Výsledky vyhledávání - "L E, Khitrikova"

[Results of estimation of mutation rates for translocation trisomy 21]

Autor: N V, Kovaleva, I V, Butomo, T N, Il'iashenko, I Iu, Vasil'eva, L E, Khitrikova, S K, Shandlorenko, M V, Prozorova

Publikováno v: Tsitologiia. 44(11)

Among 1332 cases of trisomy 21 born within 1979-1999 in St. Petersburg, 76(5.7%) were carriers of a translocation between chromosome 21 and other acrocentrics. Among 43 Dq; 21q translocations, 17 were inherited from the mother, and one was inherited

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d9056c83922f34fb98d6ee586191aa12
https://pubmed.ncbi.nlm.nih.gov/12561733

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[Karyological characteristics of Down's syndrome: clinical and theoretical aspects]

Autor: N V, Kovaleva, I V, Butomo, D K, Verlinskaia, T N, Il'iashenko, I G, Pantova, M V, Prozorova, L E, Khitrikova, S K, Shandlorenko

Publikováno v: Tsitologiia. 41(12)

These data have been collected from St. Petersburg Down Syndrome Register that comprises information on 1778 liveborn children with the Down syndrome, including three twin sets, ascertained within 1970-1996. Karyotypes were obtained in 1223 cases, of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::be494fbf9a5bda7a137b273396208824
https://pubmed.ncbi.nlm.nih.gov/10658271

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[Polymorphism of C-heterochromatin chromosome regions in the etiology of human aneuploidy]

Autor: N V, Kovaleva, I V, Butomo, M N, Pavlova, L E, Khitrikova

Publikováno v: Genetika. 29(9)

Cytogenetic study of the C-heterochromatic polymorphisms in 202 individuals from the Down's syndrome families and in 31 control individuals was undertaken. In 58 families the source of an additional chromosome was taken into account. It was shown tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::65d9722aee3d2a6c1ff1bfc8d16dc030
https://pubmed.ncbi.nlm.nih.gov/8276221

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[Possible disorder of tissue immunity function in mothers who have given birth to a child with Down's disease]

Autor: E F, Davidenkova, S M, Sokolova, I V, Butomo, L E, Khitrikova, A B, Chukhlovin

Publikováno v: Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952). 77(6)

The rates of DNA synthesis were studied in PHA-stimulated lymphocytes from the peripheral blood of mothers giving birth to a child with Down's disease. For control purposes a group of donors of the same age and sex were studied as wells. A decrease o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5bd41f227671762ac30980aeaaa51ad7
https://pubmed.ncbi.nlm.nih.gov/143174

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[Multiple chromosome aberrations in 3 generations of a family and Down's syndrome resulting from partial trisomy of chromosome 21 (q21--q22)]

Autor: I V, Butomo, M V, Prozorova, L E, Khitrikova

Publikováno v: TSitologiia i genetika. 18(3)

Two balanced translocations (1; 16) (q22; q11) and t(21; 22) (q21; p11), partial inversion of chromosome 9 and variant 16gh + were detected in the family of the child with Down's syndrome. The proband clinical picture was due to trisomy of the distal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c8a01c2a3711b4ae82bbcb8e9d6a99fe
https://pubmed.ncbi.nlm.nih.gov/6235655

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