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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1951 2
1952 1
1955 1
1956 1
1958 1
1961 1
1963 1
1965 1
1967 4
1969 1
1970 2
1971 2
1972 5
1973 4
1974 7
1975 40
1976 46
1977 39
1978 39
1979 46
1980 44
1981 62
1982 66
1983 94
1984 107
1985 125
1986 128
1987 149
1988 178
1989 179
1990 223
1991 297
1992 304
1993 350
1994 373
1995 445
1996 522
1997 491
1998 589
1999 642
2000 668
2001 744
2002 703
2003 816
2004 850
2005 903
2006 987
2007 1073
2008 1079
2009 1249
2010 1314
2011 1471
2012 1620
2013 1731
2014 2076
2015 2130
2016 2247
2017 2424
2018 2586
2019 2752
2020 3011
2021 3271
2022 3055
2023 2790
2024 1179

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42,514 results

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Quoted phrase not found in phrase index: "Disorder by Site"
Page 1
MutationTaster2021.
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D. Steinhaus R, et al. Nucleic Acids Res. 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. Nucleic Acids Res. 2021. PMID: 33893808 Free PMC article.
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction model and attains higher accuracy than its predecessor, especially for rare benign variants. In addition, we have integrated many sources …
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction …
4D Flow cardiovascular magnetic resonance consensus statement: 2023 update.
Bissell MM, Raimondi F, Ait Ali L, Allen BD, Barker AJ, Bolger A, Burris N, Carhäll CJ, Collins JD, Ebbers T, Francois CJ, Frydrychowicz A, Garg P, Geiger J, Ha H, Hennemuth A, Hope MD, Hsiao A, Johnson K, Kozerke S, Ma LE, Markl M, Martins D, Messina M, Oechtering TH, van Ooij P, Rigsby C, Rodriguez-Palomares J, Roest AAW, Roldán-Alzate A, Schnell S, Sotelo J, Stuber M, Syed AB, Töger J, van der Geest R, Westenberg J, Zhong L, Zhong Y, Wieben O, Dyverfeldt P. Bissell MM, et al. J Cardiovasc Magn Reson. 2023 Jul 20;25(1):40. doi: 10.1186/s12968-023-00942-z. J Cardiovasc Magn Reson. 2023. PMID: 37474977 Free PMC article. Review.
Hemodynamic assessment is an integral part of the diagnosis and management of cardiovascular disease. Four-dimensional cardiovascular magnetic resonance flow imaging (4D Flow CMR) allows comprehensive and accurate assessment of flow in a single acquisition. ...
Hemodynamic assessment is an integral part of the diagnosis and management of cardiovascular disease. Four-dimensional cardiovascular …
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS. Venkataramany AS, et al. Ann Oncol. 2022 Jun;33(6):578-592. doi: 10.1016/j.annonc.2022.03.011. Epub 2022 Mar 23. Ann Oncol. 2022. PMID: 35339647 Free article. Review.
RESULTS: Published dysregulated splicing events can be categorized as exon inclusion, exon exclusion, splicing factor up-regulation, or splice site alterations. We observe these phenomena in cancer predisposition syndromes (Lynch syndrome, Li-Fraumeni syndrome, CHEK …
RESULTS: Published dysregulated splicing events can be categorized as exon inclusion, exon exclusion, splicing factor up-regulation, or spli …
Endothelial function in cardiovascular medicine: a consensus paper of the European Society of Cardiology Working Groups on Atherosclerosis and Vascular Biology, Aorta and Peripheral Vascular Diseases, Coronary Pathophysiology and Microcirculation, and Thrombosis.
Alexander Y, Osto E, Schmidt-Trucksäss A, Shechter M, Trifunovic D, Duncker DJ, Aboyans V, Bäck M, Badimon L, Cosentino F, De Carlo M, Dorobantu M, Harrison DG, Guzik TJ, Hoefer I, Morris PD, Norata GD, Suades R, Taddei S, Vilahur G, Waltenberger J, Weber C, Wilkinson F, Bochaton-Piallat ML, Evans PC. Alexander Y, et al. Cardiovasc Res. 2021 Jan 1;117(1):29-42. doi: 10.1093/cvr/cvaa085. Cardiovasc Res. 2021. PMID: 32282914 Free PMC article. Review.
In this European Society for Cardiology Position Paper, we describe endothelial dysfunction as a spectrum of phenotypic states and advocate further studies to determine the role of EC subtypes in cardiovascular disease. We conclude that there is no single ideal method for …
In this European Society for Cardiology Position Paper, we describe endothelial dysfunction as a spectrum of phenotypic states and advocate …
Richter syndrome.
Rossi D, Gaidano G. Rossi D, et al. Adv Exp Med Biol. 2013;792:173-91. doi: 10.1007/978-1-4614-8051-8_8. Adv Exp Med Biol. 2013. PMID: 24014297 Review.
In the presence of clinical features suspicious of RS, diagnosis of transformation and choice of the site of biopsy may take advantage of (18)FDG PET/CT. The prognosis of RS transformation is generally highly unfavorable. However, the pattern of survival is not homogeneous …
In the presence of clinical features suspicious of RS, diagnosis of transformation and choice of the site of biopsy may take advantag …
Central Endoscopy Reading in Inflammatory Bowel Diseases.
Panés J, Feagan BG, Hussain F, Levesque BG, Travis SP. Panés J, et al. J Crohns Colitis. 2016 Sep;10 Suppl 2:S542-7. doi: 10.1093/ecco-jcc/jjv171. J Crohns Colitis. 2016. PMID: 27604978 Review.
Endoscopic assessment of the presence and severity of endoscopic lesions has become an essential part of clinical trials in ulcerative colitis and Crohn's disease, for both patient eligibility and outcome measures. Variability in lesion interpretation between and within …
Endoscopic assessment of the presence and severity of endoscopic lesions has become an essential part of clinical trials in ulcerative colit …
RNA splicing analysis in genomic medicine.
Wai H, Douglas AGL, Baralle D. Wai H, et al. Int J Biochem Cell Biol. 2019 Mar;108:61-71. doi: 10.1016/j.biocel.2018.12.009. Epub 2018 Dec 27. Int J Biochem Cell Biol. 2019. PMID: 30594648 Review.
The regulation of splicing is highly complex and as a result, in silico prediction tools lack sufficient sensitivity and specificity for reliable use. ...By utilising data science approaches and machine learning, it may prove possible to finally understand and interpret th …
The regulation of splicing is highly complex and as a result, in silico prediction tools lack sufficient sensitivity and specificity …
Diagnostic Code-Based Screening for Identifying Children with Primary Hyperoxaluria.
Tasian G, Dickinson K, Karafilidis J, Marchesani N, Antunes N, Razzaghi H, Utidjian L, Yonekawa K, Coplen D, Muneeruddin S, DeFoor B, Rove KO, Forrest C, Ching C. Tasian G, et al. J Urol. 2022 Oct;208(4):898-905. doi: 10.1097/JU.0000000000002863. Epub 2022 Aug 5. J Urol. 2022. PMID: 35930731 Review.
The PPV of the codes was compared across tiers, time, PH type, and site. RESULTS: We identified 341 patients in the screen; 33 had confirmed PH (9.7%). ...The degree to which an institution accurately represented point of care diagnoses in the data extraction process was …
The PPV of the codes was compared across tiers, time, PH type, and site. RESULTS: We identified 341 patients in the screen; 33 had co …
Development and validation of a prediction model for opioid use disorder among youth.
Wagner NM, Binswanger IA, Shetterly SM, Rinehart DJ, Wain KF, Hopfer C, Glanz JM. Wagner NM, et al. Drug Alcohol Depend. 2021 Oct 1;227:108980. doi: 10.1016/j.drugalcdep.2021.108980. Epub 2021 Aug 28. Drug Alcohol Depend. 2021. PMID: 34482048 Free PMC article.
This study developed and validated a prediction model of OUD in youth aged 14-18 years. METHODS: The model was developed in a Colorado healthcare system (derivation site) using Cox proportional hazards regression analysis. Model predictors and outcomes were i …
This study developed and validated a prediction model of OUD in youth aged 14-18 years. METHODS: The model was developed in a Colorad …
Risk stratification in extramammary Paget disease.
Cohen JM, Granter SR, Werchniak AE. Cohen JM, et al. Clin Exp Dermatol. 2015 Jul;40(5):473-8. doi: 10.1111/ced.12690. Epub 2015 May 26. Clin Exp Dermatol. 2015. PMID: 26011765 Review.
Extramammary Paget disease (EMPD) is an uncommon intraepithelial adenocarcinoma that involves body sites with apocrine glands such as the genital, perineal and perianal regions. ...There is an emerging understanding of the importance of tumour genetics in risk stratificati …
Extramammary Paget disease (EMPD) is an uncommon intraepithelial adenocarcinoma that involves body sites with apocrine glands such as …
42,514 results
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