Academic literature on the topic 'Genetic Carrier Screening'

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Journal articles on the topic "Genetic Carrier Screening"

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Buckley, Lauren E., Maeve K. Hopkins, and Jeffrey A. Kuller. "The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges." Obstetrical & Gynecological Survey 78, no. 8 (2023): 483–89. http://dx.doi.org/10.1097/ogx.0000000000001168.

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ABSTRACT Importance Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications. Objective This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening. Evidence Acquisiti
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Clevenger, Sydney K., Justin S. Brandt, Shama P. Khan, et al. "Rate of Manifesting Carriers and Other Unexpected Findings on Carrier Screening." Obstetrical & Gynecological Survey 78, no. 7 (2023): 391–93. http://dx.doi.org/10.1097/01.ogx.0000947136.14734.37.

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(Abstracted from Prenat Diagn 2023;43:117–125) Obstetric care includes many types of assessment of both mother and baby, including screening for genetic conditions. This can be done through genetic tests referred to as carrier screening, which detect carriers at risk to have children with autosomal recessive and X-linked recessive conditions.
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Driscoll, D. A., H. M. Sehdev, and D. A. Marchiano. "Prenatal Carrier Screening for Genetic Conditions." NeoReviews 5, no. 7 (2004): e290-e295. http://dx.doi.org/10.1542/neo.5-7-e290.

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Kirk, Edwin P., Martin B. Delatycki, Alison D. Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." New England Journal of Medicine 391, no. 20 (2024): 1877–89. http://dx.doi.org/10.1056/nejmoa2314768.

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Begleiter, Michael L., Janda L. Buchholz, Andrea M. Atherton, Lee Z. Mays, Molly M. Lund, and Meghan E. Strenk. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (2008): 461. http://dx.doi.org/10.1097/gim.0b013e318170f87e.

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Gross, Susan J., Beth A. Pletcher, and Kristin G. Monaghan. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (2008): 461–62. http://dx.doi.org/10.1097/gim.0b013e31817102e1.

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Kirk, E. P., M. B. Delatycki, A. D. Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." Obstetrical & Gynecological Survey 80, no. 5 (2025): 287–89. https://doi.org/10.1097/01.ogx.0001113780.63216.2a.

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(Abstracted from N Engl J Med 2024;391:1877–1889) Couple-based genetic carrier screening analyzes parental genetic samples before or early in pregnancy to assess the risk of autosomal and X-linked recessive diseases in their children. Previously, carriers were often unidentified until after having an affected child but advances in sequencing now allow simultaneous screening across thousands of genes, giving prospective parents greater insight into their risk.
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Kirk, EP, MB Delatycki, AD Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." Obstetric Anesthesia Digest 45, no. 1 (2025): 36–37. https://doi.org/10.1097/01.aoa.0001097628.96519.7d.

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(N Engl J Med. 2024;391:1877–1889. doi:10.1056/NEJMoa2314768) The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) aimed to assess the feasibility and outcomes of offering reproductive genetic carrier screening (RGCS) to more than 10,000 reproductive couples, focusing on the identification of pathogenic variants in genes associated with severe, childhood-onset conditions. The study tested these couples (free of charge) for pathogenic variants in at least 1281 genes, linked to about 750 autosomal recessive or X-linked conditions. The primary objective was to evalu
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Edwards, Samantha, and Nigel Laing. "Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review." Journal of Personalized Medicine 12, no. 10 (2022): 1699. http://dx.doi.org/10.3390/jpm12101699.

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Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier scre
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Briggs, Allison, Parvaneh Nouri, Michael Galloway, Jerome L. Yaklic, Rose Maxwell, and Steven Lindheim. "Genetic Carrier Screening (GCS) in Clinical Practice." Obstetrics & Gynecology 129 (May 2017): 81S. http://dx.doi.org/10.1097/01.aog.0000514902.97016.56.

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Dissertations / Theses on the topic "Genetic Carrier Screening"

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Lillie, Natasha. "Experiences of Adolescents and their Parents after Receiving Genomic Screening Results for the Adolescent." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin162326020995405.

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Stewart, Kai Anika Djenaba. "An examination of African American college students' knowledge and attitudes regarding sickle cell disease and sickle cell disease carrier testing a mixed methods study /." Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2007. https://www.mhsl.uab.edu/dt/2008r/stewart.pdf.

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PIRAS, ROBERTA. "Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia." Doctoral thesis, Università degli Studi di Cagliari, 2013. http://hdl.handle.net/11584/266119.

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Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. Functional and clinical studies supported the fact that they represent manifestations of the same autosomal recessive disorder caused by mutations in the CRLF1 gene with different degrees of severity. Anyway the debate about what term is more appropriate to
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Mennie, Moira E. "Prenatal genetic screening for cystic fibrosis carriers : implications for maternity care." Thesis, University of Edinburgh, 1995. http://hdl.handle.net/1842/20687.

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The psychological response of 64 women identified as CF carriers and their partners who received a negative test result were assessed together with selected controls on 4 further occasions: 10 on receiving the carrier's positive test result; 2) on receiving the partner's negative test result; 3) six weeks later; 4) six weeks after delivery. Knowledge of the genetics of CF and attitude to having been screened were measured by self-administered questionnaire. Compared to control subjects, carriers showed a significant increase in generalised psychological disturbance attributed specifically to s
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Metterville, Danielle R. "Assessing Fragile X premutation carriers' knowledge of the premutation phenotype." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23257.

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Puski, Athena Joy Bowen. "The Surgical and Management Decision-Making Process of BRCA1 and BRCA2 Mutation Carriers." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459588788.

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Hung, Chia-Cheng, and 洪加政. "The clinical applications of preimplantation genetic diagnosis, carrier screening for inherited genetic disorder and newborn genetic screening." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/56d6tm.

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博士<br>國立臺灣大學<br>基因體暨蛋白體醫學研究所<br>103<br>Introduction With the rapid development of genetic diagnostic technologies in recent years, there are more and more inherited diseases have been linked to single gene variation. Hence, the genetic testing is very important that can provide information about an individual’s genes or chromosomes. Recently, the common genetic tests include prenatal screening, carrier screening, preimplantation testing, forensic testing, newborn screening, and so on. However, because establishment of a standard protocol for genetic testing is not easy, the current genetic tes
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Krinshpun, Shifra. "Characterization of the Russian Jewish population in Brooklyn and assessment of their knowledge about genetic carrier screening /." 2005. http://wwwlib.umi.com/dissertations/fullcit/1431149.

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Books on the topic "Genetic Carrier Screening"

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United States. Congress. Office of Technology Assessment., ed. Genetic counseling and cystic fibrosis carrier screening: Results of a survey. Congress of the U.S., Office of Technology Assessment, 1992.

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T, Potter Nicholas, ed. Neurogenetics: Methods and protocols. Humana Press, 2003.

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US GOVERNMENT. Cystic Fibrosis and DNA Tests: Implications of Carrier Screening. Office of Technology Assessment, 1992.

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Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Amer College of Obstetricians &, 2001.

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US GOVERNMENT. Genetic Counseling and Cystic Fibrosis Carrier Screening: Results of a Survey (Background Paper). Office of Technology Assessment, 1992.

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Mathiesen, Amber, and Kali Roy. Foundations of Perinatal Genetic Counseling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190681098.001.0001.

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Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic screening and diagnosis, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling, including t
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Roy, Kali Bogaard, and Amber Mathiesen. Foundations of Perinatal Genetic Counseling. 2nd ed. Oxford University PressNew York, 2024. http://dx.doi.org/10.1093/med/9780197677179.001.0001.

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Abstract The Foundations of Perinatal Genetic Counseling (second edition) provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic testing, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counselin
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Neurogenetics: Methods and Protocols. Humana Press, 2003.

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Hemophilia. Exon Publications, 2021. http://dx.doi.org/10.36255/hemophilia.

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Hemophilia is a rare genetic disorder that affects the blood’s ability to clot, leading to prolonged or spontaneous bleeding. This article provides a comprehensive guide to understanding hemophilia, covering its causes, symptoms, and treatment options. It begins with an introduction to what hemophilia is and explains its impact on the body. The article describes the types of hemophilia, focusing on Hemophilia A and Hemophilia B, and their genetic basis involving mutations in the F8 and F9 genes. It explores how the condition is inherited, emphasizing its X-linked pattern, which primarily affec
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Book chapters on the topic "Genetic Carrier Screening"

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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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Ara, Anam, Poonam Mehta, and Rajender Singh. "Reproductive Carrier Screening." In Genetic Testing in Reproductive Medicine. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-7028-5_15.

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Ara, Anam, Poonam Mehta, and Rajender Singh. "Challenges in Reproductive Carrier Screening." In Genetic Testing in Reproductive Medicine. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-7028-5_20.

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Bender, Whitney, and Lorraine Dugoff. "Carrier Screening For Inherited Genetic Conditions." In Obstetric Evidence Based Guidelines, 4th ed. CRC Press, 2022. http://dx.doi.org/10.1201/9781003102342-6.

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Ara, Anam, Poonam Mehta, and Rajender Singh. "Ethical Solicitude in Reproductive Carrier Screening." In Genetic Testing in Reproductive Medicine. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-7028-5_18.

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Schroeder-Kurth, Traute. "Screening in Germany: Carrier screening, pre-natal care and other screening projects." In The Ethics of Genetic Screening. Springer Netherlands, 1999. http://dx.doi.org/10.1007/978-94-015-9323-6_7.

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Fedick, Anastasia, and Jinglan Zhang. "Next Generation of Carrier Screening." In Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56418-0_16.

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Martin, Julio, Arantxa Hervas, Ana Bover, Laura Santa, and Ana Cervero. "Carrier Screening for Single-Gene Disorders." In Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2nd ed. CRC Press, 2022. http://dx.doi.org/10.1201/9781003024941-4.

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Dugoff, Lorraine. "6. Carrier screening for inherited genetic conditions." In Obstetric Evidence Based Guidelines. CRC Press, 2016. http://dx.doi.org/10.1201/9781315200903-7.

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Cao, Antonio, M. Cristina Rosatelli, and Renzo Galanello. "Control of β-thalassaemia by Carrier Screening, Genetic Counselling and Prenatal Diagnosis: The Sardinian Experience." In Ciba Foundation Symposium 197 - Variation in the Human Genome. John Wiley & Sons, Ltd., 2007. http://dx.doi.org/10.1002/9780470514887.ch8.

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Conference papers on the topic "Genetic Carrier Screening"

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Abraham, A., JJ Guillén, M. Palahí, E. Alsina, R. Vassena, and A. Rodriguez. "Expanded genetic carrier screening decreases the risk of conceiving an affected child in both selected and unselected populations." In Jahrestagung der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) gemeinsam mit der Bayerischen Gesellschaft für Geburtshilfe und Frauenheilkunde e.V (BGGF). Georg Thieme Verlag KG, 2017. http://dx.doi.org/10.1055/s-0037-1602311.

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"DNA-microarray as an alternative diagnostic tool for targeted genetic carrier screening in population of Yakut ethnic group." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-242.

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Abraham, A., JJ Guillén, M. Palahí, E. Alsina, R. Vassena, and A. Rodriguez. "Expanded genetic carrier screening decreases the risk of conceiving an affected child in both selected and unselected populations." In 62. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe – DGGG'18. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1670970.

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Jørgensen, Louise Bidstrup, John Brandt Brodersen, and Alexandra Brandt Ryborg Jønsson. "100 Women’s responses to proposed genetic carrier screening for cystic fibrosis in pregnancy in Denmark: a case study informed by individual interviews." In Preventing Overdiagnosis meeting Abstracts 2023. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/ebm-2023-pod.100.

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Syed, BibiAsma, Mashael Alshafai, and Karam Turk-Adawi. "Prevalence of At-Risk Marriages among Couples attending Premarital Screening (PMS) Programs: A Systematic Review and Meta-Analysis." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0167.

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Background: Hemoglobinopathies are among the most common inherited genetic diseases. The World Health Organization estimates that at least 5% of the world’s population are carriers for hemoglobinopathies (2.9% for thalassemia and 2.3% for sickle cell disease). Programs like premarital screening (PMS) have been developed in most Middle East countries on a mandatory basis to reduce atrisk marriages by providing counseling after a confirmed “genetic carrier” state for hemoglobinopathies. Aim/Objective: The aim of this systematic review and meta-analysis was to estimate the prevalence of atrisk ma
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Ostroverkhova, N. V. "DARK FOREST BEE APIS MELLIFERA MELLIFERA L. IN SIBERIA: CURRENT STATE AND WAYS OF POPULATION CONSERVATION." In V International Scientific Conference CONCEPTUAL AND APPLIED ASPECTS OF INVERTEBRATE SCIENTIFIC RESEARCH AND BIOLOGICAL EDUCATION. Tomsk State University Press, 2020. http://dx.doi.org/10.17223/978-5-94621-931-0-2020-56.

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Screening studies of the honey bee in Siberia made it possible to identify the dark forest bee Apis mellifera mellifera populations in the Tomsk region, Krasnoyarsk and Altai territories, and the Altai Republic. A comparative analysis of the genetic diversity of the dark forest bee populations of Siberia, the Urals and Europe, carried out according to the data of the molecular genetic study of the mitochondrial and nuclear genomes, suggests the existence of the Siberian ecotype of the Middle Russian breed. The studied bee colonies are characterized by a high adaptive potential (high degree of
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TRUKHACHEV, Vladimir, Sergey OLEYNIK, Nikolay ZLYDNEV, and Vitaliy MOROZOV. "SCREENING OF COMPLEX VERTEBRAL MALFORMATION (CVM) AND BOVINE LEUKOCYTE ADHESION DEFICIENCY (BLAD) IN THE AYRSHIRE CATTLE BREED IN THE NORTH CAUCASUS." In RURAL DEVELOPMENT. Aleksandras Stulginskis University, 2018. http://dx.doi.org/10.15544/rd.2017.142.

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The Ayrshire dairy breed is renowned for producing large quantities of high quality milk and, therefore, is frequently used for crossbreeding. However, various hereditary anomalies caused by gene mutations have been recently recorded in calves produced by some Ayrshire sires. Most of these anomalies were shown to have a recessive inheritance pattern, thus imposing a threat of unpredictable dramatic changes in cattle genotypes under such factors as genetic drift, selection and inbreeding. The purpose of this study was to examine the susceptibility of the Ayrshire cattle bred in the North Caucas
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Jovanović, Sofija, Radoljupka Radosavljević, Marko Milosavljević, and Nikola Kuburović. "Breast cancer screening and the importance of centralized EHR screening systems in the Republic of Serbia: An overview." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24207j.

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Breast cancer (BC) remains the most common malignancy among women in Serbia, contributing significantly to both cancer morbidity and mortality annually. In December 2012, in response to the then-growing incidence of BC, the Republic of Serbia implemented a National Program for early BC detection, aligned with recommendations from the World Health Organization (WHO) and globally enforced practices. The program targets women aged 50 to 69 who are at higher risk for BC and is carried out in twoyear screening cycles designed to ensure comprehensive population coverage. All eligible women are encou
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Novik, N. V., A. A. Lebedev, and I. A. Yakub. "Genetic sources of economically valuable characteristics for breeding yellow lupine." In Растениеводство и луговодство. Тимирязевская сельскохозяйственная академия, 2020. http://dx.doi.org/10.26897/978-5-9675-1762-4-2020-126.

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Screening of world gene bank is carried out to develop initial material for yellow lupin breeding. During 2018-2020 the following genetic sources have been selected: the Polish variety Parus (k-3371) as a semi-early ripened source for plant tallness, high growth tempo and high green mass productivity; the variety Puissant (k-2170) as a source for plant tallness, high seed productivity and seed protein content; the variety SV 01060 (k-2193) as a source for plant tallness, moderate period of ripening, high green mass productivity, seed protein content and their size; the lines Tromusillo-2 (k-32
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Bancroft, Elizabeth K., Elena Castro, Elizabeth C. Dalby, and Rosalind A. Eeles. "Abstract 1818: Identification of men with a genetic predisposition to prostate cancer: Targeted screening ofBRCA1/2mutation carriers and controls; The IMPACT study." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-1818.

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Reports on the topic "Genetic Carrier Screening"

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Malkinson, Mertyn, Irit Davidson, Moshe Kotler, and Richard L. Witter. Epidemiology of Avian Leukosis Virus-subtype J Infection in Broiler Breeder Flocks of Poultry and its Eradication from Pedigree Breeding Stock. United States Department of Agriculture, 2003. http://dx.doi.org/10.32747/2003.7586459.bard.

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Objectives 1. Establish diagnostic procedures to identify tolerant carrier birds based on a) Isolation of ALV-J from blood, b) Detection of group-specific antigen in cloacal swabs and egg albumen. Application of these procedures to broiler breeder flocks with the purpose of removing virus positive birds from the breeding program. 2. Survey the AL V-J infection status of foundation lines to estimate the feasibility of the eradication program 3. Investigate virus transmission through the embryonated egg (vertical) and between chicks in the early post-hatch period (horizontal). Establish a model
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Sela, Shlomo, and Michael McClelland. Desiccation Tolerance in Salmonella and its Implications. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7594389.bard.

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Salmonella enterica is a worldwide food-borne pathogen, which regularly causes large outbreaks of food poisoning. Recent outbreaks linked to consumption of contaminated foods with low water-activity, have raised interest in understanding the factors that control fitness of this pathogen to dry environment. Consequently, the general objective of this study was to extend our knowledge on desiccation tolerance and long-term persistence of Salmonella. We discovered that dehydrated STm entered into a viable-but-nonculturable state, and that addition of chloramphenicol reduced bacterial survival. Th
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Fahima, Tzion, and Jorge Dubcovsky. Map-based cloning of the novel stripe rust resistance gene YrG303 and its use to engineer 1B chromosome with multiple beneficial traits. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7598147.bard.

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Research problem: Bread wheat (Triticumaestivum) provides approximately 20% of the calories and proteins consumed by humankind. As the world population continues to increase, it is necessary to improve wheat yields, increase grain quality, and minimize the losses produced by biotic and abiotic stresses. Stripe rust, caused by Pucciniastriiformisf. sp. tritici(Pst), is one of the most destructive diseases of wheat. The new pathogen races are more virulent and aggressive than previous ones and have produced large economic losses. A rich source for stripe-rust resistance genes (Yr) was found in w
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Eyal, Yoram, and Sheila McCormick. Molecular Mechanisms of Pollen-Pistil Interactions in Interspecific Crossing Barriers in the Tomato Family. United States Department of Agriculture, 2000. http://dx.doi.org/10.32747/2000.7573076.bard.

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During the evolutionary process of speciation in plants, naturally occurring barriers to reproduction have developed that affect the transfer of genes within and between related species. These barriers can occur at several different levels beginning with pollination-barriers and ending with hybrid-breakdown. The interaction between pollen and pistils presents one of the major barriers to intra- and inter-specific crosses and is the focus of this research project. Our long-term goal in this research proposal was defined to resolve questions on recognition and communication during pollen-pistil
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Zhao, Bingyu, Saul Burdman, Ronald Walcott, and Gregory E. Welbaum. Control of Bacterial Fruit Blotch of Cucurbits Using the Maize Non-Host Disease Resistance Gene Rxo1. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7699843.bard.

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The specific objectives of this BARD proposal were: (1) To determine whether Rxol can recognize AacavrRxo1 to trigger BFB disease resistance in stable transgenic watermelon plants. (2) To determine the distribution of Aac-avrRxo1 in a global population of Aae and to characterize the biological function of Aac-avrRxo1. (3) To characterize other TIS effectors of Aae and to identify plant R gene(s) that can recognize conserved TIS effectors of this pathogen. Background to the topic: Bacterial fruit blotch (BFB) of cucurbits, caused by Acidovorax avenae subsp. citrulli (Aae), is a devastating dise
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