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Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.

Molecular syndromology

Suspitsin EN, Sokolenko AP, Lyazina LV, Preobrazhenskaya EV, Lepenchuk AY, Imyanitov EN.
PMID: 26557828
Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly...

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Suspitsin EN, Sokolenko AP, Lyazina LV, et al. Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Mol Syndromol. 2015;6(2):96-8doi: 10.1159/000371408.
Suspitsin, E. N., Sokolenko, A. P., Lyazina, L. V., Preobrazhenskaya, E. V., Lepenchuk, A. Y., & Imyanitov, E. N. (2015). Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Molecular syndromology, 6(2), 96-8. https://doi.org/10.1159/000371408
Suspitsin, Evgeny N, et al. "Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7." Molecular syndromology vol. 6,2 (2015): 96-8. doi: https://doi.org/10.1159/000371408
Suspitsin EN, Sokolenko AP, Lyazina LV, Preobrazhenskaya EV, Lepenchuk AY, Imyanitov EN. Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24. PMID: 26557828; PMCID: PMC4574611.
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High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients.

Hereditary cancer in clinical practice

Suspitsin EN, Sherina NY, Ponomariova DN, Sokolenko AP, Iyevleva AG, Gorodnova TV, Zaitseva OA, Yatsuk OS, Togo AV, Tkachenko NN, Shiyanov GA, Lobeiko OS, Krylova NY, Matsko DE, Maximov SY, Urmancheyeva AF, Porhanova NV, Imyanitov EN.
PMID: 19338682
Hered Cancer Clin Pract. 2009 Feb 25;7(1):5. doi: 10.1186/1897-4287-7-5.

BACKGROUND: A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations...

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Suspitsin EN, Sherina NY, Ponomariova DN, et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract. 2009;7(1):5doi: 10.1186/1897-4287-7-5.
Suspitsin, E. N., Sherina, N. Y., Ponomariova, D. N., Sokolenko, A. P., Iyevleva, A. G., Gorodnova, T. V., Zaitseva, O. A., Yatsuk, O. S., Togo, A. V., Tkachenko, N. N., Shiyanov, G. A., Lobeiko, O. S., Krylova, N. Y., Matsko, D. E., Maximov, S. Y., Urmancheyeva, A. F., Porhanova, N. V., & Imyanitov, E. N. (2009). High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hereditary cancer in clinical practice, 7(1), 5. https://doi.org/10.1186/1897-4287-7-5
Suspitsin, Evgeny N, et al. "High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients." Hereditary cancer in clinical practice vol. 7,1 (2009): 5. doi: https://doi.org/10.1186/1897-4287-7-5
Suspitsin EN, Sherina NY, Ponomariova DN, Sokolenko AP, Iyevleva AG, Gorodnova TV, Zaitseva OA, Yatsuk OS, Togo AV, Tkachenko NN, Shiyanov GA, Lobeiko OS, Krylova NY, Matsko DE, Maximov SY, Urmancheyeva AF, Porhanova NV, Imyanitov EN. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract. 2009 Feb 25;7(1):5. doi: 10.1186/1897-4287-7-5. PMID: 19338682; PMCID: PMC2664323.
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[Lung cancer--histopathology and molecular pathogenesis].

Arkhiv patologii

Matsko DE, Zhelbunova EA, Imianitov EN.
PMID: 18314543
Arkh Patol. 2007;2-24.

No abstract available.

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Matsko DE, Zhelbunova EA, Imianitov EN. [Lung cancer--histopathology and molecular pathogenesis]. Arkh Patol. 2007;2-24
Matsko, D. E., Zhelbunova, E. A., & Imianitov, E. N. (2007). [Lung cancer--histopathology and molecular pathogenesis]. Arkhiv patologii, 2-24.
Matsko, Dmitriĭ Evgen'evich, et al. "[Lung cancer--histopathology and molecular pathogenesis]." Arkhiv patologii vol. (2007): 2-24.
Matsko DE, Zhelbunova EA, Imianitov EN. [Lung cancer--histopathology and molecular pathogenesis]. Arkh Patol. 2007;2-24. Russian. PMID: 18314543.
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Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin.

Hereditary cancer in clinical practice

Gorodnova TV, Sokolenko AP, Kotiv KB, Sokolova TN, Ivantsov AO, Guseynov KD, Nekrasova EA, Smirnova OA, Berlev IV, Imyanitov EN.
PMID: 33536037
Hered Cancer Clin Pract. 2021 Feb 03;19(1):14. doi: 10.1186/s13053-021-00173-2.

BACKGROUND: Cisplatin, mitomycin C and anthracyclines demonstrate high activity in BRCA1-deficient tumors. This study aimed to evaluate the efficacy of the triplet combination of these drugs in BRCA1-driven high-grade serous ovarian carcinomas (HGSOCs).METHODS: Ten HGSOC patients with germ-line BRCA1...

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Gorodnova TV, Sokolenko AP, Kotiv KB, et al. Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin. Hered Cancer Clin Pract. 2021;19(1):14doi: 10.1186/s13053-021-00173-2.
Gorodnova, T. V., Sokolenko, A. P., Kotiv, K. B., Sokolova, T. N., Ivantsov, A. O., Guseynov, K. D., Nekrasova, E. A., Smirnova, O. A., Berlev, I. V., & Imyanitov, E. N. (2021). Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin. Hereditary cancer in clinical practice, 19(1), 14. https://doi.org/10.1186/s13053-021-00173-2
Gorodnova, Tatiana V, et al. "Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin." Hereditary cancer in clinical practice vol. 19,1 (2021): 14. doi: https://doi.org/10.1186/s13053-021-00173-2
Gorodnova TV, Sokolenko AP, Kotiv KB, Sokolova TN, Ivantsov AO, Guseynov KD, Nekrasova EA, Smirnova OA, Berlev IV, Imyanitov EN. Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin. Hered Cancer Clin Pract. 2021 Feb 03;19(1):14. doi: 10.1186/s13053-021-00173-2. PMID: 33536037; PMCID: PMC7860626.
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Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Cancer letters

Imyanitov EN, Iyevleva AG.
PMID: 34808283
Cancer Lett. 2022 Feb 01;526:41-52. doi: 10.1016/j.canlet.2021.11.021. Epub 2021 Nov 20.

Chemotherapy constitutes the backbone of cancer treatment. Several predictive assays assist personalized administration of cytotoxic drugs and are recommended for use in a clinical setting. The deficiency of DNA repair by homologous recombination (HRD), which is caused by inactivation...

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Imyanitov EN, Iyevleva AG. Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer Lett. 2021;526:41-52doi: 10.1016/j.canlet.2021.11.021.
Imyanitov, E. N., & Iyevleva, A. G. (2022). Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer letters, 52641-52. https://doi.org/10.1016/j.canlet.2021.11.021
Imyanitov, Evgeny N, and Iyevleva, Aglaya G. "Molecular tests for prediction of tumor sensitivity to cytotoxic drugs." Cancer letters vol. 526 (2022): 41-52. doi: https://doi.org/10.1016/j.canlet.2021.11.021
Imyanitov EN, Iyevleva AG. Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer Lett. 2022 Feb 01;526:41-52. doi: 10.1016/j.canlet.2021.11.021. Epub 2021 Nov 20. PMID: 34808283.
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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Nature communications

Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
PMID: 33990587
Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.

Cite
Coignard J, Lush M, Beesley J, et al. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021;12(1):2986doi: 10.1038/s41467-021-23162-4.
Coignard, J., Lush, M., Beesley, J., O'Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Augustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Białkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldés, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C. L., Collée, J. M., Conroy, D. M., Czene, K., Daly, M. B., Devilee, P., Diez, O., Ding, Y. C., Domchek, S. M., Dörk, T., Dos-Santos-Silva, I., Dunning, A. M., Dwek, M., Eccles, D. M., Eliassen, A. H., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gago-Dominguez, M., Gapstur, S. M., Garber, J., Garcia-Barberan, V., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Gehrig, A., Georgoulias, V., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hart, S. N., He, W., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Horcasitas, D. J., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Jager, A., Jakubowska, A., James, P. A., Jensen, U. B., John, E. M., Jones, M. E., Kaaks, R., Kapoor, P. M., Karlan, B. Y., Keeman, R., Khusnutdinova, E., Kiiski, J. I., Ko, Y. D., Kosma, V. M., Kraft, P., Kurian, A. W., Laitman, Y., Lambrechts, D., Le Marchand, L., Lester, J., Lesueur, F., Lindstrom, T., Lopez-Fernández, A., Loud, J. T., Luccarini, C., Mannermaa, A., Manoukian, S., Margolin, S., Martens, J. W. M., Mebirouk, N., Meindl, A., Miller, A., Milne, R. L., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nielsen, F. C., O'Brien, K. M., Olopade, O. I., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peshkin, B., Peterlongo, P., Peto, J., Pharoah, P. D. P., Phillips, K. A., Polley, E. C., Poppe, B., Presneau, N., Pujana, M. A., Punie, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rennert, H. S., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sandler, D. P., Santella, R., Scheuner, M. T., Schmidt, M. K., Schmidt, G., Scott, C., Sharma, P., Soucy, P., Southey, M. C., Spinelli, J. J., Steinsnyder, Z., Stone, J., Stoppa-Lyonnet, D., Swerdlow, A., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Terry, M. B., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Trainer, A. H., Truong, T., Tung, N., Vachon, C. M., Vega, A., Vijai, J., Wang, Q., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wolk, A., Yadav, S., Yang, X. R., Yannoukakos, D., Zheng, W., Ziogas, A., Zorn, K. K., Park, S. K., Thomassen, M., Offit, K., Schmutzler, R. K., Couch, F. J., Simard, J., Chenevix-Trench, G., Easton, D. F., Andrieu, N., & Antoniou, A. C. (2021). Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature communications, 12(1), 2986. https://doi.org/10.1038/s41467-021-23162-4
Coignard, Juliette, et al. "Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers." Nature communications vol. 12,1 (2021): 2986. doi: https://doi.org/10.1038/s41467-021-23162-4
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4. PMID: 33990587; PMCID: PMC8121813.
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Molecular testing for colorectal cancer: Clinical applications.

World journal of gastrointestinal oncology

Imyanitov E, Kuligina E.
PMID: 34721767
World J Gastrointest Oncol. 2021 Oct 15;13(10):1288-1301. doi: 10.4251/wjgo.v13.i10.1288.

Molecular genetic analysis is an integral part of colorectal cancer (CRC) management. The choice of systemic therapy for CRC is largely based on the results of tumor molecular testing. Evaluation of the

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Imyanitov E, Kuligina E. Molecular testing for colorectal cancer: Clinical applications. World J Gastrointest Oncol. 2021;13(10):1288-1301doi: 10.4251/wjgo.v13.i10.1288.
Imyanitov, E., & Kuligina, E. (2021). Molecular testing for colorectal cancer: Clinical applications. World journal of gastrointestinal oncology, 13(10), 1288-1301. https://doi.org/10.4251/wjgo.v13.i10.1288
Imyanitov, Evgeny, and Kuligina, Ekaterina. "Molecular testing for colorectal cancer: Clinical applications." World journal of gastrointestinal oncology vol. 13,10 (2021): 1288-1301. doi: https://doi.org/10.4251/wjgo.v13.i10.1288
Imyanitov E, Kuligina E. Molecular testing for colorectal cancer: Clinical applications. World J Gastrointest Oncol. 2021 Oct 15;13(10):1288-1301. doi: 10.4251/wjgo.v13.i10.1288. PMID: 34721767; PMCID: PMC8529925.
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Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.

Human mutation

Rad A, Schade-Mann T, Gamerdinger P, Yanus GA, Schulte B, Müller M, Imyanitov EN, Biskup S, Löwenheim H, Tropitzsch A, Vona B.
PMID: 33169910
Hum Mutat. 2021 Jan;42(1):25-30. doi: 10.1002/humu.24136. Epub 2020 Nov 11.

Alpha-chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical spectrum is lacking, as...

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Rad A, Schade-Mann T, Gamerdinger P, et al. Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Hum Mutat. 2020;42(1):25-30doi: 10.1002/humu.24136.
Rad, A., Schade-Mann, T., Gamerdinger, P., Yanus, G. A., Schulte, B., Müller, M., Imyanitov, E. N., Biskup, S., Löwenheim, H., Tropitzsch, A., & Vona, B. (2021). Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Human mutation, 42(1), 25-30. https://doi.org/10.1002/humu.24136
Rad, Aboulfazl, et al. "Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus." Human mutation vol. 42,1 (2021): 25-30. doi: https://doi.org/10.1002/humu.24136
Rad A, Schade-Mann T, Gamerdinger P, Yanus GA, Schulte B, Müller M, Imyanitov EN, Biskup S, Löwenheim H, Tropitzsch A, Vona B. Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Hum Mutat. 2021 Jan;42(1):25-30. doi: 10.1002/humu.24136. Epub 2020 Nov 11. PMID: 33169910.
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Molecular tests for prediction of tumor sensitivity to cytotoxic drugs.

Cancer letters

Imyanitov EN, Iyevleva AG.
PMID: 34808283
Cancer Lett. 2021 Nov 20;526:41-52. doi: 10.1016/j.canlet.2021.11.021. Epub 2021 Nov 20.

Chemotherapy constitutes the backbone of cancer treatment. Several predictive assays assist personalized administration of cytotoxic drugs and are recommended for use in a clinical setting. The deficiency of DNA repair by homologous recombination (HRD), which is caused by inactivation...

Cite
Imyanitov EN, Iyevleva AG. Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer Lett. 2021;526:41-52doi: 10.1016/j.canlet.2021.11.021.
Imyanitov, E. N., & Iyevleva, A. G. (2021). Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer letters, 52641-52. https://doi.org/10.1016/j.canlet.2021.11.021
Imyanitov, Evgeny N, and Iyevleva, Aglaya G. "Molecular tests for prediction of tumor sensitivity to cytotoxic drugs." Cancer letters vol. 526 (2021): 41-52. doi: https://doi.org/10.1016/j.canlet.2021.11.021
Imyanitov EN, Iyevleva AG. Molecular tests for prediction of tumor sensitivity to cytotoxic drugs. Cancer Lett. 2021 Nov 20;526:41-52. doi: 10.1016/j.canlet.2021.11.021. Epub 2021 Nov 20. PMID: 34808283.
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Hereditary breast-ovarian cancer syndrome in Russia.

Acta naturae

Sokolenko AP, Iyevleva AG, Mitiushkina NV, Suspitsin EN, Preobrazhenskaya EV, Kuligina ESh, Voskresenskiy DA, Lobeiko OS, Krylova NY, Gorodnova TV, Buslov KG, Bit-Sava EM, Dolmatov GD, Porhanova NV, Polyakov IS, Abysheva SN, Katanugina AS, Baholdin DV, Yanus GA, Togo AV, Moiseyenko VM, Maximov SY, Semiglazov VF, Imyanitov EN.
PMID: 22649661
Acta Naturae. 2010 Oct;2(4):31-5.

Hereditary breast-ovarian cancer syndrome contributes to as much as 5-7% of breast cancer (BC) and 10-15% of ovarian cancer (OC) incidence. Mutations in the "canonical" genesBRCA1andBRCA2occur in 20-30% of affected pedigrees. In addition toBRCA1andBRCA2 mutations, germ-line lesions in theCHEK2,NBS1,...

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Sokolenko AP, Iyevleva AG, Mitiushkina NV, et al. Hereditary breast-ovarian cancer syndrome in Russia. Acta Naturae. 2010;2(4):31-5
Sokolenko, A. P., Iyevleva, A. G., Mitiushkina, N. V., Suspitsin, E. N., Preobrazhenskaya, E. V., Kuligina, E. S. h., Voskresenskiy, D. A., Lobeiko, O. S., Krylova, N. Y., Gorodnova, T. V., Buslov, K. G., Bit-Sava, E. M., Dolmatov, G. D., Porhanova, N. V., Polyakov, I. S., Abysheva, S. N., Katanugina, A. S., Baholdin, D. V., Yanus, G. A., Togo, A. V., Moiseyenko, V. M., Maximov, S. Y., Semiglazov, V. F., & Imyanitov, E. N. (2010). Hereditary breast-ovarian cancer syndrome in Russia. Acta naturae, 2(4), 31-5.
Sokolenko, A P, et al. "Hereditary breast-ovarian cancer syndrome in Russia." Acta naturae vol. 2,4 (2010): 31-5.
Sokolenko AP, Iyevleva AG, Mitiushkina NV, Suspitsin EN, Preobrazhenskaya EV, Kuligina ESh, Voskresenskiy DA, Lobeiko OS, Krylova NY, Gorodnova TV, Buslov KG, Bit-Sava EM, Dolmatov GD, Porhanova NV, Polyakov IS, Abysheva SN, Katanugina AS, Baholdin DV, Yanus GA, Togo AV, Moiseyenko VM, Maximov SY, Semiglazov VF, Imyanitov EN. Hereditary breast-ovarian cancer syndrome in Russia. Acta Naturae. 2010 Oct;2(4):31-5. PMID: 22649661; PMCID: PMC3347586.
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Drug therapy for hereditary cancers.

Hereditary cancer in clinical practice

Imyanitov EN, Moiseyenko VM.
PMID: 21819606
Hered Cancer Clin Pract. 2011 Aug 06;9(1):5. doi: 10.1186/1897-4287-9-5.

Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR) of DNA, that...

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Imyanitov EN, Moiseyenko VM. Drug therapy for hereditary cancers. Hered Cancer Clin Pract. 2011;9(1):5doi: 10.1186/1897-4287-9-5.
Imyanitov, E. N., & Moiseyenko, V. M. (2011). Drug therapy for hereditary cancers. Hereditary cancer in clinical practice, 9(1), 5. https://doi.org/10.1186/1897-4287-9-5
Imyanitov, Evgeny N, and Moiseyenko, Vladimir M. "Drug therapy for hereditary cancers." Hereditary cancer in clinical practice vol. 9,1 (2011): 5. doi: https://doi.org/10.1186/1897-4287-9-5
Imyanitov EN, Moiseyenko VM. Drug therapy for hereditary cancers. Hered Cancer Clin Pract. 2011 Aug 06;9(1):5. doi: 10.1186/1897-4287-9-5. PMID: 21819606; PMCID: PMC3171323.
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Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing.

Hereditary cancer in clinical practice

Sokolenko AP, Voskresenskiy DA, Iyevleva AG, Bit-Sava EM, Gutkina NI, Anisimenko MS, Yu Sherina N, Mitiushkina NV, Ulibina YM, Yatsuk OS, Zaitseva OA, Suspitsin EN, Togo AV, Pospelov VA, Kovalenko SP, Semiglazov VF, Imyanitov EN.
PMID: 19338681
Hered Cancer Clin Pract. 2009 Jan 26;7(1):2. doi: 10.1186/1897-4287-7-2.

Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited...

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Sokolenko AP, Voskresenskiy DA, Iyevleva AG, et al. Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing. Hered Cancer Clin Pract. 2009;7(1):2doi: 10.1186/1897-4287-7-2.
Sokolenko, A. P., Voskresenskiy, D. A., Iyevleva, A. G., Bit-Sava, E. M., Gutkina, N. I., Anisimenko, M. S., Yu Sherina, N., Mitiushkina, N. V., Ulibina, Y. M., Yatsuk, O. S., Zaitseva, O. A., Suspitsin, E. N., Togo, A. V., Pospelov, V. A., Kovalenko, S. P., Semiglazov, V. F., & Imyanitov, E. N. (2009). Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing. Hereditary cancer in clinical practice, 7(1), 2. https://doi.org/10.1186/1897-4287-7-2
Sokolenko, Anna P, et al. "Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing." Hereditary cancer in clinical practice vol. 7,1 (2009): 2. doi: https://doi.org/10.1186/1897-4287-7-2
Sokolenko AP, Voskresenskiy DA, Iyevleva AG, Bit-Sava EM, Gutkina NI, Anisimenko MS, Yu Sherina N, Mitiushkina NV, Ulibina YM, Yatsuk OS, Zaitseva OA, Suspitsin EN, Togo AV, Pospelov VA, Kovalenko SP, Semiglazov VF, Imyanitov EN. Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing. Hered Cancer Clin Pract. 2009 Jan 26;7(1):2. doi: 10.1186/1897-4287-7-2. PMID: 19338681; PMCID: PMC2653717.
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