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List of works by Małgorzata Szperl

A novel life-threatening mutation in long QT2 syndrome

scientific article published on 19 May 2015

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

scientific article published on 01 January 1992

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

scientific article published on 07 March 2007

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

scientific article published on 12 September 2008

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

scientific article published on 20 March 2017

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

scientific article

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

scientific article published on 26 November 2007

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

scientific article published on 24 June 2015

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

scientific article

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

scientific article published on 25 September 2015

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

scientific article published on 01 January 2011

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

scientific article published in November 1991

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

scientific article published on 22 January 2009

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

scientific article published on 01 July 1992

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

scientific article published on 31 October 2016

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

scientific article published on March 16, 2011

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

scientific article published on 14 December 2016

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

scientific article

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

scientific article published on 01 March 1996

Granulocyte-macrophage colony-stimulating factor corrects macrophage deficiencies, but not osteopetrosis, in the colony-stimulating factor-1-deficient op/op mouse

scientific article published on 01 April 1994

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

scientific article published on 22 September 2018

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

scientific article published in January 2016

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

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

scientific article published in November 2013

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

scientific article published in July 1995

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

scientific article published on 01 June 2011

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

scientific article

MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

scientific article published on 30 May 2016

Mediastinal paragangliomas related to SDHx gene mutations.

scientific article published on 30 September 2016

Myocardial iron homeostasis in advanced chronic heart failure patients

scientific article published on 06 September 2011

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

scientific article published on 4 May 2016

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

scientific article published on 15 April 2014

Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery.

scientific article published in December 2014

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

scientific article published on March 27, 2012

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

scientific article published in March 2009

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

scientific article published on 28 September 2015

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

scientific article published on July 1, 2003

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

scientific article

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

scientific article published on 13 March 2015

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

scientific article

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

scientific article published on 01 January 2005

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