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RECONSTRUCTION OF SNP HAPLOTYPES WITH MUTATION C.-23+1G>A IN HUMAN GENE GJB2 (CHROMOSOME 13) IN SOME POPULATIONS OF EURASIA

Solovyev, A.V., Barashkov, N.A., Bady-Khoo, M.S., Zytsar, M.V., Posukh, O.L., Romanov, G.P., Rafailov, A.M., Sazonov, N.N., Alexeev, A.N., Dzhemileva, L.U., Khusnutdinova, E.K., Fedorova, S.A. (2017)

The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11

The role of pathogenic germline mutations of BRCA1/2, NBS1, and CHEK2 genes in gastric cancer development within the Volga-Ural region of Russia

Nurgalieva, A.Kh., Petrova, Sabina G., Gallyamova, Lilia F., Ekomasova, Natalia V., Sakaeva, Dina D., Fedorova, Yulia Yu, Dzhaubermezov, Murat A., Abdeev, Rustem R., Rakhimov, Radmir R., Khusnutdinova, Elza K., Prokofyeva, Darya S. (2025)

of this study was to compare the prevalence of mutations in the BRCA1 (c.68_69delAG, c.4035delA, c.5266dupC, c

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Nadyrshina, D., Zaripova, A., Tyurin, A., Minniakhmetov, I., Zakharova, E., Khusainova, R. (2022)

found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly

MUTATIONAL LANDSCAPE OF PROSTATE TUMORS REVEALED BY WHOLE-EXOME SEQUENCING

Gilyazova, I.R., Yankina, M.A., Kunsbaeva, G.B., Klimentova, E.A., Izmaylov, A.A., V.N. Pavlov, Khusnutdinova, E.K. (2016)

patient. Bioinformatics analysis was conducted and the most significant mutations in prostate cancer

LYNCH SYNDROME GERMLINE MUTATIONS IN BREAST CANCER: NEXT GENERATION SEQUENCING CASE-CONTROL STUDY OF 1,263 PARTICIPANTS

NIKITIN, A.G., CHUDAKOVA, D.A., ENIKEEV, R.F., GORDIEV, M.G., SAKAEVA, D., DRUZHKOV, M., SHIGAPOVA, L.H., BROVKINA, O.I., SHAGIMARDANOVA, E.I., GUSEV, O.A. (2020)

, and that there is an association of hereditary BC and mutations c.1321G>A in MLH1, c.260C>G and c.2178G>C in MSH2, c.3217C>T in MSH

Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)

Ayupova, Guzel, Litvinov, Sergey, Akhmetova, Vita, Minniakhmetov, Ildar, Mokrysheva, Natalia, Khusainova, Rita (2024)

194R, and 1525-1G>A, as well as the two previously described complex alleles—c. [S466X; R1070Q

Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

Khidiyatova, I.M., Saifullina, E.V., Karunas, A.S., Akhmetgaleyeva, A.F., Kutlubaeva, R.F., Smakova, L.A., Lobov, S.L., Polyakov, A.V., Shchagina, O.A., Kadnikova, V.A., Ryzhkova, O.P., Magzhanov, R.V. (2022)

families had a missense mutation c.1246C>T (p.Arg416Cys). The frequency of SPG3A among unrelated patients

TWO NOVEL MUTATIONS IN GENE SPG4 IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA

Akhmetgaleyevaa, A.F., Khidiyatovaa, I.M., Saifullinac, E.V., Idrisovad, R.F., Magzhanov, R.V., Khusnutdinovaa, E.K. (2016)

undescribed frameshift mutations c.322del29 (p.Val108SerfsX18) and c.885del10 (p.Thr295ThrfsX16) were detected

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Tyurin, Anton, Merkuryeva, Elena, Zaripova, Aliya, Markova, Tatyana, Nagornova, Tatyana, Dantsev, Ilya, Nadyrshina, Dina, Zakharova, Ekaterina, Khusainova, Rita (2022)

shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V

СПЕКТР И ЧАСТОТА МУТАЦИЙ В ГЕНАХ BRCA1, BRCA2, CHEK2, PALB2 И RAD50 У ПАЦИЕНТОК С РАКОМ МОЛОЧНОЙ ЖЕЛЕЗЫ В РЕСПУБЛИКЕ БАШКОРТОСТАН

SPECTRUM AND FREQUENCY OF BRCA1, BRCA2, CHEK2, PALB2, RAD50 MUTATIONS IN BREAST CANCER PATIENTS IN THE REPUBLIC OF BASHKORTOSTAN

GA - у 1 женщины. У 5 больных обнаружены мутации в гене CHEK2: у 3 пациенток - c.470T>C, у 2 - c.444+1G>A

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