P754: PRIME EDITING AS A NOVEL TOOL FOR PRECISE CORRECTION OF CAUSAL MUTATIONS IN FANCONI ANAEMIA GROUP A PATIENT-DERIVED CELLS

por Peterkova, Lucie, Racková, Markéta, Svaton, Michael, Riha, Petr, Novotna, Drahuse, Sedlacek, Petr, Sramkova, Lucie, Skvarova, Karolina
Publicado 2023

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn’s disease

por Parackova, Zuzana, Milota, Tomas, Vrabcova, Petra, Smetanova, Jitka, Svaton, Michael, Freiberger, Tomas, Kanderova, Veronika, Sediva, Anna
Publicado 2020

Concurrent TP53 and CDKN2A Gene Aberrations in Newly Diagnosed Mantle Cell Lymphoma Correlate with Chemoresistance and Call for Innovative Upfront Therapy

por Malarikova, Diana, Berkova, Adela, Obr, Ales, Blahovcova, Petra, Svaton, Michael, Forsterova, Kristina, Kriegova, Eva, Prihodova, Eva, Pavlistova, Lenka, Petrackova, Anna, Zemanova, Zuzana, Trneny, Marek, Klener, Pavel
Publicado 2020

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

por Froňková, Eva, Klocperk, Adam, Svatoň, Michael, Nováková, Michaela, Kotrová, Michaela, Kayserová, Jana, Kalina, Tomáš, Keslová, Petra, Votava, Felix, Vinohradská, Hana, Freiberger, Tomáš, Mejstříková, Ester, Trka, Jan, Šedivá, Anna
Publicado 2014

Heterologous Cytomegalovirus and Allo-Reactivity by Shared T Cell Receptor Repertoire in Kidney Transplantation

por Stranavova, Lucia, Pelak, Ondrej, Svaton, Michael, Hruba, Petra, Fronkova, Eva, Slavcev, Antonij, Osickova, Klara, Maluskova, Jana, Hubacek, Petr, Fronek, Jiri, Reinke, Petra, Volk, Hans-Dieter, Kalina, Tomas, Viklicky, Ondrej
Publicado 2019

NGS better discriminates true MRD positivity for the risk stratification of childhood ALL treated on an MRD-based protocol

por Svaton, Michael, Skotnicova, Aneta, Reznickova, Leona, Rennerova, Andrea, Valova, Tatana, Kotrova, Michaela, van der Velden, Vincent H. J., Brüggemann, Monika, Darzentas, Nikos, Langerak, Anton W., Zuna, Jan, Stary, Jan, Trka, Jan, Fronkova, Eva
Publicado 2023

CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID

por Kralickova, Pavlina, Milota, Tomas, Litzman, Jiri, Malkusova, Ivana, Jilek, Dalibor, Petanova, Jitka, Vydlakova, Jana, Zimulova, Alena, Fronkova, Eva, Svaton, Michael, Kanderova, Veronika, Bloomfield, Marketa, Parackova, Zuzana, Klocperk, Adam, Haviger, Jiri, Kalina, Tomas, Sediva, Anna
Publicado 2019

Molecular Basis of Cisplatin Resistance in Testicular Germ Cell Tumors

por Bakardjieva-Mihaylova, Violeta, Skvarova Kramarzova, Karolina, Slamova, Martina, Svaton, Michael, Rejlova, Katerina, Zaliova, Marketa, Dobiasova, Alena, Fiser, Karel, Stuchly, Jan, Grega, Marek, Rosova, Blanka, Zachoval, Roman, Klezl, Petr, Eis, Vaclav, Kindlova, Eva, Buchler, Tomas, Trka, Jan, Boublikova, Ludmila
Publicado 2019

Complex genetic and histopathological study of 15 patient-derived xenografts of aggressive lymphomas

por Jakša, Radek, Karolová, Jana, Svatoň, Michael, Kazantsev, Dmitry, Grajciarová, Martina, Pokorná, Eva, Tonar, Zbyněk, Klánová, Magdalena, Winkowska, Lucie, Maláriková, Diana, Vočková, Petra, Forsterová, Kristina, Renešová, Nicol, Dolníková, Alexandra, Nožičková, Kristýna, Dundr, Pavel, Froňková, Eva, Trněný, Marek, Klener, Pavel
Publicado 2022

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

por Formankova, Renata, Kanderova, Veronika, Rackova, Marketa, Svaton, Michael, Brdicka, Tomas, Riha, Petr, Keslova, Petra, Mejstrikova, Ester, Zaliova, Marketa, Freiberger, Tomas, Grombirikova, Hana, Zemanova, Zuzana, Vlkova, Marcela, Fencl, Filip, Copova, Ivana, Bronsky, Jiri, Jabandziev, Petr, Sedlacek, Petr, Soukalova, Jana, Zapletal, Ondrej, Stary, Jan, Trka, Jan, Kalina, Tomas, Skvarova Kramarzova, Karolina, Hlavackova, Eva, Litzman, Jiri, Fronkova, Eva
Publicado 2019

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

por Kalina, Tomas, Bakardjieva, Marina, Blom, Maartje, Perez-Andres, Martin, Barendregt, Barbara, Kanderová, Veronika, Bonroy, Carolien, Philippé, Jan, Blanco, Elena, Pico-Knijnenburg, Ingrid, Paping, Jitse H. M. P., Wolska-Kuśnierz, Beata, Pac, Malgorzata, Tkazcyk, Jakub, Haerynck, Filomeen, Akar, Himmet Haluk, Formánková, Renata, Freiberger, Tomáš, Svatoň, Michael, Šedivá, Anna, Arriba-Méndez, Sonia, Orfao, Alberto, van Dongen, Jacques J. M., van der Burg, Mirjam
Publicado 2020

Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

por Knecht, Henrik, Reigl, Tomas, Kotrová, Michaela, Appelt, Franziska, Stewart, Peter, Bystry, Vojtech, Krejci, Adam, Grioni, Andrea, Pal, Karol, Stranska, Kamila, Plevova, Karla, Rijntjes, Jos, Songia, Simona, Svatoň, Michael, Froňková, Eva, Bartram, Jack, Scheijen, Blanca, Herrmann, Dietrich, García-Sanz, Ramón, Hancock, Jeremy, Moppett, John, van Dongen, Jacques J. M., Cazzaniga, Giovanni, Davi, Frédéric, Groenen, Patricia J. T. A., Hummel, Michael, Macintyre, Elizabeth A., Stamatopoulos, Kostas, Trka, Jan, Langerak, Anton W., Gonzalez, David, Pott, Christiane, Brüggemann, Monika, Darzentas, Nikos
Publicado 2019

Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NG...

por Brüggemann, Monika, Kotrová, Michaela, Knecht, Henrik, Bartram, Jack, Boudjogrha, Myriam, Bystry, Vojtech, Fazio, Grazia, Froňková, Eva, Giraud, Mathieu, Grioni, Andrea, Hancock, Jeremy, Herrmann, Dietrich, Jiménez, Cristina, Krejci, Adam, Moppett, John, Reigl, Tomas, Salson, Mikael, Scheijen, Blanca, Schwarz, Martin, Songia, Simona, Svaton, Michael, van Dongen, Jacques J. M., Villarese, Patrick, Wakeman, Stephanie, Wright, Gary, Cazzaniga, Giovanni, Davi, Frédéric, García-Sanz, Ramón, Gonzalez, David, Groenen, Patricia J. T. A., Hummel, Michael, Macintyre, Elizabeth A., Stamatopoulos, Kostas, Pott, Christiane, Trka, Jan, Darzentas, Nikos, Langerak, Anton W.
Publicado 2019

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells

por Csomos, Krisztian, Ujhazi, Boglarka, Blazso, Peter, Herrera, Jose L., Tipton, Christopher M., Kawai, Tomoki, Gordon, Sumai, Ellison, Maryssa, Wu, Kevin, Stowell, Matthew, Haynes, Lauren, Cruz, Rachel, Zakota, Bence, Nguyen, Johnny, Altrich, Michelle, Geier, Christoph B., Sharapova, Svetlana, Dasso, Joseph F., Leiding, Jennifer W., Smith, Grace, Al-Herz, Waleed, de Barros Dorna, Mayra, Fadugba, Olajumoke, Fronkova, Eva, Kanderova, Veronika, Svaton, Michael, Henrickson, Sarah E., Hernandez, Joseph D., Kuijpers, Taco, Kandilarova, Snezhina Mihailova, Naumova, Elizaveta, Milota, Tomas, Sediva, Anna, Moshous, Despina, Neven, Benedicte, Saco, Tara, Sargur, Ravishankar, Savic, Sinisa, Sleasman, John, Sunkersett, Gauri, Ward, Brant R., Komatsu, Masanobu, Pittaluga, Stefania, Kumanovics, Attila, Butte, Manish J., Cancro, Michael P., Pillai, Shiv, Meffre, Eric, Notarangelo, Luigi D., Walter, Jolan E.
Publicado 2022