المؤلفون: Evgeniia A. Sotnikova, Anna V. Kiseleva, Vladimir A. Kutsenko, Anastasia A. Zharikova, Vasily E. Ramensky, Mikhail G. Divashuk, Yuri V. Vyatkin, Marina V. Klimushina, Alexandra I. Ershova, Karina Z. Revazyan, Olga P. Skirko, Marija Zaicenoka, Irina A. Efimova, Maria S. Pokrovskaya, Oksana V. Kopylova, Anush M. Glechan, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina

المصدر: Journal of Personalized Medicine; Volume 12; Issue 7; Pages: 1132

مصطلحات موضوعية: carrier screening, CFTR, PAH, SERPINA1, GJB2, autosomal recessive disorders, population, allele frequency

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jpm12071132Test

الإتاحة: https://doi.org/10.3390/jpm12071132Test

المؤلفون: Ebony Richardson, Alison McEwen, Toby Newton-John, Ashley Crook, Chris Jacobs

المصدر: Journal of Personalized Medicine; Volume 12; Issue 8; Pages: 1310

مصطلحات موضوعية: reproductive genetic carrier screening, core outcome set, patient perspective

وصف الملف: application/pdf

العلاقة: Omics/Informatics; https://dx.doi.org/10.3390/jpm12081310Test

الإتاحة: https://doi.org/10.3390/jpm12081310Test

المؤلفون: M. T. Savvina, N. R. Maksimova, A. L. Sukhomyasova, I. N. Lebedev, М. Т. Саввина, Н. Р. Максимова, А. Л. Сухомясова, И. Н. Лебедев

المصدر: Medical Genetics; Том 21, № 1 (2022); 3-13 ; Медицинская генетика; Том 21, № 1 (2022); 3-13 ; 2073-7998

مصطلحات موضوعية: молекулярно-генетический скрининг, inherited diseases, heterozygous carriage, carrier screening, наследственные заболевания, гетерозиготное носительство

وصف الملف: application/pdf

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Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. American Journal of Human Genetics. 2001; 99: 70- 77.; Autti-Rämö I., Mäkelä M., Sintonen H. et al. Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland. Acta paediatrica. 2005; 8: 1126-1136. Doi:10.1111/j.1651-2227.2005.tb02056.x; STM Improving health through the use of genomic data. Finland’s genome strategy. Working Group Proposal. Raportteja ja muistioita (STM). 2015; 34. http://urn.fi/URN:ISBN:978-952-00-3598-3Test; Kääriäinen H., Muilu J., Perola M. et al. Genetics in an isolated population like Finland: a different basis for genomic medicine? J Community Genet. 2017; 8: 319-326. doi:10.1007/s12687-017-0318-4; Tardif J., Pratte A., Laberge A.M. Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. Prenatal diagnosis. 2018; 1: 67-74. doi:10.1002/pd.5055; Basel-Vanagaite L., Taub E., Halpern G.J. et al. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. European Journal of Human Genetics. 2007; 2: 250-253. doi:10.1038/sj.ejhg.5201750.; https://www.medgen-journal.ru/jour/article/view/2018Test

الإتاحة: https://doi.org/10.25557/2073-7998.2022.01.3-13Test
https://doi.org/10.1073/pnas.0507611102Test
https://doi.org/10.1101/gr.087577.108Test
https://doi.org/10.1016/j.jogc.2016.06.008Test
https://doi.org/10.1038/s41431-020-00767-9Test
https://doi.org/10.3390/genes11111377Test
https://doi.org/10.3109/03630261003677213Test
https://doi.org/10.2337/diabetes.51.3.856Test
https://doi.org/10.1007/s004390050756Test
https://doi.org/10.1002/humu.10019Test

المؤلفون: Mahzabin, Nishat, Islam, Ismat Ara, Dey, Mily, Jahan, Nusrat, Hasan Sajib, Md Kamrul, Shah, Md Salahuddin, Chowdhury, Romana, Aziz, Md Abdul, Kabir, Amin Lutful

المصدر: Bangabandhu Sheikh Mujib Medical University Journal; Vol. 15 No. 1 (2022); 25-28 ; 2224-7750 ; 2074-2908

مصطلحات موضوعية: Consanguineous marriage, Thalassaemia Major, Carrier Screening, Haemoglobin Electrophoresis

الوقت: Bangladesh

وصف الملف: application/pdf

العلاقة: https://www.banglajol.info/index.php/BSMMUJ/article/view/58424/41657Test; https://www.banglajol.info/index.php/BSMMUJ/article/view/58424Test

الإتاحة: https://www.banglajol.info/index.php/BSMMUJ/article/view/58424Test

المؤلفون: Das, Reena, Saleh, Sarkaft, Nielsen, Izabela, Kaviraj, Anilava, Sharma, Prashant, Dey, Kartick, Saha, Subrata

المصدر: Das , R , Saleh , S , Nielsen , I , Kaviraj , A , Sharma , P , Dey , K & Saha , S 2022 , ' Performance analysis of machine learning algorithms and screening formulae for β–thalassemia trait screening of Indian antenatal women ' , International Journal of Medical Informatics , vol. 167 , 104866 . https://doi.org/10.1016/j.ijmedinf.2022.104866Test

مصطلحات موضوعية: Antenatal Women, Diagnostic performance, Multi-criteria decision-making, Supervised machine learning algorithm, β-Thalassemia carrier screening, Diagnosis, Differential, beta-Thalassemia/diagnosis, Humans, Machine Learning, Pregnancy, Algorithms, Mass Screening, Anemia, Iron-Deficiency/diagnosis, Female, Hemoglobin, Sickle, Hemoglobin E

وصف الملف: application/pdf

العلاقة: https://vbn.aau.dk/da/publications/b8167b93-2d6c-4ea6-8326-af516f7f9f78Test

الإتاحة: https://doi.org/10.1016/j.ijmedinf.2022.104866Test
https://vbn.aau.dk/da/publications/b8167b93-2d6c-4ea6-8326-af516f7f9f78Test
https://vbn.aau.dk/ws/files/495551658/1_s2.0_S1386505622001800_main.pdfTest
http://www.scopus.com/inward/record.url?scp=85138480416&partnerID=8YFLogxKTest

المؤلفون: Kwok-yin Leung, Antoni Borrell, Mark I. Evans, Ming Chen

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: reproductive genetics, aneuploidy screening, expanded carrier screening, chromosomal microarray analysis, whole-exome sequencing, balanced chromosomal abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.828202/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/bc87df53d1f64314a61ad145952b60cfTest

المؤلفون: Vigorito, Elena, Kuchenbaecker, Karoline B, Beesley, Jonathan, Adlard, Julian, Agnarsson, Bjarni A, Andrulis, Irene L, Arun, Banu K, Barjhoux, Laure, Belotti, Muriel, Benitez, Javier, Berger, Andreas, Bojesen, Anders, Bonanni, Bernardo, Brewer, Carole, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Chan, Salina B, Claes, Kathleen BM, Cohn, David E, Cook, Jackie, Daly, Mary B, Damiola, Francesca, Davidson, Rosemarie, Pauw, Antoine de, Delnatte, Capucine, Diez, Orland, Domchek, Susan M, Dumont, Martine, Durda, Katarzyna, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana, Edwinsdotter Ardnor, Christina, Eeles, Ros, Ejlertsen, Bent, Ellis, Steve, Evans, D Gareth, Feliubadalo, Lidia, Fostira, Florentia, Foulkes, William D, Friedman, Eitan, Frost, Debra, Gaddam, Pragna, Ganz, Patricia A, Garber, Judy, Garcia-Barberan, Vanesa, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie, Giraud, Sophie, Godwin, Andrew K, Goldgar, David E, Hake, Christopher R, Hansen, Thomas VO, Healey, Sue, Hodgson, Shirley, Hogervorst, Frans BL, Houdayer, Claude, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jacobs, Lauren, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Karlan, Beth Y, Kast, Karin, KConFab Investigators, Khan, Sofia, Kwong, Ava, Laitman, Yael, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lubinski, Jan, Mai, Phuong L, Manoukian, Siranoush, Mazoyer, Sylvie, Meindl, Alfons, Mensenkamp, Arjen R, Montagna, Marco, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Park, Sue Kyung, Paulsson-Karlsson, Ylva, Pedersen, Inge Sokilde, Peissel, Bernard, Peterlongo, Paolo

المصدر: PloS one. 11(7)

مصطلحات موضوعية: KConFab Investigators, Chromosomes, Human, Pair 9, Humans, Ovarian Neoplasms, Genetic Predisposition to Disease, Chromosome Mapping, Polymorphism, Single Nucleotide, Genes, BRCA1, Genes, BRCA2, Female, Genetic Carrier Screening, General Science & Technology

الوصول الحر: https://escholarship.org/uc/item/207330cxTest

المؤلفون: Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu Sun

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, hereditary deafness, carrier screening, reproductive decision making, GJB2, SLC26A4

العلاقة: https://figshare.com/articles/dataset/Table1_Hereditary_deafness_carrier_screening_in_9_993_Chinese_individuals_XLSX/24978810Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1327258.s001Test
https://figshare.com/articles/dataset/Table1_Hereditary_deafness_carrier_screening_in_9_993_Chinese_individuals_XLSX/24978810Test

المؤلفون: Bing-bo Zhou, Xue Chen, Chuan Zhang, Yu-pei Wang, Pan-pan Ma, Sheng-ju Hao, Ling Hui, Yun-fei Bai

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, SMA carrier screening, genetics counseling, SMN1, pre-pregnancy, pregnancy

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_Analysis_of_spinal_muscular_atrophy_carrier_screening_results_in_32_416_pregnant_women_and_7_231_prepregnant_women_pdf/25566564Test

الإتاحة: https://doi.org/10.3389/fneur.2024.1357476.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Analysis_of_spinal_muscular_atrophy_carrier_screening_results_in_32_416_pregnant_women_and_7_231_prepregnant_women_pdf/25566564Test

المؤلفون: Yepei Du, Cong Zhou, Jing Wang, Yanting Yang, Hui Liu

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, α-thalassemia, β-thalassemia, carrier screening, NGS, fluorescence PCR melting curve method

العلاقة: https://figshare.com/articles/dataset/Table1_Screening_for_thalassemia_carriers_among_the_Han_population_of_childbearing_age_in_Southwestern_of_China_DOCX/25573098Test

الإتاحة: https://doi.org/10.3389/fgene.2024.1356068.s001Test
https://figshare.com/articles/dataset/Table1_Screening_for_thalassemia_carriers_among_the_Han_population_of_childbearing_age_in_Southwestern_of_China_DOCX/25573098Test