Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jakub, Trizuljak"'
Autor:
Jakub Trizuljak, Paulína Likavcová, Kateřina Staňo Kozubík, Zuzana Vrzalová, Jakub Hynšt, Tereza Deissová, Jiří Štika, Lenka Radová, Marie Prudková, Jana Vaculová, Ivona Blaháková, Petr Smejkal, Jan Kamelander, Šárka Pospíšilová, Michael Doubek
Publikováno v:
Platelets, Vol 35, Iss 1 (2024)
Inherited thrombocytopenias (ITs) encompass a group of rare disorders characterized by diminished platelet count. Recent advancements have unveiled various forms of IT, with inherited thrombocytopenia 2 (THC2) emerging as a prevalent subtype associat
Externí odkaz:
https://doaj.org/article/fc05d1ef48eb442e9b39d2d47ebad9ef
Autor:
Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová, Anna Hrazdirová, Ivona Blaháková, Lenka Radová, Šárka Pospíšilová, Michael Doubek
Publikováno v:
BMC Pulmonary Medicine, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or
Externí odkaz:
https://doaj.org/article/a37ec8dfd4a84189a1b4d5f11cf55d97
Autor:
Jakub Trizuljak, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, Petr Smejkal, Jiřina Zavřelová, Milan Pacejka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek
Publikováno v:
Platelets, Vol 29, Iss 8, Pp 827-833 (2018)
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed
Externí odkaz:
https://doaj.org/article/5689635ac7c94c4a9194ae805cf5ba1d
Autor:
Marketa Bednarikova, Jitka Hausnerova, Lubos Minar, Jakub Trizuljak, Ivona Blahakova, Lucie Ehrlichova, Petra Vinklerova, Michal Felsinger, Kvetoslava Matulova, Petra Ovesna, Vit Weinberger
Publikováno v:
Endometrial cancer.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2481af64427180a64edbed56061d810
https://doi.org/10.1136/ijgc-2022-esgo.303
https://doi.org/10.1136/ijgc-2022-esgo.303
Autor:
Magdalena Skalníková, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, Terézia Kurucová, Hana Svozilová, Jiří Štika, Ivona Blaháková, Barbara Dvořáčková, Marie Prudková, Olga Stehlíková, Michal Šmída, Leoš Křen, Petr Smejkal, Šárka Pospíšilová, Michael Doubek
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 885, p 885 (2022)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653660f1767910825ff737a162317375
https://www.mdpi.com/1422-0067/23/2/885
https://www.mdpi.com/1422-0067/23/2/885
Autor:
Ivona Blaháková, Jiří Mayer, Martina Doubková, Věra Hořínová, Terezie Petruchová, Jakub Trizuljak, Michael Doubek, Zuzana Vrzalová, Šárka Pospíšilová, Jozef Michalka
Publikováno v:
Mol Syndromol
Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and development of mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7346a435f6e82346637cc929586d241
https://pubmed.ncbi.nlm.nih.gov/32655338
https://pubmed.ncbi.nlm.nih.gov/32655338
Autor:
Karla Plevová, Kamila Réblová, Jakub Trizuljak, Tomáš Szotkowski, Michaela Pešová, J. Gumulec, Šárka Pospíšilová, Veronika Fiamoli, Michael Doubek, Lenka Radová, Kateřina Staňo Kozubík, Jiří Mayer, Helena Urbánková
Publikováno v:
International Journal of Hematology. 108:652-657
Here we report a C-terminal RUNX1 mutation in a family with platelet disorder and predisposition to myeloid malignancies. We identified the mutation c.866delG:p.Gly289Aspfs*22 (NM_001754) (RUNX1 b-isoform NM_001001890; c.785delG:p.Gly262Aspfs*22) usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7be9187828409b6493f81b01176faf
https://doi.org/10.1007/s12185-018-2514-3
https://doi.org/10.1007/s12185-018-2514-3
Autor:
Jason Gotlib, Patrizia Bonadonna, Nadja Jäkel, Karoline V. Gleixner, Massimo Triggiani, Lucie Nekvindová, Luca Malcovati, Hanneke Oude Elberink, Akif Selim Yavuz, Mattias Mattsson, Roberta Parente, Andreas Reiter, Nikolas von Bubnoff, Karin Hartmann, Olivier Hermine, Roberta Zanotti, Michel Arock, Anja Illerhaus, Knut Brockow, Alexander Zink, Magdalena Lange, Massimiliano Bonifacio, Hanneke C. Kluin-Nelemans, Michael Doubek, Anna Belloni Fortina, Jiri Mayer, Alex Kilbertus, Khalid Shoumariyeh, Aleksandra Górska, Vito Sabato, Jens Panse, David Fuchs, Hans Hägglund, Wolfgang R. Sperr, Peter Valent, Chiara Elena, Bjorn van Anrooij, Marek Niedoszytko, Mohamad Jawhar, Francesca Caroppo, Cecelia Perkins, Jakub Trizuljak, Agnes Bretterklieber
Publikováno v:
Allergy: European journal of allergy and clinical immunology
Allergy, 75(8), 1927-1938. Wiley-Blackwell
Allergy
Allergy, 75(8), 1927-1938. Wiley-Blackwell
Allergy
Background: In indolent systemic mastocytosis (ISM), several risk factors of disease progression have been identified. Previous studies, performed with limited patient numbers, have also shown that the clinical course in ISM is stable and comparable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026a8a6cac88e43b093cab96a0c17472
https://hdl.handle.net/10067/1711900151162165141
https://hdl.handle.net/10067/1711900151162165141
Autor:
Michael Doubek, Lenka Radová, Zuzana Vrzalová, Anna Hrazdirová, Šárka Pospíšilová, Jakub Trizuljak, Martina Doubková, Ivona Blaháková
Publikováno v:
BMC Pulmonary Medicine
BMC Pulmonary Medicine, Vol 19, Iss 1, Pp 1-6 (2019)
BMC Pulmonary Medicine, Vol 19, Iss 1, Pp 1-6 (2019)
Background Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a929185800a8cfffd2b423d15949e7d4
http://europepmc.org/articles/PMC6794755
http://europepmc.org/articles/PMC6794755
Autor:
Anna Hrazdirová, Martina Doubková, Šárka Pospíšilová, Michael Doubek, Lenka Radová, Ivona Blaháková, Zuzana Vrzalová, Jakub Trizuljak
Publikováno v:
Rare ILD/DPLD.
Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound heterozygous mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc0a2b531c6c1f10e6e15e3a47d43be0
https://doi.org/10.1183/13993003.congress-2019.pa1400
https://doi.org/10.1183/13993003.congress-2019.pa1400