GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS

Autor: Lili Kotmayer, Emilia Kozyra, Maximilian Kaiser, Michael Dworzak, Barbara De Moerloose, Jan Starý, Henrik Hasle, Kirsi Jahnukainen, Sophia Polychronopoulou, Krisztián Kállay, Owen Smith, Shlomit Barzilai, Riccardo Masetti, Jochen Buechner, Marek Ussowicz, Paula Kjollerstrom, Ivana Boďová, Marko Kavcic, Albert Catala, Dominik Turkiewicz, Markus Schmugge, Valérie De Haas, Rebecca Voss, Anna Bigas, Damia Romero, Csaba Bödör, Miriam Erlacher, Alessandra Giorgetti, Charlotte Niemeyer, Marcin Wlodarski

Publikováno v: EJC Paediatric Oncology, Vol 2, Iss , Pp 100051- (2023)

Externí odkaz: https://doaj.org/article/c011b85abdfb4cc3bb60ff8c8419145c

Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report

Autor: Máté Horváth, Orsolya Horváth, Csaba Kassa, Gabriella Kertész, Vera Goda, Lidia Hau, Anita Stréhn, Krisztián Kállay, Gergely Kriván

Publikováno v: Children, Vol 10, Iss 4, p 675 (2023)

Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. Haematopoietic stem cell transplantation (HSCT) is the first-line treatment for ARO. Tradi

Externí odkaz: https://doaj.org/article/dfd3ddcb48744a5390c7d6fd8106db2f

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Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia

Autor: Szilvia Krizsán, Borbála Péterffy, Bálint Egyed, Tibor Nagy, Endre Sebestyén, Lajos László Hegyi, Zsuzsanna Jakab, Dániel J. Erdélyi, Judit Müller, György Péter, Krisztina Csanádi, Krisztián Kállay, Gergely Kriván, Gábor Barna, Gábor Bedics, Irén Haltrich, Gábor Ottóffy, Katalin Csernus, Ágnes Vojcek, Lilla Györgyi Tiszlavicz, Krisztina Mita Gábor, Ágnes Kelemen, Péter Hauser, Zsuzsanna Gaál, István Szegedi, Anikó Ujfalusi, Béla Kajtár, Csongor Kiss, András Matolcsy, Botond Tímár, Gábor Kovács, Donát Alpár, Csaba Bödör

Publikováno v: The Journal of Molecular Diagnostics.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fec6478a430afe2e236cab75b5d8cb9e
https://doi.org/10.1016/j.jmoldx.2023.04.004

Safety and efficacy of rivaroxaban in pediatric cerebral venous thrombosis (EINSTEIN-Jr CVT)

Autor: Susan Baird, Fanny Bajolle, Sebastian Grunt, Olga Lvova, Anthonie W. A. Lensing, Mayte Sánchez van Kammen, William T. Smith, Paolo Simioni, Madhurima Majumder, Christoph Male, Jeanette Payne, Tina T. Biss, Michelle Morales Soto, Veerle Labarque, Elizabeth Chalmers, Joseph Palumbo, Jonathan M. Coutinho, Damien Bonnet, Amparo Santamaría, Riten Kumar, An Van Damme, Ida Martinelli, Kamar Godder, Sanjay J. Shah, Paul Monagle, Paola Saracco, Dagmar Kubitza, Philip Connor, Martin H. Prins, Rukhmi Bhat, Krisztián Kállay, Akos F. Pap, Scott D. Berkowitz, Kerry Hege, Jayashree Motwani, Helene L. Hooimeijer

Publikováno v: Blood advances, 4(24), 6250-6258. The American Society of Hematology
Blood Advances
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Blood advances, 4(24), 6250-6258. American Society of Hematology
Blood Adv.
Blood Adv

Anticoagulant treatment of pediatric cerebral venous thrombosis has not been evaluated in randomized trials. We evaluated the safety and efficacy of rivaroxaban and standard anticoagulants in the predefined subgroup of children with cerebral venous t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be998519446ecd55ada264f5dbeff705
https://doi.org/10.1182/bloodadvances.2020003244