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Articles de revues sur le sujet « Genetic screening »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 25 juillet 2025

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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Lalwani, Sasmira, Jeannine Witmyer, Nancy Gaba, and David Frankfurter. "Preimplantation Genetic Screening." Postgraduate Obstetrics & Gynecology 35, no. 17 (2015): 1–5. http://dx.doi.org/10.1097/01.pgo.0000471712.79930.33.

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12

Burgin, Karen B. "Prenatal Genetic Screening." Journal of Midwifery & Women's Health 53, no. 4 (2008): 391–92. http://dx.doi.org/10.1016/j.jmwh.2008.02.002.

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13

Kenner, Carole, and Stephanie Amlung. "Newborn Genetic Screening: Blessing or Curse?" Neonatal Network 18, no. 7 (1999): 11–19. http://dx.doi.org/10.1891/0730-0832.18.7.11.

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Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerat

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14

Moore, Aideen M., and Julie Richer. "Genetic testing and screening in children." Paediatrics & Child Health 27, no. 4 (2022): 243–47. http://dx.doi.org/10.1093/pch/pxac028.

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Abstract Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility testing, and genetic testing in a research context.

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15

Lorey, Fred. "Human Genetics Data Applied to Genetic Screening Programs." Practicing Anthropology 20, no. 2 (1998): 30–33. http://dx.doi.org/10.17730/praa.20.2.n84728r821185380.

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The uses of human genetic data in genetic screening are multifaceted and dynamic, creating an ongoing stream of useful prevalence data, ethnicity data, and natural history information. Since the primary facility for generation of these data is a large public health genetic screening program, however, the results must be continually analyzed and evaluated in the context of testing parameters. For example, presumptive positive rates (initial screening test positives, only a portion of which will become diagnosed cases), false positive rates, detection rates, and analytical values must be constan

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16

Ross, Lainie Friedman. "Predictive Genetic Testing of Children and the Role of the Best Interest Standard." Journal of Law, Medicine & Ethics 41, no. 4 (2013): 899–906. http://dx.doi.org/10.1111/jlme.12099.

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The genetic testing and screening of children has been fraught with controversy since Robert Guthrie developed the bacterial inhibition assay to test for phenylketonuria and advocated for rapid uptake of universal newborn screening in the early 1960s. Today with fast and affordable mass screening of the whole genome on the horizon, the debate about when and in what scenarios children should undergo genetic testing and screening has gained renewed attention. United States (US) professional guidelines — both the American College of Medical Genetics (ACMG)/American Society of Human Genetics (ASHG

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17

Mackey, David Anthony, Deus Bigirimana, and Sandra Elfride Staffieri. "Integrating Genetics in Glaucoma Screening." Journal of Glaucoma 33, Suppl 1 (2024): S49—S53. http://dx.doi.org/10.1097/ijg.0000000000002425.

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Précis: As additional glaucoma genes are identified and classified, polygenic risk scores will be refined, facilitating early diagnosis and treatment. Ensuring genetic research is equitable to prevent glaucoma blindness worldwide is crucial. Purpose: To review the progress in glaucoma genetics over the past 25 years, including the identification of genes with varying contributions to the disease and the development of polygenic risk scores. Methods/Results: Over the last 2 and a half decades, glaucoma genetics has evolved from identifying genes with Mendelian inheritance patterns, such as myoc

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18

Victor Maafo, E. "Research Note: Genetic Engineering and Genetic Screening." Competitiveness Review 11, no. 1 (2001): 83–84. http://dx.doi.org/10.1108/eb046421.

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19

Sullivan-Pyke, Chantae, and Anuja Dokras. "Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis." Obstetrics and Gynecology Clinics of North America 45, no. 1 (2018): 113–25. http://dx.doi.org/10.1016/j.ogc.2017.10.009.

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20

Nolan, Kathleen. "First Fruits: Genetic Screening." Hastings Center Report 22, no. 4 (1992): S2. http://dx.doi.org/10.2307/3563030.

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21

Holden, Constance. "Employers Shun Genetic Screening." Science 250, no. 4982 (1990): 752. http://dx.doi.org/10.1126/science.250.4982.752.b.

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22

Traeger-Synodinos, Johanne, and François Rousseau. "Introduction to Genetic Screening." OBM Genetics 3, no. 3 (2019): 1. http://dx.doi.org/10.21926/obm.genet.1903094.

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23

Javaher, P., E. Nyoungui, H. Kääriäinen, et al. "Genetic Screening in Europe." Public Health Genomics 13, no. 7-8 (2010): 524–37. http://dx.doi.org/10.1159/000294998.

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24

Carlsson, Christina, Mats Jonsson, Bengt Nordén, et al. "Screening for genetic mutations." Nature 380, no. 6571 (1996): 207. http://dx.doi.org/10.1038/380207a0.

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25

Mills, Catherine. "GENETIC SCREENING AND SELFHOOD." Australian Feminist Studies 23, no. 55 (2008): 43–55. http://dx.doi.org/10.1080/08164640701816207.

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26

Grody, Wayne W. "Molecular Genetic Risk Screening." Annual Review of Medicine 54, no. 1 (2003): 473–90. http://dx.doi.org/10.1146/annurev.med.54.101601.152127.

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27

Lea, Dale Halsey, and Janet K. Williams. "Genetic Testing and Screening." AJN, American Journal of Nursing 102, no. 7 (2002): 36–43. http://dx.doi.org/10.1097/00000446-200207000-00035.

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28

Motulsky, Arno G. "Screening for Genetic Diseases." New England Journal of Medicine 336, no. 18 (1997): 1314–16. http://dx.doi.org/10.1056/nejm199705013361810.

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29

Caskey, C. Thomas, Manuel L. Gonzalez-Garay, Stacey Pereira, and Amy L. McGuire. "Adult Genetic Risk Screening." Annual Review of Medicine 65, no. 1 (2014): 1–17. http://dx.doi.org/10.1146/annurev-med-111212-144716.

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30

Smith, Richard J. H., and Stephen Hone. "Genetic screening for deafness." Pediatric Clinics of North America 50, no. 2 (2003): 315–29. http://dx.doi.org/10.1016/s0031-3955(03)00026-9.

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31

Williams, D. K., and I. D. Young. "Implications of genetic screening." Current Obstetrics & Gynaecology 7, no. 3 (1997): 180–81. http://dx.doi.org/10.1016/s0957-5847(97)80082-0.

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32

Harper, Peter S. "What is Genetic Screening?" Journal of Medical Screening 3, no. 3 (1996): 165–66. http://dx.doi.org/10.1177/096914139600300314.

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33

Gregg, Anthony R., and Joe Leigh Simpson. "Genetic screening and counseling." Obstetrics and Gynecology Clinics of North America 29, no. 2 (2002): xi—xii. http://dx.doi.org/10.1016/s0889-8545(02)00006-2.

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34

Washburn, Newell R. "Screening for genetic anomalies." American Journal of Obstetrics and Gynecology 157, no. 1 (1987): 212. http://dx.doi.org/10.1016/s0002-9378(87)80384-8.

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35

Connor, J. Michael. "Screening for genetic abnormality." Fetal and Maternal Medicine Review 1, no. 01 (1989): 13. http://dx.doi.org/10.1017/s096553950000005x.

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36

Philip, Nicole. "Screening for genetic disorders." Child's Nervous System 19, no. 7-8 (2003): 436–39. http://dx.doi.org/10.1007/s00381-003-0779-0.

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37

Williams, Janet K. "Screening for genetic disorders." Journal of Pediatric Health Care 3, no. 3 (1989): 115–21. http://dx.doi.org/10.1016/0891-5245(89)90060-6.

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38

Uzych, L. "Genetic screening and ethics." Journal of Medical Ethics 22, no. 1 (1996): 53–54. http://dx.doi.org/10.1136/jme.22.1.53.

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39

Crisp, R. "Genetic screening: ethical issues." Journal of Medical Ethics 20, no. 4 (1994): 264–65. http://dx.doi.org/10.1136/jme.20.4.264.

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40

KOLATA, G. "Genetic Screening Issues Studied." Science 232, no. 4748 (1986): 318. http://dx.doi.org/10.1126/science.232.4748.318.

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41

Norton, Mary E. "Genetic screening and counseling." Current Opinion in Obstetrics and Gynecology 20, no. 2 (2008): 157–63. http://dx.doi.org/10.1097/gco.0b013e3282f73230.

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42

Elias, Sherman, and George J. Annas. "Routine Prenatal Genetic Screening." New England Journal of Medicine 317, no. 22 (1987): 1407–9. http://dx.doi.org/10.1056/nejm198711263172208.

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43

Lau, Tze Kin, and Tse Ngong Leung. "Genetic screening and diagnosis." Current Opinion in Obstetrics and Gynecology 17, no. 2 (2005): 163–69. http://dx.doi.org/10.1097/01.gco.0000162187.99219.e0.

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44

Cao, Antonio, Maria Cristina Rosatelli, and Renzo Galanello. "Population-based genetic screening." Current Opinion in Genetics & Development 1, no. 1 (1991): 48–53. http://dx.doi.org/10.1016/0959-437x(91)80040-s.

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45

Orentlicher, David. "Genetic Screening by Employers." JAMA: The Journal of the American Medical Association 263, no. 7 (1990): 1005. http://dx.doi.org/10.1001/jama.1990.03440070093040.

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46

Cornel, Martina C., Karuna R. M. van der Meij, Carla G. van El, Tessel Rigter, and Lidewij Henneman. "Genetic Screening—Emerging Issues." Genes 15, no. 5 (2024): 581. http://dx.doi.org/10.3390/genes15050581.

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In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and

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47

Motulsky, Arno G. "Societal problems in human and medical genetics." Genome 31, no. 2 (1989): 870–75. http://dx.doi.org/10.1139/g89-153.

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The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human he

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48

Markossian, Sarine, Kenny K. Ang, Christopher G. Wilson, and Michelle R. Arkin. "Small-Molecule Screening for Genetic Diseases." Annual Review of Genomics and Human Genetics 19, no. 1 (2018): 263–88. http://dx.doi.org/10.1146/annurev-genom-083117-021452.

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The genetic determinants of many diseases, including monogenic diseases and cancers, have been identified; nevertheless, targeted therapy remains elusive for most. High-throughput screening (HTS) of small molecules, including high-content analysis (HCA), has been an important technology for the discovery of molecular tools and new therapeutics. HTS can be based on modulation of a known disease target (called reverse chemical genetics) or modulation of a disease-associated mechanism or phenotype (forward chemical genetics). Prominent target-based successes include modulators of transthyretin, u

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49

Brezina, Paul R., Raymond W. Ke, and William H. Kutteh. "Preimplantation Genetic Screening: A Practical Guide." Clinical Medicine Insights: Reproductive Health 7 (January 2013): CMRH.S10852. http://dx.doi.org/10.4137/cmrh.s10852.

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The past several decades have seen tremendous advances in the field of medical genetics. The application of genetic technologies to the field of reproductive medicine has ushered in a new era of medicine that is likely to greatly expand in the coming years. Concurrent with an in vitro fertilization (IVF) cycle, it is now possible to obtain a cellular biopsy from a developing embryo and genetically evaluate this sample with increasing sophistication and detail. Preimplantation genetic screening (PGS) is the practice of determining the presence of aneuploidy (either too many or too few chromosom

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50

van El, Carla Geertruida, Toine Pieters, and Martina Cornel. "Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands." Journal of Community Genetics 3, no. 2 (2011): 79–89. http://dx.doi.org/10.1007/s12687-011-0063-z.

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