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Items: 1 to 50 of 484

1.

A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.

Altıner Ş, Raymond L.

Fetal Pediatr Pathol. 2019 Oct 14:1-5. doi: 10.1080/15513815.2019.1675833. [Epub ahead of print]

PMID:
31608750
2.

Correction: Creating genetic reports that are understood by nonspecialists: a case study.

Recchia G, Chiappi A, Chandratillake G, Raymond L, Freeman ALJ.

Genet Med. 2019 Sep 24. doi: 10.1038/s41436-019-0663-2. [Epub ahead of print]

PMID:
31548640
3.

Oncology Patients Are High Cost Outliers in Total Joint Replacement Bundled Payment Systems.

Woelber E, Gundle KR, Geddes J, Schabel KL, Hayden JB, Hasan SR, Raymond LM, Doung YC.

J Arthroplasty. 2019 Aug 19. pii: S0883-5403(19)30761-2. doi: 10.1016/j.arth.2019.08.030. [Epub ahead of print]

PMID:
31521444
4.

Creating genetic reports that are understood by nonspecialists: a case study.

Recchia G, Chiappi A, Chandratillake G, Raymond L, Freeman ALJ.

Genet Med. 2019 Sep 11. doi: 10.1038/s41436-019-0649-0. [Epub ahead of print] Erratum in: Genet Med. 2019 Sep 24;:.

PMID:
31506646
5.

Workplace Wellness Programs and Health Outcomes.

Raymond LW, Morton SL, Yanni A.

JAMA. 2019 Sep 3;322(9):892-893. doi: 10.1001/jama.2019.9821. No abstract available.

PMID:
31479130
6.

Antisense oligonucleotides extend survival of prion-infected mice.

Raymond GJ, Zhao HT, Race B, Raymond LD, Williams K, Swayze EE, Graffam S, Le J, Caron T, Stathopoulos J, O'Keefe R, Lubke LL, Reidenbach AG, Kraus A, Schreiber SL, Mazur C, Cabin DE, Carroll JB, Minikel EV, Kordasiewicz H, Caughey B, Vallabh SM.

JCI Insight. 2019 Jul 30;5. pii: 131175. doi: 10.1172/jci.insight.131175.

7.

Selenium health benefit values provide a reliable index of seafood benefits vs. risks.

Ralston NVC, Kaneko JJ, Raymond LJ.

J Trace Elem Med Biol. 2019 Sep;55:50-57. doi: 10.1016/j.jtemb.2019.05.009. Epub 2019 May 31.

PMID:
31345365
8.

Dysfunctional striatal dopamine signaling in Huntington's disease.

Koch ET, Raymond LA.

J Neurosci Res. 2019 Dec;97(12):1636-1654. doi: 10.1002/jnr.24495. Epub 2019 Jul 15. Review.

PMID:
31304622
9.

Impairment and Restoration of Homeostatic Plasticity in Cultured Cortical Neurons From a Mouse Model of Huntington Disease.

Smith-Dijak AI, Nassrallah WB, Zhang LYJ, Geva M, Hayden MR, Raymond LA.

Front Cell Neurosci. 2019 May 16;13:209. doi: 10.3389/fncel.2019.00209. eCollection 2019.

10.

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Doreille A, Raymond L, Mesnard L.

N Engl J Med. 2019 May 23;380(21):2079-2080. doi: 10.1056/NEJMc1903250. No abstract available.

PMID:
31116937
11.

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".

Chatron N, Raymond L, Schluth-Bolard C, Bardel C, Huissoud C, Nouchy M, Sanlaville D, Massoud M.

Prenat Diagn. 2019 Jun;39(7):571-572. doi: 10.1002/pd.5456. Epub 2019 May 20. No abstract available.

PMID:
31106873
12.

Alterations in synaptic function and plasticity in Huntington disease.

Smith-Dijak AI, Sepers MD, Raymond LA.

J Neurochem. 2019 Aug;150(4):346-365. doi: 10.1111/jnc.14723. Epub 2019 Jun 6. Review.

PMID:
31095731
13.

Preventing Diabetes in the Workplace: Effects of Coaching and Monetary Incentives.

Raymond LW, Roy DM, Mullinax SL, Yanni A, Pentek KC, Isaacs SE.

J Occup Environ Med. 2019 Jul;61(7):e308-e311. doi: 10.1097/JOM.0000000000001611.

PMID:
31022099
14.

Lipoarabinomannan in sputum to detect bacterial load and treatment response in patients with pulmonary tuberculosis: Analytic validation and evaluation in two cohorts.

Kawasaki M, Echiverri C, Raymond L, Cadena E, Reside E, Gler MT, Oda T, Ito R, Higashiyama R, Katsuragi K, Liu Y.

PLoS Med. 2019 Apr 12;16(4):e1002780. doi: 10.1371/journal.pmed.1002780. eCollection 2019 Apr.

15.

Altered Regulation of Striatal Neuronal N-Methyl-D-Aspartate Receptor Trafficking by Palmitoylation in Huntington Disease Mouse Model.

Kang R, Wang L, Sanders SS, Zuo K, Hayden MR, Raymond LA.

Front Synaptic Neurosci. 2019 Feb 21;11:3. doi: 10.3389/fnsyn.2019.00003. eCollection 2019.

16.

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.

Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6.

17.

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration.

Borooah S, Stanton CM, Marsh J, Carss KJ, Waseem N, Biswas P, Agorogiannis G, Raymond L, Arno G, Webster AR.

Ophthalmic Genet. 2018 Dec;39(6):763-770. doi: 10.1080/13816810.2018.1546406. Epub 2018 Nov 19.

PMID:
30451557
18.

Direct assessment of presynaptic modulation of cortico-striatal glutamate release in a Huntington's disease mouse model.

Koch ET, Woodard CL, Raymond LA.

J Neurophysiol. 2018 Dec 1;120(6):3077-3084. doi: 10.1152/jn.00638.2018. Epub 2018 Oct 17.

PMID:
30332323
19.

Huntingtin suppression restores cognitive function in a mouse model of Huntington's disease.

Southwell AL, Kordasiewicz HB, Langbehn D, Skotte NH, Parsons MP, Villanueva EB, Caron NS, Østergaard ME, Anderson LM, Xie Y, Cengio LD, Findlay-Black H, Doty CN, Fitsimmons B, Swayze EE, Seth PP, Raymond LA, Frank Bennett C, Hayden MR.

Sci Transl Med. 2018 Oct 3;10(461). pii: eaar3959. doi: 10.1126/scitranslmed.aar3959.

PMID:
30282695
20.

Acute Hormonal Response to Kettlebell Swing Exercise Differs Depending on Load, Even When Total Work Is Normalized.

Raymond LM, Renshaw D, Duncan MJ.

J Strength Cond Res. 2018 Sep 28. doi: 10.1519/JSC.0000000000002862. [Epub ahead of print]

PMID:
30273291
21.

Crop pests and predators exhibit inconsistent responses to surrounding landscape composition.

Karp DS, Chaplin-Kramer R, Meehan TD, Martin EA, DeClerck F, Grab H, Gratton C, Hunt L, Larsen AE, Martínez-Salinas A, O'Rourke ME, Rusch A, Poveda K, Jonsson M, Rosenheim JA, Schellhorn NA, Tscharntke T, Wratten SD, Zhang W, Iverson AL, Adler LS, Albrecht M, Alignier A, Angelella GM, Zubair Anjum M, Avelino J, Batáry P, Baveco JM, Bianchi FJJA, Birkhofer K, Bohnenblust EW, Bommarco R, Brewer MJ, Caballero-López B, Carrière Y, Carvalheiro LG, Cayuela L, Centrella M, Ćetković A, Henri DC, Chabert A, Costamagna AC, De la Mora A, de Kraker J, Desneux N, Diehl E, Diekötter T, Dormann CF, Eckberg JO, Entling MH, Fiedler D, Franck P, Frank van Veen FJ, Frank T, Gagic V, Garratt MPD, Getachew A, Gonthier DJ, Goodell PB, Graziosi I, Groves RL, Gurr GM, Hajian-Forooshani Z, Heimpel GE, Herrmann JD, Huseth AS, Inclán DJ, Ingrao AJ, Iv P, Jacot K, Johnson GA, Jones L, Kaiser M, Kaser JM, Keasar T, Kim TN, Kishinevsky M, Landis DA, Lavandero B, Lavigne C, Le Ralec A, Lemessa D, Letourneau DK, Liere H, Lu Y, Lubin Y, Luttermoser T, Maas B, Mace K, Madeira F, Mader V, Cortesero AM, Marini L, Martinez E, Martinson HM, Menozzi P, Mitchell MGE, Miyashita T, Molina GAR, Molina-Montenegro MA, O'Neal ME, Opatovsky I, Ortiz-Martinez S, Nash M, Östman Ö, Ouin A, Pak D, Paredes D, Parsa S, Parry H, Perez-Alvarez R, Perović DJ, Peterson JA, Petit S, Philpott SM, Plantegenest M, Plećaš M, Pluess T, Pons X, Potts SG, Pywell RF, Ragsdale DW, Rand TA, Raymond L, Ricci B, Sargent C, Sarthou JP, Saulais J, Schäckermann J, Schmidt NP, Schneider G, Schüepp C, Sivakoff FS, Smith HG, Stack Whitney K, Stutz S, Szendrei Z, Takada MB, Taki H, Tamburini G, Thomson LJ, Tricault Y, Tsafack N, Tschumi M, Valantin-Morison M, Van Trinh M, van der Werf W, Vierling KT, Werling BP, Wickens JB, Wickens VJ, Woodcock BA, Wyckhuys K, Xiao H, Yasuda M, Yoshioka A, Zou Y.

Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):E7863-E7870. doi: 10.1073/pnas.1800042115. Epub 2018 Aug 2.

22.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

BMC Med Genet. 2018 Jul 18;19(1):118. doi: 10.1186/s12881-018-0625-6.

23.

Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease.

Schmidt ME, Buren C, Mackay JP, Cheung D, Dal Cengio L, Raymond LA, Hayden MR.

BMC Biol. 2018 Jun 27;16(1):58. doi: 10.1186/s12915-018-0526-3.

24.

Stable Isotope Dynamic Labeling of Secretomes (SIDLS) Identifies Authentic Secretory Proteins Released by Cancer and Stromal Cells.

Hammond DE, Kumar JD, Raymond L, Simpson DM, Beynon RJ, Dockray GJ, Varro A.

Mol Cell Proteomics. 2018 Sep;17(9):1837-1849. doi: 10.1074/mcp.TIR117.000516. Epub 2018 Jun 18.

25.

Laboratory testing in primary care: A systematic review of health IT impacts.

Maillet É, Paré G, Currie LM, Raymond L, Ortiz de Guinea A, Trudel MC, Marsan J.

Int J Med Inform. 2018 Aug;116:52-69. doi: 10.1016/j.ijmedinf.2018.05.009. Epub 2018 May 21.

PMID:
29887235
26.

Mercury's neurotoxicity is characterized by its disruption of selenium biochemistry.

Ralston NVC, Raymond LJ.

Biochim Biophys Acta Gen Subj. 2018 May 9. pii: S0304-4165(18)30141-7. doi: 10.1016/j.bbagen.2018.05.009. [Epub ahead of print] Review.

PMID:
29753115
27.

Dynamical photo-induced electronic properties of molecular junctions.

Beltako K, Michelini F, Cavassilas N, Raymond L.

J Chem Phys. 2018 Mar 14;148(10):104301. doi: 10.1063/1.5004778.

PMID:
29544300
28.

Improving performance in the ED through laboratory information exchange systems.

Raymond L, Paré G, Maillet É, Ortiz de Guinea A, Trudel MC, Marsan J.

Int J Emerg Med. 2018 Mar 12;11(1):15. doi: 10.1186/s12245-018-0179-6.

29.

HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction.

Kovalenko M, Milnerwood A, Giordano J, St Claire J, Guide JR, Stromberg M, Gillis T, Sapp E, DiFiglia M, MacDonald ME, Carroll JB, Lee JM, Tappan S, Raymond L, Wheeler VC.

J Huntingtons Dis. 2018;7(1):17-33. doi: 10.3233/JHD-170282.

30.

Cause or compensation?-Altered neuronal Ca2+ handling in Huntington's disease.

Mackay JP, Nassrallah WB, Raymond LA.

CNS Neurosci Ther. 2018 Apr;24(4):301-310. doi: 10.1111/cns.12817. Epub 2018 Feb 9. Review.

31.

Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC.

Groveman BR, Orrù CD, Hughson AG, Raymond LD, Zanusso G, Ghetti B, Campbell KJ, Safar J, Galasko D, Caughey B.

Acta Neuropathol Commun. 2018 Feb 9;6(1):7. doi: 10.1186/s40478-018-0508-2.

32.

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium.

Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.

33.

Endocannabinoid-Specific Impairment in Synaptic Plasticity in Striatum of Huntington's Disease Mouse Model.

Sepers MD, Smith-Dijak A, LeDue J, Kolodziejczyk K, Mackie K, Raymond LA.

J Neurosci. 2018 Jan 17;38(3):544-554. doi: 10.1523/JNEUROSCI.1739-17.2017. Epub 2017 Nov 30. Erratum in: J Neurosci. 2018 Aug 15;38(33):7364.

34.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM.

J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26.

35.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C.

Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11.

PMID:
29034544
36.

Air Pollution and Mortality in the Medicare Population.

Raymond LW.

N Engl J Med. 2017 Oct 12;377(15):1497-8. doi: 10.1056/NEJMc1709849. No abstract available.

PMID:
29022672
37.

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2.

38.

An Automated Home-Cage System to Assess Learning and Performance of a Skilled Motor Task in a Mouse Model of Huntington's Disease.

Woodard CL, Bolaños F, Boyd JD, Silasi G, Murphy TH, Raymond LA.

eNeuro. 2017 Sep 18;4(5). pii: ENEURO.0141-17.2017. doi: 10.1523/ENEURO.0141-17.2017. eCollection 2017 Sep-Oct.

39.

Role of the central lysine cluster and scrapie templating in the transmissibility of synthetic prion protein aggregates.

Groveman BR, Raymond GJ, Campbell KJ, Race B, Raymond LD, Hughson AG, Orrú CD, Kraus A, Phillips K, Caughey B.

PLoS Pathog. 2017 Sep 14;13(9):e1006623. doi: 10.1371/journal.ppat.1006623. eCollection 2017 Sep.

40.

RT-QuIC Assays for Prion Disease Detection and Diagnostics.

Orrù CD, Groveman BR, Hughson AG, Manca M, Raymond LD, Raymond GJ, Campbell KJ, Anson KJ, Kraus A, Caughey B.

Methods Mol Biol. 2017;1658:185-203. doi: 10.1007/978-1-4939-7244-9_14.

PMID:
28861791
41.

The Effect of Formulation, Dose, and Adjuvants on Uptake of Phosphite Into Pine Foliage.

Rolando CA, Gaskin RE, Gous SF, Horgan DB, Raymond LG.

Plant Dis. 2017 Sep;101(9):1652-1658. doi: 10.1094/PDIS-04-17-0553-RE. Epub 2017 Jul 7.

PMID:
30677337
42.

Amplified Detection of Prions and Other Amyloids by RT-QuIC in Diagnostics and the Evaluation of Therapeutics and Disinfectants.

Caughey B, Orru CD, Groveman BR, Hughson AG, Manca M, Raymond LD, Raymond GJ, Race B, Saijo E, Kraus A.

Prog Mol Biol Transl Sci. 2017;150:375-388. doi: 10.1016/bs.pmbts.2017.06.003. Epub 2017 Jul 27. Review.

PMID:
28838670
43.

PrP P102L and Nearby Lysine Mutations Promote Spontaneous In Vitro Formation of Transmissible Prions.

Kraus A, Raymond GJ, Race B, Campbell KJ, Hughson AG, Anson KJ, Raymond LD, Caughey B.

J Virol. 2017 Oct 13;91(21). pii: e01276-17. doi: 10.1128/JVI.01276-17. Print 2017 Nov 1.

44.

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G.

Eur J Hum Genet. 2017 Nov;25(11):1217-1228. doi: 10.1038/ejhg.2017.124. Epub 2017 Aug 23.

45.

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A.

Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Review.

PMID:
28694206
46.

Preliminary inter-rater reliability of the wheelchair components questionnaire for condition.

Rispin K, DiFrancesco J, Raymond LA, Riseling K, Wee J.

Disabil Rehabil Assist Technol. 2018 Aug;13(6):552-557. doi: 10.1080/17483107.2017.1346150. Epub 2017 Jul 7.

PMID:
28686490
47.

Reassessment of an Asthma Diagnosis.

Raymond LW.

JAMA. 2017 May 2;317(17):1801. doi: 10.1001/jama.2017.3498. No abstract available.

PMID:
28464135
48.

Characteristics and outcomes of Canadian MD/PhD program graduates: a cross-sectional survey.

Skinnider MA, Squair JW, Twa DDW, Ji JX, Kuzyk A, Wang X, Steadman PE, Zaslavsky K, Dey AK, Eisenberg MJ, Gagné ÈR, HayGlass KT, Lewis JF, Margetts PJ, Underhill DA, Rosenblum ND, Raymond LA.

CMAJ Open. 2017 Apr 25;5(2):E308-E314. doi: 10.9778/cmajo.20160152.

49.

Extended use of electronic health records by primary care physicians: Does the electronic health record artefact matter?

Raymond L, Paré G, Marchand M.

Health Informatics J. 2017 Apr 1:1460458217704244. doi: 10.1177/1460458217704244. [Epub ahead of print]

PMID:
28434279
50.

Ceiling effect in EMR system assimilation: a multiple case study in primary care family practices.

Trudel MC, Marsan J, Paré G, Raymond L, Ortiz de Guinea A, Maillet É, Micheneau T.

BMC Med Inform Decis Mak. 2017 Apr 20;17(1):46. doi: 10.1186/s12911-017-0445-1.

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