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Items: 39

1.

Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

Szperl M, Kozicka U, Kosiec A, Kukla P, Roszczynko M, Biernacka EK.

J Appl Genet. 2018 Nov;59(4):463-469. doi: 10.1007/s13353-018-0464-3. Epub 2018 Sep 22.

PMID:
30244407
2.

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.

Krych M, Biernacka EK, Ponińska J, Kukla P, Filipecki A, Gajda R, Hasdemir C, Antzelevitch C, Kosiec A, Szperl M, Płoski R, Trusz-Gluza M, Mizia-Stec K, Hoffman P.

J Cardiol. 2017 Nov;70(5):504-510. doi: 10.1016/j.jjcc.2017.01.009. Epub 2017 Mar 21.

3.

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Franaszczyk M, Chmielewski P, Truszkowska G, Stawinski P, Michalak E, Rydzanicz M, Sobieszczanska-Malek M, Pollak A, Szczygieł J, Kosinska J, Parulski A, Stoklosa T, Tarnowska A, Machnicki MM, Foss-Nieradko B, Szperl M, Sioma A, Kusmierczyk M, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT.

PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017.

4.

GROWTH RATE OF PARAGANGLIOMAS RELATED TO GERMLINE MUTATIONS OF THE SDHX GENES.

Michałowska I, Ćwikła JB, Michalski W, Wyrwicz LS, Prejbisz A, Szperl M, Nieć D, Neumann HP, Januszewicz A, Pęczkowska M.

Endocr Pract. 2017 Mar;23(3):342-352. doi: 10.4158/EP161377.OR. Epub 2016 Dec 14.

PMID:
27967220
5.

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

Michałowska I, Lewczuk A, Ćwikła J, Prejbisz A, Swoboda-Rydz U, Furmanek MI, Szperl M, Januszewicz A, Pęczkowska M.

Pol J Radiol. 2016 Oct 31;81:510-518. eCollection 2016.

6.

Mediastinal paragangliomas related to SDHx gene mutations.

Michałowska I, Ćwikła J, Prejbisz A, Kwiatek P, Szperl M, Michalski W, Wyrwicz L, Kuśmierczyk M, Januszewicz A, Maciejczyk A, Roszczynko M, Pęczkowska M.

Kardiochir Torakochirurgia Pol. 2016 Sep;13(3):276-282. Epub 2016 Sep 30.

7.

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma.

Trubicka J, Szperl M, Grajkowska W, Karkucińska-Więckowska A, Tarasińska M, Falana K, Dembowska-Bagińska B, Łastowska M.

Folia Neuropathol. 2016;54(1):23-30.

8.

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R.

J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4.

9.

QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.

Sanecka A, Biernacka EK, Szperl M, Sosna M, Mueller-Malesińska M, Kozicka U, Baranowski R, Kosiec A, Łazarczyk H, Skarżyński H, Hoffman P, Bieganowska K, Piotrowicz R.

Cardiol J. 2016;23(1):34-41. doi: 10.5603/CJ.a2015.0062. Epub 2015 Sep 28.

10.

Combination Testing Using a Single MSH5 Variant alongside HLA Haplotypes Improves the Sensitivity of Predicting Coeliac Disease Risk in the Polish Population.

Paziewska A, Cukrowska B, Dabrowska M, Goryca K, Piatkowska M, Kluska A, Mikula M, Karczmarski J, Oralewska B, Rybak A, Socha J, Balabas A, Zeber-Lubecka N, Ambrozkiewicz F, Konopka E, Trojanowska I, Zagroba M, Szperl M, Ostrowski J.

PLoS One. 2015 Sep 25;10(9):e0139197. doi: 10.1371/journal.pone.0139197. eCollection 2015.

11.

Associations of the eNOS G894T gene polymorphism with target organ damage in children with newly diagnosed primary hypertension.

Śladowska-Kozłowska J, Litwin M, Niemirska A, Wierzbicka A, Roszczynko M, Szperl M.

Pediatr Nephrol. 2015 Dec;30(12):2189-97. doi: 10.1007/s00467-015-3164-9. Epub 2015 Aug 1.

12.

Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.

Jagodzińska M, Szperl M, Ponińska J, Kosiec A, Gajda R, Kukla P, Biernacka EK.

Ann Noninvasive Electrocardiol. 2016 Mar;21(2):189-95. doi: 10.1111/anec.12283. Epub 2015 Jun 24.

PMID:
26109178
13.

A novel life-threatening mutation in long QT2 syndrome.

Biernacka E, Szperl M, Kosiec A, Roszczynko M, Hoffman P.

Kardiol Pol. 2015;73(11):1097-100. doi: 10.5603/KP.a2015.0096. Epub 2015 May 19.

14.

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

Michałowska I, Ćwikła JB, Pęczkowska M, Furmanek MI, Buscombe JR, Michalski W, Prejbisz A, Szperl M, Malinoc A, Moczulski D, Szutkowski Z, Kawecki A, Antoniewicz J, Pęczkowski P, Lewczuk A, Otto M, Cichocki A, Bednarek-Tupikowska G, Kabat M, Janaszek-Sitkowska H, Przybyłowska K, Janas J, Neumann HP, Januszewicz A.

Neuroendocrinology. 2015;101(4):321-30. doi: 10.1159/000381458. Epub 2015 Mar 13.

PMID:
25791839
15.

Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery.

Jóźwik-Plebanek K, Pęczkowska M, Klisiewicz A, Wrzesiński K, Prejbisz A, Niewada M, Kabat M, Szperl M, Eisenhofer G, Lenders JW, Januszewicz A.

Endocr Pract. 2014 Dec;20(12):e233-6. doi: 10.4158/EP13498.CR.

PMID:
25148811
16.

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.

Castinetti F, Qi XP, Walz MK, Maia AL, Sansó G, Peczkowska M, Hasse-Lazar K, Links TP, Dvorakova S, Toledo RA, Mian C, Bugalho MJ, Wohllk N, Kollyukh O, Canu L, Loli P, Bergmann SR, Biarnes Costa J, Makay O, Patocs A, Pfeifer M, Shah NS, Cuny T, Brauckhoff M, Bausch B, von Dobschuetz E, Letizia C, Barczynski M, Alevizaki MK, Czetwertynska M, Ugurlu MU, Valk G, Plukker JT, Sartorato P, Siqueira DR, Barontini M, Szperl M, Jarzab B, Verbeek HH, Zelinka T, Vlcek P, Toledo SP, Coutinho FL, Mannelli M, Recasens M, Demarquet L, Petramala L, Yaremchuk S, Zabolotnyi D, Schiavi F, Opocher G, Racz K, Januszewicz A, Weryha G, Henry JF, Brue T, Conte-Devolx B, Eng C, Neumann HP.

Lancet Oncol. 2014 May;15(6):648-55. doi: 10.1016/S1470-2045(14)70154-8. Epub 2014 Apr 15.

PMID:
24745698
17.

Impact of genetic and clinical factors on dose requirements and quality of anticoagulation therapy in Polish patients receiving acenocoumarol: dosing calculation algorithm.

Wolkanin-Bartnik J, Pogorzelska H, Szperl M, Bartnik A, Koziarek J, Bilinska ZT.

Pharmacogenet Genomics. 2013 Nov;23(11):611-8. doi: 10.1097/FPC.0000000000000004.

PMID:
24108193
18.

Polymorphisms of angiotensin II type 1 receptor gene and those of angiotensinogen point at culprit artery in ST-segment elevation myocardial infarction.

Konopka A, Szperl M, Piotrowski W, Stępińska J.

Gene. 2012 May 25;500(1):148-50. doi: 10.1016/j.gene.2012.03.014. Epub 2012 Mar 27.

PMID:
22475523
19.

Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.

Saj M, Dabrowski R, Labib S, Jankowska A, Szperl M, Broda G, Szwed H, Tesson F, Bilinska ZT, Ploski R.

Mol Diagn Ther. 2012 Apr 1;16(2):99-107. doi: 10.2165/11597540-000000000-00000.

PMID:
22413764
20.

Is evaluation of complex polymorphism helpful in the assessment of prognosis after percutaneous coronary intervention. A prospective study.

Rywik TM, Szperl M, Płoski R, Leszek P, Roszczynko M, Rynkun D, Witkowski A, Kurjata P, Korewicki J.

Kardiol Pol. 2011;69(9):881-8.

PMID:
21928191
21.

Myocardial iron homeostasis in advanced chronic heart failure patients.

Leszek P, Sochanowicz B, Szperl M, Kolsut P, Brzóska K, Piotrowski W, Rywik TM, Danko B, Polkowska-Motrenko H, Różański JM, Kruszewski M.

Int J Cardiol. 2012 Aug 9;159(1):47-52. doi: 10.1016/j.ijcard.2011.08.006. Epub 2011 Sep 6.

PMID:
21899903
22.

Combined renin-angiotensin system gene polymorphisms and outcomes in coronary artery disease - a preliminary report.

Dzielińska Z, Małek LA, Roszczynko M, Szperl M, Demkow M, Kądziela J, Prejbisz A, Zieliński T, Januszewicz A, Rużyłło W.

Kardiol Pol. 2011;69(7):688-95.

PMID:
21769789
23.

Influence of renin-angiotensin system gene polymorphisms on the risk of ST-segment-elevation myocardial infarction and association with coronary artery disease risk factors.

Konopka A, Szperl M, Piotrowski W, Roszczynko M, Stępińska J.

Mol Diagn Ther. 2011 Jun 1;15(3):167-76. doi: 10.2165/11590650-000000000-00000.

PMID:
21657802
24.

Expression of cellular retinoic acid-binding protein I and II (CRABP I and II) in embryonic mouse hearts treated with retinoic acid.

Stachurska E, Loboda A, Niderla-Bielińska J, Szperl M, Juszyński M, Jozkowicz A, Dulak J, Ratajska A.

Acta Biochim Pol. 2011;58(1):19-29. Epub 2011 Mar 16.

25.

Polymorphisms of the beta-1 and beta-2 adrenergic receptors in Polish patients with idiopathic dilated cardiomyopathy.

Paczkowska A, Szperl M, Małek Ł, Mazurkiewicz Ł, Skóra E, Grzybowski J, Roszczynko M, Bilińska Z, Tesson F, Ruzyłło W.

Kardiol Pol. 2009 Mar;67(3):235-41.

PMID:
19378229
26.

Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

Saj M, Jankowska A, Lewandowski M, Szwed H, Szperl M, Płoski R, Bilińska ZT.

Int J Cardiol. 2010 Oct 29;144(3):e51-3. doi: 10.1016/j.ijcard.2008.12.083. Epub 2009 Jan 22.

PMID:
19167105
27.

Genetic variants in hypertensive patients with coronary artery disease and coexisting atheromatous renal artery stenosis.

Szperl M, Dzielinska Z, Roszczynko M, Malek LA, Makowiecka-Ciesla M, Demkow M, Kadziela J, Prejbisz A, Florczak E, Zielinski T, Januszewicz A, Ruzyllo W.

Med Sci Monit. 2008 Dec;14(12):CR611-6.

PMID:
19043368
28.

Alterations in calcium regulatory protein expression in patients with preserved left ventricle systolic function and mitral valve stenosis.

Leszek P, Szperl M, Klisiewicz A, Janas J, Rózański J, Rywik T, Piotrowski W, Kopacz M, Korewicki J.

J Card Fail. 2008 Dec;14(10):873-80. doi: 10.1016/j.cardfail.2008.07.232. Epub 2008 Sep 12.

PMID:
19041052
29.

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling.

Jozwiak J, Sahin M, Jozwiak S, Kotulska K, Ploski R, Szperl M, Wlodarski PK.

Int J Cardiol. 2009 Feb 6;132(1):145-7. Epub 2007 Nov 26.

PMID:
18037514
30.

Alteration of myocardial sarcoplasmic reticulum Ca2+-ATPase and Na+-Ca2+ exchanger expression in human left ventricular volume overload.

Leszek P, Szperl M, Klisiewicz A, Janas J, Biederman A, Rywik T, Piotrowski W, Kopacz M, Korewicki J.

Eur J Heart Fail. 2007 Jun-Jul;9(6-7):579-86. Epub 2007 Mar 7.

31.

[Calreticulin, Ca2+-binding chaperon of the endoplasmic reticulum].

Szperl M, Opas M.

Postepy Biochem. 2005;51(4):382-6. Review. Polish.

PMID:
16676572
32.

The C677T mutation in methylenetetrahydrofolate reductase gene, plasma homocysteine concentration and the risk of coronary artery disease.

Kadziela J, Janas J, Dzielińska Z, Szperl M, Gaździk D, Chotkowska E, Piotrowski W, Ruzyłło W.

Kardiol Pol. 2003 Jul;59(7):17-26; discussion 26.

PMID:
14560345
33.

Colony-stimulating factor 1-dependent resident macrophages play a regulatory role in fighting Escherichia coli fecal peritonitis.

Wiktor-Jedrzejczak W, Dzwigala B, Szperl M, Maruszynski M, Urbanowska E, Szwech P.

Infect Immun. 1996 May;64(5):1577-81.

34.

Granulocyte-macrophage colony-stimulating factor accelerates growth of Lewis lung carcinoma in mice.

Feleszko W, Giermasz A, Gołatb J, Lasek W, Kuc K, Szperl M, Jakóbisiak M.

Cancer Lett. 1996 Mar 29;101(2):193-7.

PMID:
8620469
35.

Increased resistance of CSF-1-deficient, macrophage-deficient, TNF alpha-deficient, and IL-1 alpha-deficient op/op mice to endotoxin.

Szperl M, Ansari AA, Urbanowska E, Szwech P, Kalinski P, Wiktor-Jedrzejczak W.

Ann N Y Acad Sci. 1995 Jul 21;762:499-501. No abstract available.

PMID:
7668571
36.
37.

Distinct in vivo functions of two macrophage subpopulations as evidenced by studies using macrophage-deficient op/op mouse.

Wiktor-Jedrzejczak W, Ansari AA, Szperl M, Urbanowska E.

Eur J Immunol. 1992 Jul;22(7):1951-4.

PMID:
1378025
38.

Administration of colony stimulating factor-1 corrects some macrophage, dental, and skeletal defects in an osteopetrotic mutation (toothless, tl) in the rat.

Marks SC Jr, Wojtowicz A, Szperl M, Urbanowska E, MacKay CA, Wiktor-Jedrzejczak W, Stanley ER, Aukerman SL.

Bone. 1992;13(1):89-93.

PMID:
1581113
39.

Correction by CSF-1 of defects in the osteopetrotic op/op mouse suggests local, developmental, and humoral requirements for this growth factor.

Wiktor-Jedrzejczak W, Urbanowska E, Aukerman SL, Pollard JW, Stanley ER, Ralph P, Ansari AA, Sell KW, Szperl M.

Exp Hematol. 1991 Nov;19(10):1049-54.

PMID:
1915705

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