Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Ryszard Slezak"'
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:
Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to
Externí odkaz:
https://doaj.org/article/8f19811c7b1e4d5cbdd6db56f7282c00
Autor:
Rosario López-Rodríguez, Aida Ferreiro-Iglesias, Aurea Lima, Miguel Bernardes, Andrzej Pawlik, Agnieszka Paradowska-Gorycka, Jerzy Świerkot, Ryszard Slezak, Vita Dolžan, Isidoro González-Álvaro, Javier Narváez, Rafael Cáliz, Eva Pérez-Pampín, Antonio Mera-Varela, Laura Vidal-Bralo, José Gorgonio Acuña Ochoa, Carmen Conde, Juan J. Gómez-Reino, Antonio González
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Abstract About 70 genetic studies have already addressed the need of biomarkers to predict the response of patients with rheumatoid arthritis (RA) to methotrexate (MTX) treatment. However, no genetic biomarker has yet been sufficiently validated. Her
Externí odkaz:
https://doaj.org/article/2feae63c8b2a4e138135868ba1a187e3
Autor:
Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing
Externí odkaz:
https://doaj.org/article/96ff13b8f46445d7b4cd9c3890c51824
Publikováno v:
Folia Histochemica et Cytobiologica, Vol 45, Iss Suppl 1, Pp 11-16 (2008)
The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous ab
Externí odkaz:
https://doaj.org/article/47b123d23cf344ebafc656c44119429d
Publikováno v:
Folia Histochemica et Cytobiologica, Vol 45, Iss I, Pp 11-16 (2008)
The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous ab
Externí odkaz:
https://doaj.org/article/1079b8759a3146ad982d1a9bf1af046b
Autor:
Blazej Misiak, Marta Krolik, Anna Kukowka, Anna Lewera, Przemyslaw Leszczynski, Joanna Stankiewicz-Olczyk, Ryszard Slezak
Publikováno v:
International Journal of Endocrinology, Vol 2011 (2011)
Background. Extensive evidence, arising from models of endothelial nitric oxide synthase gene (NOS3)-knockout mice supports the role of endothelial malfunction in the pathogenesis of the metabolic syndrome (MS). Aims. The aim of this study was to eva
Externí odkaz:
https://doaj.org/article/387dc517a34743dbb1645b438dba566d
Autor:
Robert Smigiel, Piotr Gasperowicz, Michal Bloch, Magdalena Klaniewska, Ryszard Slezak, Agata Dzielendziak, Anna Rozensztrauch, Małgorzata Rydzanicz, Rafał Płoski, Dariusz Patkowski, Krystian Toczewski
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
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
Autor:
Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Publikováno v:
Genes, Vol 12, Iss 2014, p 2014 (2021)
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either
Autor:
Robert Smigiel, Rafał Płoski, Ewa Obersztyn, Mateusz Dawidziuk, Monika Bekiesińska-Figatowska, Małgorzata Rydzanicz, Pawel Gawlinski, Ryszard Slezak, Wojciech Wiszniewski, Agnieszka Pollak
Publikováno v:
Genes
Genes, Vol 12, Iss 594, p 594 (2021)
Volume 12
Issue 4
Genes, Vol 12, Iss 594, p 594 (2021)
Volume 12
Issue 4
Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2 and compound he