Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

by Svetlana O. Sharapova, Olga E. Pashchenko, Anastasiia V. Bondarenko, Svetlana S. Vakhlyarskaya, Tatjana Prokofjeva, Alina S. Fedorova, Ihor Savchak, Yuliya Mareika, Timur T. Valiev, Alexander Popa, Irina A. Tuzankina, Elena V. Vlasova, Inga S. Sakovich, Ekaterina A. Polyakova, Natalia V. Rumiantseva, Irina V. Naumchik, Svetlana A. Kulyova, Svetlana N. Aleshkevich, Elena I. Golovataya, Nina V. Minakovskaya, Mikhail V. Belevtsev, Elena A. Latysheva, Tatiana V. Latysheva, Alexander G. Beznoshchenko, Hayane Akopyan, Halyna Makukh, Olena Kozlova, Dzmitry S. Varabyou, Mark Ballow, Mei-Sing Ong, Jolan E. Walter, Irina V. Kondratenko, Larysa V. Kostyuchenko, Olga V. Aleinikova
Published 2021-01-01

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

by Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Freiberger, Tomáš Milota, Tomáš Milota, Renata Formánková, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Maciej Siedlar, Tadej Avčin, Tadej Avčin, Gašper Markelj, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Hana Grombirikova, Maruša Debeljak, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Anna Šedivá, Mirjam van der Burg, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Published 2020-06-01

Primary Immunodeficiencies in Russia: Data From the National Registry

by Anna A. Mukhina, Natalya B. Kuzmenko, Yulia A. Rodina, Irina V. Kondratenko, Andrei A. Bologov, Tatiana V. Latysheva, Andrei P. Prodeus, Alexander N. Pampura, Dmitrii N. Balashov, Natalya I. Ilyina, Elena A. Latysheva, Ekaterina A. Deordieva, Oksana A. Shvets, Elena V. Deripapa, Irina N. Abramova, Olga E. Pashenko, Svetlana S. Vahlyarskaya, Natalya V. Zinovyeva, Sergei B. Zimin, Elena V. Skorobogatova, Elena B. Machneva, Daria S. Fomina, Daria S. Fomina, Maria G. Ipatova, Ludmila Yu. Barycheva, Ludmila Yu. Barycheva, Ludmila S. Khachirova, Irina A. Tuzankina, Michail A. Bolkov, Natalya V. Shakhova, Elena M. Kamaltynova, Elena M. Kamaltynova, Elena M. Kamaltynova, Farida I. Sibgatullina, Marina N. Guseva, Marina N. Guseva, Raisa N. Kuznetsova, Anzhelika M. Milichkina, Areg A. Totolian, Natalia M. Kalinina, Evgenia A. Goltsman, Ekatherina I. Sulima, Anastasia Yu. Kutlyanceva, Anna A. Moiseeva, Anna L. Khoreva, Zoya Nesterenko, Elena V. Tymofeeva, A. Ermakova, Dilyara D. Proligina, Linara R. Kalmetieva, Gulshat A. Davletbaieva, Irina A. Mirsayapova, Olga A. Richkova, Ksenia P. Kuzmicheva, Maria A. Grakhova, Natalya B. Yudina, Ekaterina A. Orlova, Olga S. Selezneva, Svetlana G. Piskunova, Tatiana V. Samofalova, Tatiana V. Bukina, Anna D. Pechkurova, N. Migacheva, A. Zhestkov, Elena V. Barmina, Natalya A. Parfenova, Svetlana N. Isakova, Elena V. Averina, Irina V. Sazonova, Svetlana Yu. Starikova, Tatiana V. Shilova, Tatiana V. Asekretova, Roman N. Suprun, Elena I. Kleshchenko, Vladimir V. Lebedev, Elena V. Demikhova, Valerii G. Demikhov, Veronica A. Kalinkina, Alla V. Gorenkova, Svetlana N. Duryagina, Tatiana B. Pavlova, Vera M. Shinkareva, Irina V. Smoleva, Tatiana P. Aleksandrova, Zema V. Bambaeva, Marina A. Philippova, Elena M. Gracheva, Galina I. Tcyvkina, Alexey V. Efremenkov, D. Mashkovskaya, Irina V. Yarovaya, Valentina A. Alekseenko, Ivan V. Fisyun, Galina V. Molokova, Ekatherina V. Troitskya, Ludmila I. Piatkina, Elena V. Vlasova, O. Ukhanova, O. Ukhanova, Ekaterina G. Chernishova, M. Vasilieva, Olga M. Laba, E. Volodina, Ekaterina V. Safonova, Kirill A. Voronin, Maria V. Gurkina, Alexander G. Rumyantsev, Galina A. Novichkova, Anna Yu. Shcherbina
Published 2020-08-01