Dmenska H - Search Results

1

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.

Bukowy-Bieryllo Z, Rabiasz A, Dabrowski M, Pogorzelski A, Wojda A, Dmenska H, Grzela K, Sroczynski J, Witt M, Zietkiewicz E. Bukowy-Bieryllo Z, et al. Among authors: dmenska h. J Med Genet. 2019 Nov;56(11):769-777. doi: 10.1136/jmedgenet-2018-105918. Epub 2019 Jul 31. J Med Genet. 2019. PMID: 31366608

2

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

Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M. Ziętkiewicz E, et al. Among authors: dmenska h. PLoS One. 2012;7(3):e33667. doi: 10.1371/journal.pone.0033667. Epub 2012 Mar 20. PLoS One. 2012. PMID: 22448264 Free PMC article.

3

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

Krawczyński MR, Dmeńska H, Witt M. Krawczyński MR, et al. Among authors: dmenska h. J Appl Genet. 2004;45(1):107-10. J Appl Genet. 2004. PMID: 14960774

4

Validation of Polish-Language Questionnaires for Assessing the Quality of Life of Patients with Primary Ciliary Dyskinesia (PCD-QOL).

Roszak MA, Bręborowicz A, Szczepankiewicz A, Mikoś M, Bukowy-Bieryłło Z, Więckowska B, Behan L, Dmeńska H, Goździk-Spychalska J, Nowicka A, Sapiejka E, Famulska P, Gąsecka E, Pogorzelski A, Wojsyk-Banaszak I. Roszak MA, et al. Among authors: dmenska h. Adv Respir Med. 2024 Jun 24;92(4):254-262. doi: 10.3390/arm92040025. Adv Respir Med. 2024. PMID: 39051187 Free PMC article.

5

Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study.

Pac M, Bielecka T, Grzela K, Komarnicka J, Langfort R, Koltan S, Dabrowska-Leonik N, Bernat-Sitarz K, Pronicki M, Dmenska H, Pituch-Noworolska A, Mikoluc B, Piatosa B, Tkaczyk K, Bernatowska E, Wojsyk-Banaszak I, Krenke K. Pac M, et al. Among authors: dmenska h. Front Immunol. 2020 Aug 27;11:1950. doi: 10.3389/fimmu.2020.01950. eCollection 2020. Front Immunol. 2020. PMID: 32973798 Free PMC article.

6

Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.

Dmeńska H, Pac M, Skomska-Pawliszak M, Pietrucha B, Wolska-Kuśnierz B, Piątosa B, Komarnicka J, Heropolitańska-Pliszka E. Dmeńska H, et al. Adv Respir Med. 2020;88(3):271-277. doi: 10.5603/ARM.2020.0112. Adv Respir Med. 2020. PMID: 32706110 Free article.

7

Organization of Patient Management and Fungal Epidemiology in Cystic Fibrosis.

Schwarz C, Bouchara JP, Buzina W, Chrenkova V, Dmeńska H, de la Pedrosa EGG, Cantón R, Fiscarelli E, Le Govic Y, Kondori N, Matos T, Romanowska E, Ziesing S, Sedlacek L. Schwarz C, et al. Among authors: dmenska h. Mycopathologia. 2018 Feb;183(1):7-19. doi: 10.1007/s11046-017-0205-x. Epub 2017 Nov 3. Mycopathologia. 2018. PMID: 29098487 Free PMC article.

8

Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation.

Piątosa B, Pac M, Siewiera K, Pietrucha B, Klaudel-Dreszler M, Heropolitańska-Pliszka E, Wolska-Kuśnierz B, Dmeńska H, Gregorek H, Sokolnicka I, Rękawek A, Tkaczyk K, Bernatowska E. Piątosa B, et al. Among authors: dmenska h. J Clin Immunol. 2013 May;33(4):731-41. doi: 10.1007/s10875-013-9875-4. Epub 2013 Feb 7. J Clin Immunol. 2013. PMID: 23389235 Free PMC article.

9

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

Norek A, Stremska M, Sobczyńska-Tomaszewska A, Wertheim-Tysarowska K, Dmeńska H, Jurek M. Norek A, et al. Among authors: dmenska h. J Pediatr. 2011 Aug;159(2):343-6.e1. doi: 10.1016/j.jpeds.2011.04.022. Epub 2011 Jun 12. J Pediatr. 2011. PMID: 21663921

10

[The frequency of small colony variants of Staphylococcus aureus strains isolated from children with cystic fibrosis].

Semczuk K, Dzierianowska-Fangrat K, Dmeńska H, Dzierzanowska D. Semczuk K, et al. Among authors: dmenska h. Med Dosw Mikrobiol. 2008;60(4):319-28. Med Dosw Mikrobiol. 2008. PMID: 19382604 Polish.

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