يعرض 1 - 20 نتائج من 102 نتيجة بحث عن '"Meiotic segregation"', وقت الاستعلام: 0.57s تنقيح النتائج
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    المساهمون: Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Développement Embryonnaire, Fertilité et Environnement (DEFE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Arnaud de Villeneuve CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

    المصدر: ISSN: 1661-6596.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/36835074; PUBMED: 36835074; PUBMEDCENTRAL: PMC9965694

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    Academic Journal

    المصدر: Medical Genetics; Том 21, № 12 (2022); 64-70 ; Медицинская генетика; Том 21, № 12 (2022); 64-70 ; 2073-7998

    وصف الملف: application/pdf

    Relation: https://www.medgen-journal.ru/jour/article/view/2220/1685; Mau-Holzmann U.A. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res. 2005;111(3-4):317-36. doi:10.1159/000086906; Liehr T., Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics.Int. J. Mol. Med. 2007;19: 719-731 DOI: https://doi.org/10.3892/ijmm.19.5.719; Manvelyan M., Riegel M., Santos M., Fuster C., Pellestor F., Mazaurik M.L., et al. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.Int J Mol Med. 2008;21(6):705-14. DOI: https://doi.org/10.3892/ijmm.21.6.705; Liehr T. Small supernumerary marker chromosomes and tumors marker. In: Small supernumerary marker chromosomes (sSMC) [Internet]. 2012. p. 181. Available from: DOI: https://doi.org/10.1007/978-3-642-20766-2; Karamysheva T., Kosyakova N., Guediche N., Liehr T. Small supernumerary marker chromosomes and the nuclear architecture of sperm-a study in a fertile and an infertile brother. Syst Biol Reprod Med. 2015;6368(1):32-6. DOI: https://doi.org/10.3109/19396368.2014.979956; Тарлычева А.А., Маркова Ж.Г., Сорокина Т.М., Черных В.Б., Шилова Н.В. Частота анеуплоидии в сперматозоидах у мужчин с нарушением фертильности. Медицинская генетика. 2020; 19(3): 89-90. DOI: https://doi.org/10.25557/2073-7998.2020.03.89-90; Liehr T., Hamid Al-Rikabi A.B. Impaired spermatogenesis due to small supernumerary marker chromosomes: the reason for infertility is only reliably ascertainable by cytogenetics. Sex Dev. 2018;12(6):281-287. DOI: https://doi.org/10.1159/000491870; Гинтер Е.К., Золотухина Т.В., Антоненко В.Г., Шилова Н.В., Цветкова Т.Г., Жулева Л.Ю. Цитогенетические методы диагностики хромосомных болезней. Методическое пособие для врачей. М.; 2009; Шилова Н.В. Совершенствование подходов к диагностике хромосомных аномалий в рамках персонализированной медицины: дис. д-ра мед. наук. М., 2016; Liehr T. Small Supernumerary Marker Chromosomes (sSMC). A Guide for Human Geneticists and Clinicians. Springer Berlin, Heidelberg. 2012. DOI: https://doi.org/10.1007/978-3-642-20766-2; Kirkpatrick G., Ren H., Liehr T., Chow V., Ma S. Meiotic and sperm aneuploidy studies in three carriers of Robertsonian translocations and small supernumerary marker chromosomes. Fertil Steril [Internet]. 2015; 103(5):1162-1169.e7. DOI: https://doi.org/10.1016/j.fertnstert.2015.02.006; Pristyazhnyuk I.E., Menzorov A.G. Ring chromosomes: from formation to clinical potential. Protoplasma.2018; 255: 439-449. DOI: https://doi.org/10.1007/s00709-017-1165-1; Kosztolányi G. Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet. 1987; 75(2):174-179. DOI: https://doi.org/10.1007/BF00591082; Olszewska M., Wanowska E., Kishore A., Huleyuk N. Genetic dosage and position effect of small supernumerary marker chromosome ( sSMC ) in human sperm nuclei in infertile male patient. Nat Publ Gr [Internet]. 2015;(October):1-14. DOI: https://doi.org/10.1038/srep17408; Martin R. H. et al. The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes. Am. J. Med. Genet. 1986; 25: 381-388; Robinson D.O., Jacobs P.A. The origin of the extra Y chromosome in males with a. Hum Mol Genet. 1999;8(12):2205-10. DOI: https://doi.org/10.1093/hmg/8.12.2205; Perrin A. et al. Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review. Eur. J. Med. Genet. 2012;55, 743-746. DOI: https://doi.org/10.1016/j.ejmg.2012.09.004; Miller D.E. The Interchromosomal Effect: Different Meanings for Different Organisms. Genetics. 2020; 216(3): 621-631. DOI: https://doi.org/10.1534/genetics.120.303656; Kirkpatrick G., Ferguson K.A., Gao H., Tang S., Chow V., Yuen B.H., et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23:1679-83. DOI: https://doi.org/10.1093/humrep/den126; https://www.medgen-journal.ru/jour/article/view/2220

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    المؤلفون: N. Shilova V., Н. Шилова В.

    المصدر: Medical Genetics; Том 17, № 1 (2018); 41-49 ; Медицинская генетика; Том 17, № 1 (2018); 41-49 ; 2073-7998

    وصف الملف: application/pdf

    Relation: https://www.medgen-journal.ru/jour/article/view/382/284; Kochhar P, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynecol. Res. 2013;39: 113-120.; Vozdova M, Kasikova K, Oracova E. et al. The effect of the swim-up and hyaluronan-binding methods on the frequency of abnormal spermatozoa detected by FISH and SCSA in carriers of balanced chromosomal translocations. Hum. Reprod. 2012;27:930-937.; Armstrong S, Goldman A, Speed R. et al. Meiotic studies of a human male carrier of the common translocation, t(11;22), suggest postzygotic selection rather than preferential 3:1 M1 segregation as the cause of the liveborn offsprings with an unbalanced translocation. Am. J. Hum. Genet. 2000;67:601-609.; Midro A, Stengel-Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 1992; V. 41:113-122.; Van Derwerken D. Bayesian assessment of genetic risk in families with a balanced translocations. J. Genet. Counsel. 2015;24:541-547.; Jalbert P, Sele B, Jalbert H. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocations. Hum. Genet.1980;55:209-222.; Daniel A. Structural differences in reciprocal translocations. Hum. Genet.1979;51:171-182.; Cohen O, Cans C, Mermet M. et al. Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 1994; 93:188-194.; Scriven P, Flinter F, Khalaf Y. et al. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur. J. Hum. Genet. 2013;21:1035-1041.; Vozdova M,. Oracova E, Kasikova K et al. Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. J. Assist. Reprod. Genet. 2013;30:391.; Zhang Y, Zhu S, Wu J. et al. Quadrivalent asymmetry in reciprocal translocation carriers predict meiotic segregation patterns in cleavage stage embryos. Reproduct. Biomed. Online. 2014;29(4):490-498.; Cans C, Cohen O, Mermet M.et al. Human reciprocal translocations: is the imbalanced mode at birth predictable? Hum. Genet. 1993;21:228-232.; Anton E, Vidal F, Blanco J. Reciprocal translocations: tracing their meiotic behavior. Genet. Med. 2008;10:730-738.; Faraut T, Mermet M, Demongeot J. et al. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet. Cell Genet. 2000;88:15-21.; Petronczki M, Siomos M, Nasmyth K. Un menage a quatre: the molecular biology of chromosome segregation in meiosis. Cell. 2003;112:423-440.; Chromosome abnormalities and genetic counseling. Oxford monographs of medical genetics no. 6, Gardner RJ, Sutherland GR, Shaffer LG (eds); Int. Oxford press 2012.; Aguilar J, Bacallao-Guerra J, Bacallao-Gallestey J et. al. Estimating the risk for unbalanced chromosomal aberrations in the offspring from translocation-carrying parents. Biotecnologia Aplicada. 2011;28:156-160.; https://www.medgen-journal.ru/jour/article/view/382

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    المصدر: Medical Genetics; Том 17, № 6 (2018); 29-34 ; Медицинская генетика; Том 17, № 6 (2018); 29-34 ; 2073-7998

    وصف الملف: application/pdf

    Relation: https://www.medgen-journal.ru/jour/article/view/497/323; Patsalis PC, Evangelidou P, Charalambous S, Sismani C. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet. 2004;(12):647-653.; Schluth-Bolard C, Delobel B, Sanlaville D, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009;52(5):291-296.; Madan K. Balanced complex chromosome rearrangements: Reproductive aspects. A review. Am J Med Genet. 2012;Part A(158A):947-963.; Madan K, Nieuwint AW, van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet. 1997;99:806-815.; Pellestor F, Anahory T, Lefort G, et al. Complex chromosomal rearrangements: Origin and meiotic behaviour. Hum Reprod Update. 2011;(17):476-494.; Zhang F, Carvalho CMB, Lupski JR. Complex human chromosomal and genomic rearrangements. Trends Genet. 2009a;25:298-307.; De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in «balanced» reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007;44(12):750-762.; Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, et al. Balanced into array: Genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a metaanalysis. Eur J Hum Genet. 2011;(19):1152-1160.; Poot M, Haaf T. Mechanisms of origin, phenotypic effects and diagnostic implications of complex chromosome rearrangements. Mol Syndromol. 2015;6:110-134; Battisti C, Bonaglia MC, Giglio S, et al. De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. Am J Med Genet. 2003;117:27-211.; Шилова Н.В. Аутосомные реципрокные транслокации: пренатальная селекция, сегрегация и оценка эмпирического риска рождения жизнеспособного ребенка с хромосомным дисбалансом при семейном носительстве. Медицинская генетика. 2018;(187):41-49.; Batista DAS, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994;53:255-263.; Lespinasse J, North MO, Paravy C, et al. A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum Reprod. 2003;18:2058-2066.; Kontodiou M, Daskalakis G, Vetro A, et al. Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties. Cytogenet Genome Res. 2015;147(2-3):118-23.; Cody JD, Hasi M, Soileau B, et al. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014;133: 199-209.; Feenstra I, Vissers LE, Orsel M, et al. Genotype-phenotype mapping of chromosome 18q deletions by high resolution array CGH: an update of the phenotypic map. Am J Med Genet. 2007;143A:1858-1867.; Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoSgen. 2005;1:e49.; Goobie S, Knijnenburg f D, FitzPatrick H.et al. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res. 2008;123:65-78.; Giardino D, Corti C, Ballarati L, et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn. 2009;29:257-265.; Batanian JR, Eswara MS. De novo apparently balanced complex chromosomes rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: report and review. Am J Med Genet. 1998;78:44-51.; https://www.medgen-journal.ru/jour/article/view/497

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