Zobrazeno 1 - 10
of 246
pro vyhledávání: '"Małgorzata Rydzanicz"'
Autor:
Karol Perlejewski, Marek Radkowski, Agnieszka Pawełczyk, Małgorzata Rydzanicz, Tomasz Dzieciątkowski, Michał Makowiecki, Marcin Paciorek, Renata Welc-Falęciak, Andrzej Horban, Tomasz Laskus
Publikováno v:
Ticks and Tick-Borne Diseases, Vol 14, Iss 6, Pp 102253- (2023)
Patients with Lyme neuroborreliosis (LNB) are rarely tested for the presence of neurovirulent viruses other than tick-borne encephalitis virus (TBEV); however, such coinfections could be of clinical importance. The aim of the study was to search for
Externí odkaz:
https://doaj.org/article/e068cc597d524cdda775c39ea93e409f
Autor:
Marcelina M. Jaworska, Paulina Pecyna, Katarzyna Jaskiewicz, Małgorzata Rydzanicz, Malgorzata Kaluzna, Krzysztof Pawlaczyk, Rafal Ploski, Dorota M. Nowak-Malczewska, Justyna A. Karolak, Marzena Gajecka
Publikováno v:
Frontiers in Microbiology, Vol 14 (2023)
IntroductionThe development of molecular biology methods and their application in microbial research allowed the detection of many new pathogens that cause urinary tract infections (UTIs). Despite the advances of using new research techniques, the et
Externí odkaz:
https://doaj.org/article/6d2118f478f5473d87c294ed61652dd1
Autor:
Joanna Kulikowska, Anna Jakubiuk-Tomaszuk, Małgorzata Rydzanicz, Rafał Płoski, Jan Kochanowicz, Alina Kulakowska, Katarzyna Kapica-Topczewska
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FAN
Externí odkaz:
https://doaj.org/article/45a020790e32472b8fb8aae7e2c6bbd3
Autor:
Katarzyna Bzdęga, Anna Kutkowska-Kaźmierczak, Gail H. Deutsch, Izabela Plaskota, Marta Smyk, Magdalena Niemiec, Artur Barczyk, Ewa Obersztyn, Jan Modzelewski, Iwona Lipska, Paweł Stankiewicz, Marzena Gajecka, Małgorzata Rydzanicz, Rafał Płoski, Tomasz Szczapa, Justyna A. Karolak
Publikováno v:
Genes, Vol 14, Iss 3, p 563 (2023)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hyper
Externí odkaz:
https://doaj.org/article/b62d4062e6ea42ff95ace9a4a03ee7d1
Autor:
Magdalena Badura‐Stronka, Robert Śmigiel, Karolina Rutkowska, Krystyna Szymańska, Adam Sebastian Hirschfeld, Michał Monkiewicz, Joanna Kosińska, Ewelina Wolańska, Małgorzata Rydzanicz, Anna Latos‐Bieleńska, Rafał Płoski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the NHLRC2 gene (*618277) have been identified. First reported patients p
Externí odkaz:
https://doaj.org/article/c9fa25de2e224657992f3ccefbe46aad
Autor:
Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsu
Externí odkaz:
https://doaj.org/article/5c17636ad65c4694a5c87f7f90539229
Autor:
Marta Podralska, Agnieszka Dzikiewicz-Krawczyk, Maria Mosor, Magdalena Żurawek, Katarzyna Iżykowska, Ryszard Słomski, Małgorzata Rydzanicz, Piotr Gabryel, Wojciech Dyszkiewicz, Iwona Ziółkowska-Suchanek
Publikováno v:
Archives of Medical Science, Vol 17, Iss 5, Pp 1158-1163 (2020)
Introduction The inactivation of both alleles of the ATM gene leads to ataxia-telangiectasia syndrome, whereas carriers of monoallelic mutations in the ATM gene are associated with increased risk of different types of cancer. Three substitutions in t
Externí odkaz:
https://doaj.org/article/7444f0ee3d514a7bb0224620955f3185
Autor:
Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clini
Externí odkaz:
https://doaj.org/article/07599e65658f4dd69c1574bdc7f50bd8
Autor:
Aleksander Salomon-Perzyński, Joanna Barankiewicz, Marcin Machnicki, Irena Misiewicz-Krzemińska, Michał Pawlak, Sylwia Radomska, Agnieszka Krzywdzińska, Aleksandra Bluszcz, Piotr Stawiński, Małgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Górny, Tomasz Szpila, Bartosz Puła, Sebastian Grosicki, Tomasz Stokłosa, Rafał Płoski, Ewa Lech-Marańda, Jana Jakubikova, Krzysztof Jamroziak
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1674 (2022)
Clonal evolution drives treatment failure in multiple myeloma (MM). Here, we used a custom 372-gene panel to track genetic changes occurring during MM progression at different stages of the disease. A tumor-only targeted next-generation DNA sequencin
Externí odkaz:
https://doaj.org/article/157b567d61334d2ca4fc78ec78d72b72
Autor:
Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Publikováno v:
Genes, Vol 13, Iss 8, p 1339 (2022)
Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause diff
Externí odkaz:
https://doaj.org/article/f0a77b79386243bcb1fbddf27f08881a