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Cancer Risks for PMS2-Associated Lynch Syndrome.
Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK. Ten Broeke SW, et al. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. J Clin Oncol. 2018. PMID: 30161022 Free PMC article.
Relapsed or Refractory Double-Expressor and Double-Hit Lymphomas Have Inferior Progression-Free Survival After Autologous Stem-Cell Transplantation.
Herrera AF, Mei M, Low L, Kim HT, Griffin GK, Song JY, Merryman RW, Bedell V, Pak C, Sun H, Paris T, Stiller T, Brown JR, Budde LE, Chan WC, Chen R, Davids MS, Freedman AS, Fisher DC, Jacobsen ED, Jacobson CA, LaCasce AS, Murata-Collins J, Nademanee AP, Palmer JM, Pihan GA, Pillai R, Popplewell L, Siddiqi T, Sohani AR, Zain J, Rosen ST, Kwak LW, Weinstock DM, Forman SJ, Weisenburger DD, Kim Y, Rodig SJ, Krishnan A, Armand P. Herrera AF, et al. J Clin Oncol. 2017 Jan;35(1):24-31. doi: 10.1200/JCO.2016.68.2740. Epub 2016 Oct 24. J Clin Oncol. 2017. PMID: 28034071 Free PMC article.
Prospective observational cohort study on grading the severity of postoperative complications in global surgery research.
International Surgical Outcomes Study (ISOS) group. International Surgical Outcomes Study (ISOS) group. Br J Surg. 2019 Jan;106(2):e73-e80. doi: 10.1002/bjs.11025. Br J Surg. 2019. PMID: 30620066
Data are presented as frequencies and ICC values (with 95 per cent c.i.). The analysis was stratified by income status of the country, comparing HICs with LMICs. ...Agreement between classification systems was poor overall (ICC 041, 95 per cent c.i. 020 to 055), and …
Data are presented as frequencies and ICC values (with 95 per cent c.i.). The analysis was stratified by income status of the country …
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting : Toronto, Canada. 14-17 April 2016.
Fotis L, Shaikh N, Baszis K, French A, Tarr P, Grevich S, Lee P, Ringold S, Leroux B, Leahey H, Yuasa M, Foster J, Sokolove J, Lahey L, Robinson W, Newsom J, Stevens A, Karasawa R, Tamaki M, Tanaka M, Sato T, Yudoh K, Jarvis JN, Moncrieffe H, Bennett MF, Tsoras M, Luyrink L, Xu H, Prahalad S, Morris P, Dare J, Nigrovic PA, Rosenkranz M, Becker M, O’Neil KM, Griffin T, Lovell DJ, Grom AA, Medvedovic M, Thompson SD, Zhu L, Jiang K, Wong L, Buck MJ, Chen Y, Moncrieffe H, Brungs L, Liu T, Wang T, Jarvis JN, Alsaeid K, Alfailakawi J, Alenezi H, Alsaeed H, Beukelman T, Natter M, Ilowite N, Mieszkalski K, Burrell G, Best B, Bristow H, Carr S, Dennos A, Kaufmann R, Kimura Y, Schanberg L, Blier PR, Boneparth A, Wenderfer SE, Moorthy LN, Radhakrishna SM, Sagcal-Gironella ACP, von Scheven E, Gedik KC, Siddique S, Aguiar CL, Erkan D, Cohen E, Lee Y, Dossett M, Mehta D, Davis R, Gilbert M, Goilav B, Meidan E, Hsu J, Boneparth A, Chua A, Ardoin S, Wenderfer SE, Von Scheven E, Ruth NM, Hui-Yuen J, Gedik KC, Bermudez L, Cook A, Imundo L, Starr A, Eichenfield A, Askanase A, Janow G, Schanberg LE, Setoguchi S, Hasselblad V, Mellins ED, Schneider R, Kimura Y; The CARRA Legacy Registry Investigators, Kimura Y, Grevich S, Beukelman T, Morgan E, Graham TB, Ibarra M, Ruas YS, Klein-Gitelman M, Onel K, Prahalad S, Punaro M, Ringold S, Toib D, Van Mater H, Weiss JE, Weiss PF, Mieszkalski K, Schanberg LE, Kwok TSH, Bisaillon J, Smith C, Brosseau L, Stinson J, Huber AM, Duffy CM, April KT, Lewandowski LB, Scott C, Li SC, Torok KS, Rabinovich CE, Hong SD, Becker ML, Dedeoglu F, Ibarra MF, Ferguson PJ, Fuhbrigge RC, Stewart KG, Pope E, Laxer RM, Mason TG, Higgins GC, Li X, Punaro MG, Tomlinson G, Pullenayegum E, Matelski J, Schanberg L, Feldman BM, Manthiram K, Correa H, Edwards K, Oberle EJ, Bayer M, Co DO, Baris HE, Chiu Y, Huber A, Kim S, Oberle EJ, Beukelman T, Orandi AB, Baszis KW, Dharnidharka V, Hoeltzel MF; for the CARRA JDM Committee, Reed A, Huber A, Tomlinson G, Pullenayegum E, Matelski J, Goh YI, Schanberg L, Feldman BM, Schnabel A, Range U, Hahn G, Siepmann T, Berner R, Hedrich CM, Stevens B, Torok KS, Li S, Hershey N, Curran M, Higgins G, Moore K, Rabinovich E, Stevens AM; for the CARRA Registry Investigators, Stinson J, Connelly M, Huber A, Luca N, Spiegel L, Tsimicalis A, Luca S, Tajuddin N, Berard R, Barsalou J, Campillo S, Dancey P, Duffy C, Feldman B, Johnson N, McGrath P, Shiff N, Tse S, Tucker L, Victor C, Stinson J, Lalloo C, Harris L, Cafazzo J, Spiegel L, Feldman B, Luca N, Laxer R, Bullock DR, Vehe RK, Zhang L, Correll CK, Ganguli S, Shenberger M, Korumilli R, Gottlieb B, Rodriguez M, de Ranieri D, Onel K, Wagner-Weiner L, Tesher M, Wojcicki ER, Maletta KL, Co DO, Malloy M, Thomson S, Olson JC, Wenderfer SE, Gilbert M, Hsu J, Sule S, Rubinstein TB, Goilav B, Okamura DM, Chua A, Greenbaum LA, Lane JC, von Scheven E, Ardoin SP, Ruth NM, Woo JMP, Malloy MM, Jegers JA, Hahn DJ, Hintermeyer MK, Martinetti SM, Heckel GR, Roth-Wojcicki EL, Co DO. Fotis L, et al. Pediatr Rheumatol Online J. 2016 Jul 12;14 Suppl 1(Suppl 1):41. doi: 10.1186/s12969-016-0098-0. Pediatr Rheumatol Online J. 2016. PMID: 27409414 Free PMC article.
Li, Kathryn S. Torok, C. Egla Rabinovich, Sandy D. Hong, Mara L Becker, Fatma Dedeoglu, Maria F. ...Maletta, Dominic O. Co, Marsha Malloy, Sarah Thomson, Judyann C. Olson P32 Proliferative lupus nephritis in juvenile SLE: Support from the pediatric nephrology commun …
Li, Kathryn S. Torok, C. Egla Rabinovich, Sandy D. Hong, Mara L Becker, Fatma Dedeoglu, Maria F. ...Maletta, Dominic O. Co, Marsha Ma …
Validity of an Automated Algorithm to Identify Cirrhosis Using Electronic Health Records in Patients with Primary Biliary Cholangitis.
Lu M, Bowlus CL, Lindor K, Rodriguez-Watson CV, Romanelli RJ, Haller IV, Anderson H, VanWormer JJ, Boscarino JA, Schmidt MA, Daida YG, Sahota A, Vincent J, Li J, Trudeau S, Rupp LB, Gordon SC; FOLD Investigators. Lu M, et al. Clin Epidemiol. 2020 Nov 10;12:1261-1267. doi: 10.2147/CLEP.S262558. eCollection 2020. Clin Epidemiol. 2020. PMID: 33204167 Free PMC article.
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE. Gardner JF, et al. Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145. Brain Sci. 2018. PMID: 30087272 Free PMC article.
We describe four unrelated patients with the same de novo missense mutation in TUBA1A, c.5G>A, p.(Arg2His), as found by next generation sequencing. Detailed comparison revealed similar brain phenotypes with mild variability. ...The results suggest the mutation subtly im …
We describe four unrelated patients with the same de novo missense mutation in TUBA1A, c.5G>A, p.(Arg2His), as found by next gener …
Diagnostic Utility of High Sensitivity Troponins for Echocardiographic Markers of Structural Heart Disease.
Wang TKM, Dugo C, Gillian Y, Yvonne W, Heather S, Kevin S, Peter C, Jonathan C, Andrew T, Nezar A, Scott T, Ross B, Patrick G. Wang TKM, et al. Med Sci (Basel). 2018 Feb 15;6(1):17. doi: 10.3390/medsci6010017. Med Sci (Basel). 2018. PMID: 29462878 Free PMC article.
Hs-troponins Singulex I, Abbott I and Roche T and N-terminal pro-brain natriuretic peptide (NT-proBNP) were evaluated in relation to SHD parameters including left ventricular hypertrophy (LVH(Echo)) and left atrial enlargement (LAE(Echo)) on echocardiography. 78 subjects who unde …
Hs-troponins Singulex I, Abbott I and Roche T and N-terminal pro-brain natriuretic peptide (NT-proBNP) were evaluated in relation to SHD par …
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