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ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN
Mustafin, R.N., Bermisheva, M.A., Karunas, A.S., Akhmetshin, A.A., Monakhova, A.S., Khusnutdinova, E.K. (2025)
method. To search for the pathogenic variants we found in publications by other authors, we analyzed
SPECTRUM AND FREQUENCY OF THE GJB2 GENE PATHOGENIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH HEARING IMPAIRMENT LIVING IN A SUBARCTIC REGION OF RUSSIA (THE SAKHA REPUBLIC)
Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A. (2016)
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause
ASSOCIATION OF 22 POTENTIAL PATHOGENIC VARIANTS OF NEW CANDIDATE GENES AND THE RISK OF OVARIAN CANCER
Mingazheva, E.T., Prokofyeva, D.S., Valova, Ya.V., Andreeva, E.A., Nurgalieva, A.Kh., Valiev, R.R., Ekomasova, N.V., Faishanova, R.R., Romanova, A.R., Khusnutdinova, E.K. (2022)
2, CHEK2 and NBN genes, potentially pathogenic genetic variants in new breast and ovarian cancer
Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer
Lenkova, Ksenia, Khusainova, Rita, Minyazeva, Raushaniya, Zaripova, Aliya, Gilyazova, Irina, Mokrysheva, Natalia, Minniakhmetov, Ildar (2024)
sequence alterations. Variants were classified according to pathogenicity and clinical relevance, based
Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
Nurgalieva, A., Galliamova, L., Ekomasova, N., Yankina, M., Sakaeva, D., Valiev, R., Prokofyeva, D., Dzhaubermezov, M., Fedorova, Y., Khusnutdinov, S., Khusnutdinova, E. (2023)
stomach tissue from the same patient. Three pathogenic variants were identified: c.1320+1G>A in the CDH1
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)
The role of pathogenic germline mutations of BRCA1/2, NBS1, and CHEK2 genes in gastric cancer
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region
Khidiyatova, Irina, Khidiyatova, Indira, Zinchenko, Rena, Marakhonov, Andrey, Karunas, Alexandra, Avkhadeeva, Svetlana, Aznzbaev, Marat, Khusnutdinova, Elza (2023)
pathogenic nucleotide variants were identified in ten unrelated families, nine of which had cataracts
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
Subbotin, Dmitrii, Ionova, Sofya, Marakhonov, Andrey, Saifullina, Elena, Borovikov, Artem, Akhmadeeva, Leila, Chausova, Polina, Ryzhkova, Oksana, Zinchenko, Rena, Kutsev, Sergey, Murtazina, Aysylu (2024)
_170delinsTT (p.(Ala57Phe)) variant in the GNE gene (NM_001128227.3) among different ethnic populations (Mari
Breast cancer risk genes - Association analysis in more than 113,000 women
Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Luccarini, C., Wahlström, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Bermisheva, M., Khusnutdinova, E., Prokofyeva, D., other additional authors (2021)
according to domain and classification of pathogenicity. RESULTS Protein-truncating variants in 5 genes (ATM
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant
Elena, Merkuryeva, Tatiana, Markova, Anton, Tyurin, Diana, Valeeva, Vladimir, Kenis, Maria, Sumina, Igor, Sorokin, Olga, Shchagina, Mikhail, Skoblov, Maria, Nefedova, Rita, Khusainova, Ekaterina, Zakharova, Dadali, Elena, Kutsev, Sergey (2023)
with osteogenesis imperfecta. The disease is caused by pathogenic variants in the SGMS2 gene, the protein product

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