Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Lukasz Kuszel"'
Autor:
Dagny Lorent, Rafal Nowak, Carolina Roxo, Elzbieta Lenartowicz, Aleksandra Makarewicz, Bartosz Zaremba, Szymon Nowak, Lukasz Kuszel, Jerzy Stefaniak, Ryszard Kierzek, Pawel Zmora
Publikováno v:
Vaccines, Vol 9, Iss 6, p 541 (2021)
In comparison to other European countries, during the first months of the COVID-19 pandemic, Poland reported a relatively low number of confirmed cases of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections. To estimate the scale
Externí odkaz:
https://doaj.org/article/83b267b0e71a48f9bef8bd8b54a22037
Autor:
Ewelina Bukowska-Olech, Aleksander Jamsheer, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Bartłomiej Budny, Magdalena Pilas-Pomykalska, Magdalena Socha, Lukasz Kuszel, Maciej R Krawczyński
Publikováno v:
American Journal of Medical Genetics Part A. 188:642-647
Aniridia is usually an autosomal dominant, rare disorder characterized by a variable degree of hypoplasia or the absence of iris tissue, with additional ocular abnormalities. Pathogenic variants in the PAX6 gene are associated with aniridia in most p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d1ec07e011c8325551fb24141a3432a
https://doi.org/10.1002/ajmg.a.62559
https://doi.org/10.1002/ajmg.a.62559
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficien
Externí odkaz:
https://doaj.org/article/0e0d5cf622d04179ab39c703254bd1dc
Autor:
Peter Beighton, Malwina Czarny-Ratajczak, Lukasz Kuszel, Kazimierz Kozlowski, Maciej Lukaszewski, Tadeusz Biegański, Krzysztof Bik, Ewa Wasilewska
Publikováno v:
European journal of medical genetics. 60(10)
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb9f848cf3a0ae408d111a081e169c71
https://pubmed.ncbi.nlm.nih.gov/28687525
https://pubmed.ncbi.nlm.nih.gov/28687525
Autor:
Lukasz Kuszel, Joanna Walczak-Sztulpa, Beata Kocyła-Karczmarewicz, Agata Sobierajewicz, Anna Wnuk, Ryszard Grenda, Anna Wawrocka, Jan Zawadzki, Anna Swiader-Lesniak, Anna Latos-Bielenska, Krystyna H. Chrzanowska
Publikováno v:
American journal of medical genetics. Part A. 173(5)
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bfdef9bea51cc2e5016bd7811b904f3
https://pubmed.ncbi.nlm.nih.gov/28332779
https://pubmed.ncbi.nlm.nih.gov/28332779
Autor:
Malwina Czarny-Ratajczak, Kazimierz Kozlowski, Lukasz Kuszel, Ivo Marik, Sarka Petrasova, Olga Hudakova
Publikováno v:
Journal of Applied Genetics
Spondylometaphyseal dysplasias have been classified by Maroteaux and Spranger (1991) as well as by Duetting et al. (1998) based on severity of the changes in the femoral neck and metaphyses as well as vertebral abnormalities. SMD type A4 (SMDTA4) is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9352de09f256e120d98996e065816736
http://europepmc.org/articles/PMC3402664
http://europepmc.org/articles/PMC3402664
Autor:
Lukasz Kuszel, Jerzy Sułko, Kazimierz Kozlowski, Lucjusz Jakubowski, Tadeusz Biegański, Krystyna Chrzanowska, Kryspin Niedzielski, Malwina Czarny-Ratajczak, Dobromila Baranska, Beata Kocyła-Karczmarewicz
Publikováno v:
American Journal of Medical Genetics Part A. :2166-2172
We report on two siblings with a severe neonatal form of spondylometaphyseal dysplasia (SMD). Similar cases have been reported in four publications. Analysis of pedigree data from the original and present families suggests an autosomal recessive mode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::689092641ce519d7c131a0c208bc5d91
https://doi.org/10.1002/ajmg.a.33016
https://doi.org/10.1002/ajmg.a.33016
Publikováno v:
Vaccines, Vol 11, Iss 1, p 118 (2023)
Children are among the best vectors to spread respiratory viruses, including emerging variants of SARS-CoV-2 due to the asymptomatic or relatively mild course of infection and simultaneously high titres of pathogens in the respiratory tract. Therefor
Externí odkaz:
https://doaj.org/article/9b3244c3b9da49f1bf3e40c4d33cdace
Autor:
Szymon P. Nowak, Paweł Zmora, Łukasz Pielok, Łukasz Kuszel, Ryszard Kierzek, Jerzy Stefaniak, Małgorzata Paul
Publikováno v:
Emerging Infectious Diseases, Vol 25, Iss 9, Pp 1772-1773 (2019)
We report a case of Plasmodium knowlesi malaria imported to central Europe from Southeast Asia. Laboratory suspicion of P. knowlesi infection was based on the presence of atypical developmental forms of the parasite in Giemsa-stained microscopic smea
Externí odkaz:
https://doaj.org/article/0690ac81a31b42039787d76576471ec8
Publikováno v:
Journal of Applied Genetics
Aniridia is a rare, bilateral, congenital ocular disorder causing incomplete formation of the iris, usually characterized by iris aplasia/hypoplasia. It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::212ccdfd808bad928bba4cef97dc532a