Výsledky vyhledávání - "Ewa Rutkiewicz"

Akademický článek

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Autor: Ewa Ziętkiewicz, Ewa Rutkiewicz, Andrzej Pogorzelski, Barbara Klimek, Katarzyna Voelkel, Michał Witt

Publikováno v: PLoS ONE, Vol 9, Iss 2, p e89094 (2014)

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane regulator gene (CFTR). In light of the strong allelic heterogeneity and regional specificity of the mutation spectrum, the strategy of molecular diagnostics and counseli

Externí odkaz: https://doaj.org/article/be0cb2b8c56549daa7575f25ee624636

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Akademický článek

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

Autor: Ewa Ziętkiewicz, Zuzanna Bukowy-Bieryłło, Katarzyna Voelkel, Barbara Klimek, Hanna Dmeńska, Andrzej Pogorzelski, Anna Sulikowska-Rowińska, Ewa Rutkiewicz, Michał Witt

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e33667 (2012)

Primary ciliary dyskinesia (PCD) is a rare (1/20,000), multisystem disease with a complex phenotype caused by the impaired motility of cilia/flagella, usually related to ultrastructural defects of these organelles. Mutations in genes encoding radial

Externí odkaz: https://doaj.org/article/9e45d33cd0964d5ab7761dc5932cb338

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Carrier status for 3 most frequentCFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

Autor: Andrzej Pogorzelski, Ewa Rutkiewicz, Ewa Ziętkiewicz, Michał Witt, Urszula Skrzypczak

Publikováno v: Journal of Applied Genetics. 48:85-88

We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of theCFTR mutations that are most frequently found in the Polish population:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a69c73970c0091c5f975662841ce90a1
https://doi.org/10.1007/bf03194662

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Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency

Autor: R. Piotrowski, Agnieszka Sobczyńska-Tomaszewska, Andrzej Pogorzelski, Marian Krawczynski, Ewa Rutkiewicz, Krystyna Strzykala, M. Trawinska-Bartnicka, Karl-Heinz Herzig, Wojciech Cichy, Michał Witt, E. Barra, Dorota Sands, Jarosław Walkowiak

Publikováno v: European Journal of Clinical Investigation. 31:796-801

Background Cystic fibrosis (CF) is the most common cause of exocrine pancreatic insufficiency in childhood. The aim of the present study is to evaluate the correlation between genotype and exocrine pancreatic insufficiency in CF patients. The special

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78d5edb3cbc0c2b925b43cf43a321742
https://doi.org/10.1046/j.1365-2362.2001.00876.x

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Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis

Autor: Jacek Pawlik, Ligarska R, E. Kopytko, Skuza B, Andrzej Pogorzelski, Michał Witt, J. Zebrak, Ewa Rutkiewicz

Publikováno v: Clinical Genetics. 57:56-60

Myocardial necrosis and fibrosis is a rare complication of cystic fibrosis (CF) causing sudden and unexpected death in infancy due to cardiac arrest. Characteristic morphological lesions are recognisable postmortem. The 18 CF patients with this compl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77b88814d0487fb525b012873c7bad2e
https://doi.org/10.1034/j.1399-0004.2000.570108.x

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Cystic fibrosis diagnosed in 36-year old man

Autor: Lucyna, Majka, Michał, Witt, Witold, Młynarczyk, Agata, Nowicka, Ewa, Rutkiewicz

Publikováno v: Pneumonologia i Alergologia Polska. 72:211-213

Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians. There is considerable variability in the clinical presentation and course of cystic fibrosis. Adult patients with mild symptoms are increasingly being diagnosed with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9116b2dda002936ab7f4a5d0793760b0
https://doi.org/10.5603/arm.28149

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Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

Autor: Hanna Dmenska, Ewa Ziętkiewicz, Michał Witt, Barbara Klimek, Katarzyna Voelkel, Zuzanna Bukowy-Bieryllo, Andrzej Pogorzelski, Anna Sulikowska-Rowińska, Ewa Rutkiewicz

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e33667 (2012)
PLoS ONE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e11f242db626777ea0e7b4e04449da
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22448264/?tool=EBI

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Autor: Barbara Nitka, Kinga Humińska, Ewa Ziętkiewicz, Ewa Rutkiewicz, Andrzej Pogorzelski, Zuzanna Bukowy, Hanna Przystałowska, Urszula Skrzypczak, Michal Witt, Katarzyna Voelkel

Publikováno v: Respiratory Research, Vol 11, Iss 1, p 174 (2010)
Respiratory Research

Background Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24996eae23fe238b391c92cc9eeccf9a
https://doi.org/10.1186/1465-9921-11-174

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Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia

Autor: Cui-e Sun, Ewa Rutkiewicz, J. Zebrak, Scott R. Diehl, Michał Witt, Shengbiao Wang, Yue-Fen Wang, Jacek Pawlik

The authors thank the Polish families participating in this study, for their invaluable cooperation; C. Bock, M. Gregg, D. Smith, and A. Schaffer, for assistance with data management and statistical analyses; D. Freas-Lutz, E. Gillanders, and K. Dzie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3492cfde6b036d10cc12a9e38e5f71df
https://europepmc.org/articles/PMC1377735/

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RPGR mutations might cause reduced orientation of respiratory cilia

Autor: Heymut Omran, Wolfgang Berger, James Martin, Heike Olbrich, J Rutland, Niki T. Loges, Katarzyna Voelkel, Ewa Ziętkiewicz, Eric Haan, Zuzanna Bukowy-Bieryllo, Andrzej Pogorzelski, Manfred Fliegauf, Ewa Rutkiewicz, Michal Witt, Lucy Morgan, Maciej Geremek, Mariana Wittmer

Publikováno v: Pediatric Pulmonology, 48(4), 352-363. Wiley

RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein, mutations of which cause 70% of the X-linked retinitis pigmentosa (XLRP) cases. Rarely, RPGR mutations can also cause primary ciliary dyskinesia (PCD), a multisystem d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477765816bddf8ac54180fb69e55c653
https://hdl.handle.net/11370/4417bc8a-7d1f-47a1-be86-a450c6924c84

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