Výsledky vyhledávání - "A. V. Valochnik"

The first results of genetic screening and exploration of genotype-phenotype correlations in retinoblastoma patients from Belarus

Autor: I. E. Guryanova, A. V. Liubushkin, O. O. Makarevich, D. Yu. Litvinova, V. R. Vertеlko, A. V. Valochnik, E. A. Polyakova, A. A. Migas, N. E. Konoplya

Publikováno v: Pediatric Hematology/Oncology and Immunopathology. 21:78-88

Retinoblastoma is an aggressive eye tumor originating from maturing cone precursors in the developing retina and most commonly seen in childhood. In 98 % of patients, retinoblastoma is caused by bi-allelic inactivation of the RB1 tumor suppressor gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80adecc93e93616d1ee9085fafa9963a
https://doi.org/10.24287/1726-1708-2022-21-2-78-88

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Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia

Autor: Svetlana O. Sharapova, Irina E. Guryanova, Alena V. Valochnik, Inga S. Sakovich, Olga Aleinikova

Publikováno v: Immunogenetics. 70:613-617

Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d6a35bd57a9459e5e5138d4bec43a93
https://doi.org/10.1007/s00251-018-1056-4

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