.919. eCollection 2018 Apr.

27.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

28.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
29.

Combined Oocyte Retrieval and Robot-assisted Hysterectomy in a Super Morbidly Obese Patient with Endometrial Carcinoma.

Chung EH, Brady PC, Smith KK, Davis MR, Muto MG, Ashby RK, Ginsburg ES.

Anticancer Res. 2018 Mar;38(3):1467-1470.

PMID:
29491073
30.

Clinical Utility Gene Card for: Becker muscular dystrophy.

Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. No abstract available.

31.

CUGC for Duchenne muscular dystrophy (DMD).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 May;26(5):749-757. doi: 10.1038/s41431-017-0013-2. Epub 2018 Jan 12. No abstract available.

32.

AUDITORY EVOKED POTENTIALS AND BEHAVIORAL CONSIDERATIONS WITH HEARING LOSS IN SMALL CETACEANS: APPLICATION AS A STANDARD DIAGNOSTIC TEST IN HEALTH ASSESSMENT.

Strobel MM, Houser DS, Moore KT, Davis MR, Clough PL, Staggs LA, Eskelinen HC, Bates RJ, Walsh MT.

J Zoo Wildl Med. 2017 Dec;48(4):979-986. doi: 10.1638/2017-0045R.1.

PMID:
29297800
33.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST.

Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.

34.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
35.

Racioethnic Differences in Human Posterior Scleral and Optic Nerve Stump Deformation.

Tamimi EA, Pyne JD, Muli DK, Axman KF, Howerton SJ, Davis MR, Girkin CA, Vande Geest JP.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4235-4246. doi: 10.1167/iovs.17-22141.

36.

Human Papillomavirus and Its Testing Assays, Cervical Cancer Screening, and Vaccination.

Zhu Y, Wang Y, Hirschhorn J, Welsh KJ, Zhao Z, Davis MR, Feldman S.

Adv Clin Chem. 2017;81:135-192. doi: 10.1016/bs.acc.2017.01.004. Epub 2017 Mar 18. Review.

PMID:
28629588
37.

Genetics of alcohol consumption in Drosophila melanogaster.

Fochler S, Morozova TV, Davis MR, Gearhart AW, Huang W, Mackay TFC, Anholt RRH.

Genes Brain Behav. 2017 Sep;16(7):675-685. doi: 10.1111/gbb.12399. Epub 2017 Jul 21.

38.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.

PMID:
28554554
39.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

40.

Pseudomonas aeruginosa Alginate Overproduction Promotes Coexistence with Staphylococcus aureus in a Model of Cystic Fibrosis Respiratory Infection.

Limoli DH, Whitfield GB, Kitao T, Ivey ML, Davis MR Jr, Grahl N, Hogan DA, Rahme LG, Howell PL, O'Toole GA, Goldberg JB.

MBio. 2017 Mar 21;8(2). pii: e00186-17. doi: 10.1128/mBio.00186-17.

41.

Vascularized Composite Allograft Preservation: Ubi Sumus?

Gorantla VS, Davis MR.

Transplantation. 2017 Mar;101(3):469-470. doi: 10.1097/TP.0000000000001599. No abstract available.

PMID:
27941429
42.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG.

Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19.

PMID:
27751653
43.

Self-Reported Physical Tasks and Exercise Training in Special Weapons and Tactics (SWAT) Teams.

Davis MR, Easter RL, Carlock JM, Weiss LW, Longo EA, Smith LM, Dawes JJ, Schilling BK.

J Strength Cond Res. 2016 Nov;30(11):3242-3248.

PMID:
26950355
44.

Epigenetic remodeling regulates transcriptional changes between ovarian cancer and benign precursors.

Elias KM, Emori MM, Westerling T, Long H, Budina-Kolomets A, Li F, MacDuffie E, Davis MR, Holman A, Lawney B, Freedman ML, Quackenbush J, Brown M, Drapkin R.

JCI Insight. 2016 Aug 18;1(13). pii: e87988.

45.

A Porcine Orthotopic Forelimb Vascularized Composite Allotransplantation Model: Technical Considerations and Translational Implications.

Fries CA, Villamaria CY, Spencer JR, Rickard RF, Gorantla VS, Davis MR.

Plast Reconstr Surg. 2016 Sep;138(3):461e-71e. doi: 10.1097/PRS.0000000000002451.

PMID:
27556621
46.

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG.

Semin Cell Dev Biol. 2017 Apr;64:160-170. doi: 10.1016/j.semcdb.2016.08.002. Epub 2016 Aug 9.

PMID:
27519468
47.

Datasets of genes coexpressed with FBN1 in mouse adipose tissue and during human adipogenesis.

Davis MR, Arner E, Duffy CR, De Sousa PA, Dahlman I, Arner P, Summers KM.

Data Brief. 2016 Jul 5;8:851-7. doi: 10.1016/j.dib.2016.06.055. eCollection 2016 Sep.

48.

Dismounted Complex Blast Injuries: A Comprehensive Review of the Modern Combat Experience.

Cannon JW, Hofmann LJ, Glasgow SC, Potter BK, Rodriguez CJ, Cancio LC, Rasmussen TE, Fries CA, Davis MR, Jezior JR, Mullins RJ, Elster EA.

J Am Coll Surg. 2016 Oct;223(4):652-664.e8. doi: 10.1016/j.jamcollsurg.2016.07.009. Epub 2016 Jul 30. Review. No abstract available.

PMID:
27481095
49.

Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.

Huynh W, Davis MR.

Muscle Nerve. 2017 Jan;55(1):E2-E3. doi: 10.1002/mus.25254. Epub 2016 Jul 29. No abstract available.

PMID:
27421963
50.

Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.

Davis MR, Arner E, Duffy CR, De Sousa PA, Dahlman I, Arner P, Summers KM.

Mol Genet Metab. 2016 Sep;119(1-2):174-85. doi: 10.1016/j.ymgme.2016.06.009. Epub 2016 Jun 23.

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