Bibliographies thématiques / Genetic screening

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Littérature scientifique sur le sujet « Genetic screening »

Auteur : Grafiati
Publié le 4 juin 2021
Mis à jour le 25 juillet 2025

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Articles de revues sur le sujet "Genetic screening"

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Elias, Sherman, and George J. Annas. "Generic Consent for Genetic Screening." New England Journal of Medicine 330, no. 22 (1994): 1611–13. http://dx.doi.org/10.1056/nejm199406023302213.

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Hasanova, Aytakin, and Lamiya Guliyeva. "GENETIC SCREENING." Likarska sprava, no. 1-2 (May 25, 2021): 40–44. http://dx.doi.org/10.31640/jvd.1-2.2021(6).

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Human, as a species, is very variable, and his variability is at the basis of his social organization. This variability is maintained, in part, by the chance effects of gene assortment and the variation in these genes is the result of mutations in the past. If our remote ancestors had not mutated we would not he here; further, since no species is likely to he able to reduce its mutation rate substantially by the sort of selection to which it is exposed, we may regard mutations of recent origin as part of the price of having evolved. We are here: all of us have some imperfections we would wish
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Burke, W., B. Tarini, N. A. Press, and J. P. Evans. "Genetic Screening." Epidemiologic Reviews 33, no. 1 (2011): 148–64. http://dx.doi.org/10.1093/epirev/mxr008.

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Clarke, Angus. "Genetic screening." Practice Nursing 7, no. 14 (1996): 32–34. http://dx.doi.org/10.12968/pnur.1996.7.14.9823.

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Williams, Janet K. "Genetic Screening." Journal of Obstetric, Gynecologic & Neonatal Nursing 14, no. 5 (1985): 350. http://dx.doi.org/10.1111/j.1552-6909.1985.tb02081.x.

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McCarrick, Pat Milmoe. "Genetic Testing and Genetic Screening." Kennedy Institute of Ethics Journal 3, no. 3 (1993): 333–54. http://dx.doi.org/10.1353/ken.0.0251.

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Sermon, Karen. "Preimplantation Genetic Screening." OBM Genetics 1, no. 4 (2017): 1. http://dx.doi.org/10.21926/obm.genet.1704008.

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Sermon, Karen. "Preimplantation Genetic Screening." OBM Genetics 1, no. 1 (2017): 1. http://dx.doi.org/10.21926/obm.genet.1704009.

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Mastenbroek, S., M. Twisk, F. van der Veen, and S. Repping. "Preimplantation genetic screening." Reproductive BioMedicine Online 17, no. 2 (2008): 293. http://dx.doi.org/10.1016/s1472-6483(10)60209-x.

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Harper, Joyce C. "Preimplantation genetic screening." Journal of Medical Screening 25, no. 1 (2017): 1–5. http://dx.doi.org/10.1177/0969141317691797.

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Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. Thi
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Thèses sur le sujet "Genetic screening"

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Blaauw, Sonja. "SNP screening and validation in Haliotis midae." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/19976.

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Thesis (MSc)--Stellenbosch University, 2012.<br>ENGLISH ABSTRACT: Haliotis midae (commonly referred to as perlemoen) is the only one of five endemic species in South Africa that is commercially valued both locally and internationally. Unfortunately, natural perlemoen populations have become a dwindling resource due to commercial exploitation, poaching and the influx of natural threats, such as the West Coast rock lobster, Jasus lalandii. To preserve the natural diversity and sustainability of natural populations as well as commercial stocks, genetic management and improvement of perlemoe
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Moye, William Andrew. "Cost-effectiveness Analysis of Preimplantation Genetic Screening." ScholarWorks, 2018. https://scholarworks.waldenu.edu/dissertations/4806.

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In vitro fertilization (IVF) is used to help infertile couples achieve a live birth. Clinical studies have suggested that multiple, consecutive cycles of IVF can increase live birth rate significantly. Others have documented improved live birth rates from the use of new laboratory techniques for preimplantation genetic screening (PGS). This genetic screening technique seeks to determine the ploidy of the embryo prior to implantation into the woman. To date, no study has examined the cost-effectiveness of using IVF in conjunction with PGS compared to that of IVF alone for 3 consecutive cycles i
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Hoek, Kim G. P. "Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR)." Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019.1/2834.

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Thesis (MSc (Genetics))--University of Stellenbosch, 2006.<br>Pre-eclampsia is a multisystemic disorder with an incidence of ~6-8% in non-Caucasian women in the Western Cape. Trophoblast invasion is vital for adequate anchorage of the placenta to the uterine wall as well as for the optimisation of utero-placental blood flow in uncomplicated pregnancies. This process is facilitated by the fetal trophoblast cells that digest the extracellular matrix of the uterus by secreting various molecules, including the metalloproteinases (MMP), of which MMP-9 has an increased production during the first tr
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Evans, Mark Francis. "Molecular genetic analysis of cervical dysplasia." Thesis, University of Hertfordshire, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338560.

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Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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Melley, Caitlin. "Surgical fetal intervention assessing the current practices of genetic counselors /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23321.

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Duncan, Rony Emily. "Holding your breath : predictive genetic testing in young people /." Connect to thesis, 2005. http://eprints.unimelb.edu.au/archive/00001621.

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Dubé, Nicholas Larsen Andrew. "Enhanced genetic screening plan for the B.C. molecular genetics laboratory : a five year business plan /." Burnaby B.C. : Simon Fraser University, 2007. http://ir.lib.sfu.ca/handle/1892/9369.

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Research Project (M.B.A.) - Simon Fraser University, 2007.<br>Theses (Faculty of Business Administration) / Simon Fraser University. Senior supervisor: Dr. Aidan Vining -- Faculty of Business Administration. MBA-MOT Program. Also issued in digital format and available on the World Wide Web.
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Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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Calore, Chiara. "Genotype-phenotype correlations and genetic family screening in hypertrophic cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3421680.

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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Clinical presentation is heterogeneous, outcome ranging from benign asymptomatic forms to more malignant expressions resulting in sudden or heart failure death. To date, more than 450 mutations have been reported in genes encoding sarcomeric proteins, proteins of the Z-disc, intercalated discs and in genes involved in cardiac metabolism. DNA testing is helpful for confirming diagnosis in ambiguous situations, can give some prognostic information and represents the gold standard for preclinical diagnosis in family
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Livres sur le sujet "Genetic screening"

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Fischer, Michael W., and Markus Hengstschläger. Genetic screening. Peter Lang, 2009.

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Gregg, Anthony R., and Joe Leigh Simpson. Genetic screening and counseling. Saunders, 2010.

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Bioethics, Nuffield Council on, ed. Genetic screening: Ethical issues. Nuffield Council on Bioethics, 1993.

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Chadwick, Ruth, Darren Shickle, Henk Ten Have, and Urban Wiesing, eds. The Ethics of Genetic Screening. Springer Netherlands, 1999. http://dx.doi.org/10.1007/978-94-015-9323-6.

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Bird, R. Curtis, and Bruce F. Smith, eds. Genetic Library Construction and Screening. Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/978-3-642-56408-6.

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F, Chadwick Ruth, ed. The ethics of genetic screening. Kluwer Academic Publishers, 1999.

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Juth, Niklas. Genetic information values and rights: The morality of presymptomatic genetic testing. Acta Universitatis Gothoburgensis, 2005.

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Sommer, Annemarie. Birth defects and genetic screening and counseling. Veterans Administration Central Office, Dept. of Medicine and Surgery, Agent Orange Projects Office, 1985.

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Sommer, Annemarie. Birth defects and genetic screening and counseling. Veterans Administration Central Office, Dept. of Medicine and Surgery, Agent Orange Projects Office, 1985.

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Léon, Cassiers, and Vermeersch Etienne 1934-, eds. Erfelijkheid: Genetische tests en maatschappij. Garant, 2000.

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Chapitres de livres sur le sujet "Genetic screening"

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Burke, Katherine, and Angus Clarke. "Genetic Screening." In Encyclopedia of Global Bioethics. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-05544-2_212-1.

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Petrinovich, Lewis. "Genetic Screening." In Living and Dying Well. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-0206-1_2.

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Burke, Katherine, and Angus Clarke. "Genetic Screening." In Encyclopedia of Global Bioethics. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-09483-0_212.

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ten Have, Henk, and Maria do Céu Patrão Neves. "Genetic Screening." In Dictionary of Global Bioethics. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-54161-3_276.

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Rupar, C. Anthony, Lynn Holt, and Bruce R. Korf. "Carrier Screening." In Genetic Testing. John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/0471748897.ch10.

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Péter, Kakuk. "Prenatal Genetic Screening." In Encyclopedia of Global Bioethics. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-09483-0_346.

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Péter, Kakuk. "Prenatal Genetic Screening." In Encyclopedia of Global Bioethics. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-05544-2_346-1.

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Repping, Sjoerd, Sebastiaan Mastenbroek, and Paul N. Scriven. "Preimplantation Genetic Screening." In Preimplantation Genetic Diagnosis in Clinical Practice. Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-2948-6_16.

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ten Have, Henk, and Maria do Céu Patrão Neves. "Prenatal Genetic Screening." In Dictionary of Global Bioethics. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-54161-3_416.

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MacRae, Andrew R., David Chitayat, Roxanne Mykitiuk, Mireille Lacroix, and Stephanie Turnham. "Prenatal and Neonatal Screening." In Genetic Testing. John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/0471748897.ch8.

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Actes de conférences sur le sujet "Genetic screening"

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Zamfirov, Milen, Lyudmila Belenska-Todorova, Tihomir Todorov, et al. "APPLICATION OF GENETIC SCREENING IN PATIENTS WITH AUTISM USING EXOME AND CHROMOSOME SEQUENCING IN DEVELOPING EDUCATIONAL APPROACHES." In 17th annual International Conference of Education, Research and Innovation. IATED, 2024. https://doi.org/10.21125/iceri.2024.2582.

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Hasanova, Aytakin. "PREDICTIVE GENETIC SCREENING." In The First International Scientific-Practical Conference- “Modern Tendencies of Dialogue in Multidenominational Society: philosophical, religious, legal view”. IRETC MTÜ, 2020. http://dx.doi.org/10.36962/mtdms202029.

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Human, as a species, is very variable, and his variability is at the basis of his social organization. This variability is maintained, in part, by the chance effects of gene assortment and the variation in these genes is the result of mutations in the past. If our remote ancestors had not mutated we would not he here; further, since no species is likely to he able to reduce its mutation rate substantially by the sort of selection to which it is exposed, we may regard mutations of recent origin as part of the price of having evolved. We are here: all of us have some imperfections we would wish
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Wilczewski, Jeffrey M., and Ferat Sahin. "A hybrid genetic scatter search algorithm using genetic screening." In 2009 Fifth International Conference on Soft Computing, Computing with Words and Perceptions in System Analysis, Decision and Control (ICSCCW). IEEE, 2009. http://dx.doi.org/10.1109/icsccw.2009.5379437.

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Koinuma, Nobuo, and Michiya Ito. "Abstract B37: Genetic screening of HNPCC." In Abstracts: AACR International Conference on Frontiers in Cancer Prevention Research‐‐ Dec 6–9, 2009; Houston, TX. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1940-6207.prev-09-b37.

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Boughetane, Lina, Tiong Yeng Lim, Sushma Saksena, and Frederick Chen. "P18 Cascade screening of genetic haemochromatosis patients." In BSG LIVE’23, 19–22 June, ACC Liverpool. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2023. http://dx.doi.org/10.1136/gutjnl-2023-bsg.92.

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Zaborski, Mateusz, and Jacek Mańdziuk. "Improving LSHADE by means of a pre-screening mechanism." In GECCO '22: Genetic and Evolutionary Computation Conference. ACM, 2022. http://dx.doi.org/10.1145/3512290.3528805.

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Burks, Armand R., and William F. Punch. "Genetic programming for tuberculosis screening from raw X-ray images." In GECCO '18: Genetic and Evolutionary Computation Conference. ACM, 2018. http://dx.doi.org/10.1145/3205455.3205461.

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Gomes, Victor Hugo de Souza Silva, Klesia Adaynny Rodrigues, Isadora Soares Constantini de Andrade, et al. "Use of free genetic screening methods in neurology outpatients in cuiaba: advantages and interpretation difficulties." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.368.

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Introduction: Medical genetics is increasingly gaining in modern medicine, through panels that enable the screening and diagnosis of rare diseases, becoming an effective ally in determination of some pathologies. In 2021, Invitae provided of medical outpatient clinics with kits for collecting genetic material in order to assist the specialist in diagnosing unusual and difficult-to-recognize conditions. In Cuiabá, the residency in Neurology was chosen to host the use of these methods. Objectives and methods: List the genetic tests collected through oral swabs and quantify the diagnoses made, in
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Dunmore, Benjamin, Stephen Burr, Paul Upton, James Nathan, and Nicholas Morrell. "Haploid genetic screening identifies a novel regulator of BMPR2." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.4462.

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Rohlin, Anna, Frida Eiengård, Emma Mårtensson, Theofanis Zagoras, Samuel Gebre-Medhin, and Margareta Nordling. "Abstract 3473: Comprehensive genetic screening in hereditary colorectal cancer." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-3473.

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Rapports d'organisations sur le sujet "Genetic screening"

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Hutchison, Geoffrey. Genetic Algorithms for Rapid Molecular Materials Screening. Office of Scientific and Technical Information (OSTI), 2023. http://dx.doi.org/10.2172/2246918.

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Doukas, David J. Assessing Patient Values Towards Prostate Cancer Genetic Screening. Defense Technical Information Center, 1999. http://dx.doi.org/10.21236/ada378059.

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Duan, Roxanne. Genetic Screening of Cells with Enhanced Antibody Production. Defense Technical Information Center, 2007. http://dx.doi.org/10.21236/ada482297.

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Xu, Tian, and Betty Diamond. A Forward Genetic Screening for Prostate Cancer Progression Genes. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada567776.

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Duster, T. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report. Office of Scientific and Technical Information (OSTI), 1998. http://dx.doi.org/10.2172/666241.

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Ross, Mitchell G., Richard W. Webster, Hannah Reed, et al. Improved Screening Method for Genetic Resistance to White Mold (Sclerotinia stem rot) in Soybean. Crop Protection Network, 2021. http://dx.doi.org/10.31274/cpn-20210318-1.

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Corkum, Eleanor, Tiffanie Perrault, and Erin C. Strumpf. Improving Breast Cancer Diagnosis Pathways in Quebec. CIRANO, 2023. http://dx.doi.org/10.54932/qsho2261.

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Delays in breast cancer diagnosis can worsen the severity of illness and reinforce inequalities. This report analyzes Quebec’s capabilities and performance along the diagnosis pathway, gathering information from the scientific literature on cancer care, government reports, and expert interviews. The first section outlines which types of breast cancer data Quebec collects, and how data availability impacts the measurement of performance indicators. The second section discusses how socio-economic factors and unclear guidelines for patients outside Quebec’s organized screening program create barr
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Trottier, R. W., F. C. Hodgin, M. Imara, et al. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report. Office of Scientific and Technical Information (OSTI), 1993. http://dx.doi.org/10.2172/10134803.

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Chamovitz, Daniel A., and Zhenbiao Yang. Chemical Genetics of the COP9 Signalosome: Identification of Novel Regulators of Plant Development. United States Department of Agriculture, 2011. http://dx.doi.org/10.32747/2011.7699844.bard.

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This was an exploratory one-year study to identify chemical regulators of the COP9 signalosome. Chemical Genetics uses small molecules to modify or disrupt the function of specific genes/proteins. This is in contrast to classical genetics, in which mutations disrupt the function of genes. The underlying concept is that the functions of most proteins can be altered by the binding of a chemical, which can be found by screening large libraries for compounds that specifically affect a biological, molecular or biochemical process. In addition to screens for chemicals which inhibit specific biologic
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Wu, Ling, Tao Zhang, Yao Wang, et al. Polymorphisms and premature ovarian insufficiency and failure: A comprehensive meta-analysis update, subgroup, ranking, and network analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.1.0052.

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Review question / Objective: Early identification of women potentially who develop POI and POF is essential for early screening and treatment to improve clinical outcomes. We aim to conduct a comprehensive meta-analysis update, subgroup, ranking and network analysis for all available genetic polymorphism and associated with the POI and POF risk. Information sources: Six electronic databases will be included such as PubMed, Web of Science, Embase, MEDLINE, WANFANG DATA, CNKI. Will contact with authors by emails when necessary.
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