المؤلفون: S. V. Nikitin, S. P. Knyazev, V. A. Trifonov, A. A. Proskuryakova, Yu. D. Shmidt, K. S. Shatokhin, V. I. Zaporozhets, D. S. Bashur, E. V. Korshunova, V. I. Ermolaev, С. В. Никитин, С. П. Князев, В. А. Трифонов, А. А. Проскурякова, Ю. Д. Шмидт, К. С. Шатохин, В. И. Запорожец, Д. С. Башур, Е. В. Коршунова, В. И. Ермолаев

المساهمون: The work was supported by government funding within project No. 0259-2021-0015. The English language was corrected and certified by shevchuk-editing.com

المصدر: Vavilov Journal of Genetics and Breeding; Том 25, № 6 (2021); 652-660 ; Вавиловский журнал генетики и селекции; Том 25, № 6 (2021); 652-660 ; 2500-3259 ; 2500-0462 ; 10.18699//VJ21.06

مصطلحات موضوعية: неполная пенетрантность, multi-fingeredness, lateral and medial position, mini-pigs of ICG SB RAS, recessive inheritance, incomplete penentrance, многопалость, латеральное и медиальное положение, мини-свиньи ИЦиГ СО РАН, рецессивное наследование

وصف الملف: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/3139/1548; Beklemisheva V.R., Perelman P.L., Lemskaya N.A., Kulemzina A.I., Proskuryakova A.A., Burkanov V.N., Graphodatsky A.S. The ancestral carnivore karyotype as substantiated by comparative chromosome painting of three pinnipeds, the walrus, the Steller sea lion and the Baikal seal (Pinnipedia, Carnivora). PloS One. 2016;11(1): e0147647. DOI 10.1371/journal.pone.0147647.; Glagolev P.A., Ippolitova V.I. Anatomy of Farm Animals with the Basics of Histology and Embryology. Moscow: Kolos Publ., 1977. (in Russian); Gorbach D., Mote B., Totir L., Fernando R., Rothschild M. Polydactyl inheritance in the pig. J. Hered. 2010;101(4):469-475. DOI 10.1093/jhered/esq037.; Graphodatsky A.S., Perelman P.L., O’Brien S.J. Atlas of Mammalian Chromosomes. 2nd ed. N.Y.: Wiley-Blackwell. USA, 2020.; Graphodatsky A.S., Radzhabli S.I., Baranov O.K. Chromosomes of Farm and Laboratory Mammals: Atlas. Novosibirsk: Nauka Publ., 1988. (in Russian); Ivanchuk V.A. Biogenetic characteristics of rare and endangered breeds of pigs. Veterinariya Sel’skokhozyaystvennykh Zhivotnykh = Veterinary Medicine of Farm Animals. 2011;2:55-60. (in Russian); Kudryavtsev P.N. Breeding Business in Pig Husbandry. Moscow: OGIZ-Selkhozgiz Publ., 1948. (in Russian); Lakin G.F. Biometrics. Moscow: Vysshaya Shkola Publ., 1990. (in Russian); Lange A., Muller G.B. Polydactyly in development, inheritance, and evolution. Q. Rev. Biol. 2017;92(1):1-38. DOI 10.1086/690841.; Lebedev M.I., Zelenevsky N.V. Tutorial on the Anatomy of Farm Animals. St. Petersburg: Agropromizdat Publ., 1995. (in Russian); Malynicz G.L. Complete polydactylism in Papua New Guinea village pig, with otocephalic homozygous monsters. Ann. Genet. Sel. Anim. 1982;14(3):415-420. DOI 10.1186/1297-9686-14-3-415.; Nikitin S.V., Knyazev S.P., Shatokhin K.S. Miniature pigs of ICG as a model object for morphogenetic research. Rus. J. Genet. Appl. Res. 2014;4(6):511-522.; Ptak W. Polydactyly in wild boar. Acta Theriologica. 1963;6:312-314.; Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971;2:971-972. DOI 10.1016/s0140-6736(71)90287-x.; Sokolov V.E. Taxonomy of Mammals. Pt. 3. Moscow: Vysshaya Shkola Publ., 1979. (in Russian); Stanyon R., Galleni L. A rapid fibroblast culture technique for high resolution karyotypes. Ital. J. Zool. 1991;58:81-83. DOI 10.1080/11250009109355732.; Tickhonov V.N., Kochneva M.L., Bobovich V.E. Introduction of karyotypic polymorphism (2n = 36, 37, 38) in genome of domestic pigs Sus scrofa domestica. Informatcionny Vestnik VOGiS = The Herald of Vavilov Society for Geneticists and Breeding Scientists. 2010;14(4):647-653. (in Russian); Wiesner E., Wheller Z. Veterinärmedizinische Pathogenetik. Jena, 1974. (Russ. ed.: Wiesner E., Wheller Z. Veterinary Pathogenetics. Moscow: Kolos Publ., 1979. (in Russian)); https://vavilov.elpub.ru/jour/article/view/3139

الاتاحة: https://vavilov.elpub.ru/jour/article/view/3139
https://doi.org/10.18699/VJ21.074

المؤلفون: N. V. Shcherbakova, A. B. Zhironkina, V. Yu. Voinova, R. A. Ildarova, M. A. Shkolnikova, Н. В. Щербакова, А. Б. Жиронкина, В. Ю. Воинова, Р. А. Ильдарова, М. А. Школьникова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 3 (2021); 12-19 ; Российский вестник перинатологии и педиатрии; Том 66, № 3 (2021); 12-19 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2021-66-3

مصطلحات موضوعية: шкалы генетического риска, hereditary diseases, cardiology, phenotypic variability, incomplete penetrance, modifier variants, genetic risk scales, наследственные заболевания, кардиология, фенотипическая вариабельность, неполная пенетрантность, варианты-модификаторы

وصف الملف: application/pdf

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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat Genet. 2021; 53: 128–134. DOI:10.1038/s41588-020-00762-2; Wijeyeratne Y.D., Tanck M.W., Mizusawa Y., Batchvarov V., Barc J., Crotti L. et al. SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families. Circ Genomic Precis Med. 2020; 13: e002911. DOI:10.1161/CIRCGEN.120.002911; Khera A.V., Chaffin M., Aragam K.G., Haas M.E., Roselli C., Choi S.H. et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018; 50: 1219–1224. DOI:10.1038/s41588-018-0183-z; https://www.ped-perinatology.ru/jour/article/view/1400

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1400
https://doi.org/10.21508/1027-4065-2021-66-3-12-19

المؤلفون: E. Alekseeva A., O. Babenko V., V. Kozlova M., T. Ushakova L., T. Kazubskaya P., S. Sahakyan V., A. Tanas C., D. Zaletaev V., V. Strelnikov V., Е. Алексеева А., О. Бабенко В., В. Козлова М., Т. Ушакова Л., Т. Казубская П., С. Саакян В., А. Танас С., Д. Залетаев В., В. Стрельников В.

المصدر: Medical Genetics; Том 18, № 8 (2019); 21-28 ; Медицинская генетика; Том 18, № 8 (2019); 21-28 ; 2073-7998

مصطلحات موضوعية: наследственная ретинобластома, ген RB1, пенетрантность, экспрессивность, высокопроизводительное параллельное секвенирование ДНК, низкопенетрантная мутация, hereditary retinoblastoma, RB1, penetrance, expressivity, NGS, low-penetrant mutation

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/714/439; https://www.medgen-journal.ru/jour/article/view/714

الاتاحة: https://www.medgen-journal.ru/jour/article/view/714
https://doi.org/10.25557/2073-7998.2019.08.21-28

المؤلفون: Тиходеев, О., Журина, Т.

مصطلحات موضوعية: ФЕНОТИПИЧЕСКАЯ ИЗМЕНЧИВОСТЬ, СТОХАСТИЧЕСКИЕ ПРОЦЕССЫ, ШАПЕРОНЫ, ПЕНЕТРАНТНОСТЬ

وصف الملف: text/html

الاتاحة: http://cyberleninka.ru/article/n/avtonomnaya-izmenchivost-fenomen-i-vozmozhnye-mehanizmy
http://cyberleninka.ru/article_covers/14574692.png

المؤلفون: Кипень, В.Н., Снытков, Е.В., Смольник, Н.С., Мельнов, С.Б., Kipen, V.N., Snytkov, E.V., Smolnik, N.S., Melnov, S.B.

مصطلحات موضوعية: рак молочной железы, репарация, биотрансформация, пенетрантность, полиморфизм, риск развития заболевания, отношение шансов, меженные взаимодействия, выживаемость, breast cancer, reparation, biotransformation, penetrance, polymorphism, disease risk, odds ratio, intergenic interactions, survival

وصف الملف: application/pdf

Relation: Здоровье для всех : материалы VIII международной научно-практической конференции, посвященной 10-летию научно-исследовательской лаборатории лонгитудинальных исследований, Пинск, 18 - 19 апреля 2019 г. / Министерство образования Республики Беларусь [и др.]; редкол.: К.К. Шебеко [и др.]. – Пинск: ПолесГУ, 2019. – С. 136-142.; https://rep.polessu.by/handle/123456789/16162

الاتاحة: https://rep.polessu.by/handle/123456789/16162

المؤلفون: Tatyana V Zhurina, Oleg N Tikhodeyev

المصدر: Экологическая генетика, Vol 2, Iss 2, Pp 3-10 (2004)

مصطلحات موضوعية: Developmental stage, lcsh:QH426-470, Ecology, food and beverages, Biology, Biochemistry, фенотипическая изменчивость, шапероны, стохастические процессы, lcsh:Genetics, Variation (linguistics), Phenomenon, Genetics, пенетрантность, Genetics (clinical), Ecology, Evolution, Behavior and Systematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c14c16772fd0aff1c57f5ea9eaf315e
https://doi.org/10.17816/ecogen223-10

المصدر: Ecological genetics.

مصطلحات موضوعية: НЕПОЛНАЯ ПЕНЕТРАНТНОСТЬ, ВАРЬИРУЮЩАЯ ЭКСПРЕССИВНОСТЬ, ФЛУКТУИРУЮЩАЯ АСИММЕТРИЯ, МОЛЕКУЛЯРНАЯ СТОХАСТИКА, ГЕНОТИПИЧЕСКАЯ ИЗМЕНЧИВОСТЬ, ОНТОГЕНЕТИЧЕСКАЯ ИЗМЕНЧИВОСТЬ, МОДИФИКАЦИОННАЯ ИЗМЕНЧИВОСТЬ, ФЛУКТУАЦИОННАЯ ИЗМЕНЧИВОСТЬ

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2806::72e6626571d9187fcf4fb2de4537a527
http://cyberleninka.ru/article_covers/15445056.png

المصدر: Ecological genetics.

مصطلحات موضوعية: ФЕНОТИПИЧЕСКАЯ ИЗМЕНЧИВОСТЬ, СТОХАСТИЧЕСКИЕ ПРОЦЕССЫ, ШАПЕРОНЫ, ПЕНЕТРАНТНОСТЬ

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2806::d7b7c341273c8d50ed64fe3494b465da
http://cyberleninka.ru/article/n/avtonomnaya-izmenchivost-fenomen-i-vozmozhnye-mehanizmy