Search Results - "Suspitsin, Evgeny N."

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population by Yanus, Grigoriy A, Suspitsin, Evgeny N, Imyanitov, Evgeny N

“…There are more than 260 million people of Slavic descent worldwide, who reside mainly in Eastern Europe but also represent a noticeable share of the population…”
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Bardet-Biedl Syndrome by Suspitsin, Evgeny N., Imyanitov, Evgeny N.

“…Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary…”
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High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation by Gorodnova, Tatiana V, Sokolenko, Anna P, Ivantsov, Alexandr O, Iyevleva, Aglaya G, Suspitsin, Evgeny N, Aleksakhina, Svetlana N, Yanus, Grigory A, Togo, Alexandr V, Maximov, Sergey Ya, Imyanitov, Evgeny N

“…Highlights • Ovarian carcinomas arising in BRCA1/2 germ-line mutation carriers show high sensitivity to platinum-based neoadjuvant therapy. • Chemonaive…”
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Detection of BRCA1 gross rearrangements by droplet digital PCR by Preobrazhenskaya, Elena V., Bizin, Ilya V., Kuligina, Ekatherina Sh, Shleykina, Alla Yu, Suspitsin, Evgeny N., Zaytseva, Olga A., Anisimova, Elena I., Laptiev, Sergey A., Gorodnova, Tatiana V., Belyaev, Alexey M., Imyanitov, Evgeny N., Sokolenko, Anna P.

“…Purpose Large genomic rearrangements (LGRs) constitute a significant share of pathogenic BRCA1 mutations. Multiplex ligation-dependent probe amplification…”
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Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report by Raupov, Rinat K., Suspitsin, Evgeny N., Imelbaev, Artur I., Kostik, Mikhail M.

“…There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin…”
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IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus by Raupov, Rinat K, Suspitsin, Evgeny N, Kalashnikova, Elvira M, Sorokina, Lubov S, Burtseva, Tatiana E, Argunova, Vera M, Mulkidzhan, Rimma S, Tumakova, Anastasia V, Kostik, Mikhail M

“…Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early…”
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The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience by Kostik, Mikhail M, Raupov, Rinat K, Suspitsin, Evgeny N, Isupova, Eugenia A, Gaidar, Ekaterina V, Gabrusskaya, Tatyana V, Kaneva, Maria A, Snegireva, Ludmila S, Likhacheva, Tatyana S, Miulkidzhan, Rimma S, Kosmin, Artem V, Tumakova, Anastasia V, Masalova, Vera V, Dubko, Margarita F, Kalashnikova, Olga V, Aksentijevich, Ivona, Chasnyk, Vyacheslav G

“…JAK-inhibitors are small molecules blocking the JAK-STAT pathway that have proven effective in the treatment of different immune-mediated diseases in adults…”
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Standard and increased canakinumab dosing to quiet macrophage activation syndrome in children with systemic juvenile idiopathic arthritis by Kostik, Mikhail M., Isupova, Eugenia A., Belozerov, Konstantin, Likhacheva, Tatyana S., Suspitsin, Evgeny N., Raupov, Rinat, Masalova, Vera V., Chikova, Irina A., Dubko, Margarita F., Kalashnikova, Olga V., Chasnyk, Vyacheslav G., Cron, Randy Q.

“…Objective Macrophage activation syndrome (MAS) is a life-threatening, potentially fatal condition associated with systemic juvenile idiopathic arthritis…”
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Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine by Sokolova, Tatiana N, Breder, Valeriy V, Shumskaya, Irina S, Suspitsin, Evgeny N, Aleksakhina, Svetlana N, Yanus, Grigoriy A, Tiurin, Vladislav I, Ivantsov, Alexandr O, Vona, Barbara, Raskin, Grigoriy A, Gamajunov, Sergey V, Imyanitov, Evgeny N

“…Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists. We describe…”
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Hereditary Conditions Associated with Elevated Cancer Risk in Childhood by Suspitsin, Evgeny N., Imyanitov, Evgeny N.

“…Widespread use of the next-generation sequencing (NGS) technologies revealed that a significant percentage of tumors in children develop as a part of monogenic…”
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Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier by Suspitsin, Evgeny N., Sokolenko, Anna P., Voskresenskiy, Dmitry A., Ivantsov, Alexandr O., Shelehova, Kseniya V., Klimashevskiy, Valery F., Matsko, Dmitry E., Semiglazov, Vladimir F., Imyanitov, Evgeny N.

“…This case report describes a 35-year-old woman who was diagnosed with mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast…”
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Evidence against involvement of p53 polymorphism in breast cancer predisposition by Suspitsin, Evgeny N., Buslov, Konstantin G., Grigoriev, Maxim Yu, Ishutkina, Julia G., Ulibina, Julia M., Gorodinskaya, Victoria M., Pozharisski, Kazymir M., Berstein, Lev M., Hanson, Kaido P., Togo, Alexandr V., Imyanitov, Evgeny N.

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Identification of novel hereditary cancer genes by whole exome sequencing by Sokolenko, Anna P, Suspitsin, Evgeny N, Kuligina, Ekatherina Sh, Bizin, Ilya V, Frishman, Dmitrij, Imyanitov, Evgeny N

“…Highlights • Whole exome sequencing (WES) is a powerful tool for medical genetic research. • Novel hereditary cancer genes identified by WES are systematically…”
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Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders by Kostik, Mikhail M., Suspitsin, Evgeny N., Guseva, Marina N., Levina, Anastasia S., Kazantseva, Anastasia Y., Sokolenko, Anna P., Imyanitov, Evgeny N.

“…NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few…”
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Concordance of allelic imbalance profiles in synchronous and metachronous bilateral breast carcinomas by Imyanitov, Evgeny N., Suspitsin, Evgeny N., Grigoriev, Maxim Yu, Togo, Alexandr V., Kuligina, Ekatherina Sh, Belogubova, Evgeniya V., Pozharisski, Kazymir M., Turkevich, Elena A., Rodriquez, Carmen, Cornelisse, Cees J., Hanson, Kaido P., Theillet, Charles

“…Bilateral breast cancer (biBC) is a common form of breast cancer; however, it has not been subjected to systematic comparative genetic studies. We allelotyped…”
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Gene rearrangements in consecutive series of pediatric inflammatory myofibroblastic tumors by Preobrazhenskaya, Elena V., Iyevleva, Aglaya G., Suleymanova, Amina M., Tiurin, Vladislav I., Mitiushkina, Natalia V., Bizin, Ilya V., Ivanstov, Alexandr O., Gorustovich, Olga A., Shelekhova, Kseniya V., Kachanov, Denis Y., Varfolomeeva, Svetlana R., Roschin, Vitaliy Y., Kazakova, Anna N., Litvinov, Dmitriy V., Shamanskaya, Tatiana V., Savelov, Nikita A., Suspitsin, Evgeny N., Imyanitov, Evgeny N.

“…Background Inflammatory myofibroblastic tumors (IMTs) are exceptionally rare neoplasms, which are often driven by rearranged tyrosine kinases. Methods This…”
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Paired distribution of molecular subtypes in bilateral breast carcinomas by Russnes, Hege G, Kuligina, Ekatherina Sh, Suspitsin, Evgeny N, Voskresenskiy, Dmitry A, Jordanova, Ekaterina S, Cornelisse, Cees J, Borresen-Dale, Anne-Lise, Imyanitov, Evgeny N

“…The last decade has revealed fundamental new insight into the existence of intrinsic molecular subclasses of breast carcinomas. By using immunostaining on…”
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Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity by Suspitsin, Evgeny N., Guseva, Marina N., Kostik, Mikhail M., Sokolenko, Anna P., Skripchenko, Nataliya V., Levina, Anastasia S., Goleva, Olga V., Dubko, Margarita F., Tumakova, Anastasia V., Makhova, Maria A., Lyazina, Lidiya V., Bizin, Ilya V., Sokolova, Natalia E., Gabrusskaya, Tatiana V., Ditkovskaya, Liliya V., Kozlova, Olga P., Vahliarskaya, Svetlana S., Kondratenko, Irina V., Imyanitov, Evgeny N.

“…Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected…”
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Microsatellite instability analysis of bilateral breast tumors suggests treatment-related origin of some contralateral malignancies by KULIGINA, Ekatherina Sh, GRIGORIEV, Maxim Yu, SUSPITSIN, Evgeny N, BUSLOV, Konstantin G, ZAITSEVA, Olga A, YATSUK, Olga S, LAZAREVA, Yulia R, TOGO, Alexandr V, IMYANITOV, Evgeny N

“…High-frequency microsatellite instability (MSI-H) occurs frequently in colorectal cancers and some other tumor types, but is very uncommon in breast cancer. In…”
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Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39 by Kuligina, Ekaterina S., Sokolenko, Anna P., Bizin, Ilya V., Romanko, Alexandr A., Zagorodnev, Kirill A., Anisimova, Maria O., Krylova, Daria D., Anisimova, Elena I., Mantseva, Maria A., Varma, Ashok K., Hasan, Syed K., Ni, Valeria I., Koloskov, Andrey V., Suspitsin, Evgeny N., Venina, Aigul R., Aleksakhina, Svetlana N., Sokolova, Tatiana N., Milanović, Ana Marija, Schürmann, Peter, Prokofyeva, Darya S., Bermisheva, Marina A., Khusnutdinova, Elza K., Bogdanova, Natalia, Dörk, Thilo, Imyanitov, Evgeny N.

“…Purpose Germline variants in known breast cancer (BC) predisposing genes explain less than half of hereditary BC cases. This study aimed to identify missing…”
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