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

Year Number of Results
1977 2
1984 3
1986 1
1987 3
1988 4
1989 5
1990 4
1991 7
1992 6
1993 10
1994 15
1995 16
1996 26
1997 22
1998 39
1999 37
2000 65
2001 64
2002 82
2003 73
2004 76
2005 105
2006 111
2007 105
2008 122
2009 134
2010 147
2011 155
2012 182
2013 236
2014 240
2015 259
2016 294
2017 303
2018 349
2019 329
2020 395
2021 451
2022 501
2023 478
2024 207

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5,016 results

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Page 1
The Clinical Spectrum of PTEN Mutations.
Yehia L, Keel E, Eng C. Yehia L, et al. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. Annu Rev Med. 2020. PMID: 31433956 Review.
Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germline PTEN mutations. ...Timely diagnosis and understanding the natural history of PHTS are vital because early recognition enabl …
Cowden syndrome, a hereditary cancer predisposition and overgrowth disorder, was the first Mendelian condition associated with germli …
The genetics and screening of familial hypercholesterolaemia.
Henderson R, O'Kane M, McGilligan V, Watterson S. Henderson R, et al. J Biomed Sci. 2016 Apr 16;23:39. doi: 10.1186/s12929-016-0256-1. J Biomed Sci. 2016. PMID: 27084339 Free PMC article. Review.
Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Diagnosis to Prevent Early Death (MEDPED) criteria, each of which requires a different set of patient data. ...Alternatively, unive …
Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Di …
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Guzauskas GF, Garbett S, Zhou Z, Schildcrout JS, Graves JA, Williams MS, Hao J, Jones LK, Spencer SJ, Jiang S, Veenstra DL, Peterson JF. Guzauskas GF, et al. Ann Intern Med. 2023 May;176(5):585-595. doi: 10.7326/M22-0846. Epub 2023 May 9. Ann Intern Med. 2023. PMID: 37155986
OBJECTIVE: To estimate the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH). ...PERSPECTIVE: U.S. health care payer. INTERVENTION: Population ge …
OBJECTIVE: To estimate the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovaria …
Molecular Alterations in Gastric Preneoplastic Lesions and Early Gastric Cancer.
Battista S, Ambrosio MR, Limarzi F, Gallo G, Saragoni L. Battista S, et al. Int J Mol Sci. 2021 Jun 22;22(13):6652. doi: 10.3390/ijms22136652. Int J Mol Sci. 2021. PMID: 34206291 Free PMC article. Review.
Prognosis of gastric cancer is dramatically improved by early diagnosis. Correa's cascade correlates the expression of some molecular markers with the progression of preneoplastic lesions toward carcinoma. This article reviews the diagnostic and progno …
Prognosis of gastric cancer is dramatically improved by early diagnosis. Correa's cascade correlates the express …
Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis.
Xu WW, Liao L, Dai W, Zheng CC, Tan XP, He Y, Zhang QH, Huang ZH, Chen WY, Qin YR, Chen KS, He ML, Law S, Lung ML, He QY, Li B. Xu WW, et al. EBioMedicine. 2023 Jun;92:104587. doi: 10.1016/j.ebiom.2023.104587. Epub 2023 May 5. EBioMedicine. 2023. PMID: 37149929 Free PMC article.
There is urgent need to develop useful therapies for this lethal disease. METHODS: A genome-wide CRISPR/Cas9 screening, in combination with gene profiling of highly invasive and metastatic ESCC sublines, as well as PDX models, was performed to identify key regulators of …
There is urgent need to develop useful therapies for this lethal disease. METHODS: A genome-wide CRISPR/Cas9 screening, in combinatio …
Screening and identification of key biomarkers in hepatocellular carcinoma: Evidence from bioinformatic analysis.
Li L, Lei Q, Zhang S, Kong L, Qin B. Li L, et al. Oncol Rep. 2017 Nov;38(5):2607-2618. doi: 10.3892/or.2017.5946. Epub 2017 Sep 7. Oncol Rep. 2017. PMID: 28901457 Free PMC article.
The enriched functions and pathways of the DEGs include protein activation cascade, complement activation, carbohydrate binding, complement and coagulation cascades, mitotic cell cycle and oocyte meiosis. ...In conclusion, DEGs and hub genes identified in the presen …
The enriched functions and pathways of the DEGs include protein activation cascade, complement activation, carbohydrate binding, comp …
Beyond cascade screening: detection of familial hypercholesterolaemia at childhood immunization and other strategies.
Martin AC, Bell DA, Brett T, Watts GF. Martin AC, et al. Curr Opin Lipidol. 2017 Aug;28(4):321-327. doi: 10.1097/MOL.0000000000000423. Curr Opin Lipidol. 2017. PMID: 28426524 Review.
Although effective treatments are available, the majority of individuals remain undiagnosed. We review new evidence for improving the detection of familial hypercholesterolaemia. RECENT FINDINGS: Recent studies have demonstrated that universal screening of children …
Although effective treatments are available, the majority of individuals remain undiagnosed. We review new evidence for improving the det …
Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.
Wald DS, Wald NJ. Wald DS, et al. J Med Screen. 2019 Jun;26(2):71-75. doi: 10.1177/0969141318796856. Epub 2018 Oct 14. J Med Screen. 2019. PMID: 30319009 Free PMC article.
OBJECTIVE: To integrate child-parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hyperc …
OBJECTIVE: To integrate child-parent screening and cascade testing into a single pathway-child-parent cascade screen …
CASCADE screening and registry of familial hypercholesterolemia in Iran: Rationale and design.
Vaseghi G, Arabi S, Haghjooy-Javanmard S, Sabri M, Sadeghi M, Khosravi A, Zarfeshani S, Sarrafzadegan N. Vaseghi G, et al. ARYA Atheroscler. 2019 Mar;15(2):53-58. doi: 10.22122/arya.v15i2.1899. ARYA Atheroscler. 2019. PMID: 31440286 Free PMC article.
The clinical diagnostic criteria for FH consist of increased plasma low-density lipoprotein cholesterol (LDL-C), clinical features and family history of CAD. However, deoxyribonucleic acid (DNA)-based detection of FH mutation has high diagnostic values. As there was no …
The clinical diagnostic criteria for FH consist of increased plasma low-density lipoprotein cholesterol (LDL-C), clinical features and famil …
Cascade screening and treatment of children with familial hypercholesterolemia in Turkey.
Kose E, Kose M, Ozturk SI, Ozcan E, Onay H, Ozkan B. Kose E, et al. J Pediatr Endocrinol Metab. 2020 Aug 24;33(10):1251-1256. doi: 10.1515/jpem-2020-0234. J Pediatr Endocrinol Metab. 2020. PMID: 32829317 Free article.
Changes in lipid profile with dietary interventions and statin treatments were assessed. The results of cascade screening were analyzed. Results Fifty-one patients diagnosed with FH were enrolled in the study. ...Mean LDL-C level decreased from 204.1 19.1 mg/dL to 1 …
Changes in lipid profile with dietary interventions and statin treatments were assessed. The results of cascade screening were …
5,016 results