Lista de obras -

Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation

scientific article published in PLoS ONE

Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia

artículo científico publicado en 2015

Cardiovascular risk factor profiles in familial hypercholesterolemia patients with and without genetic mutation compared to a nationally representative sample of adults in a high-risk European country

artículo científico publicado en 2019

Carotid intima-media thickness (IMT) in patients with severe familial and non-familial hypercholesterolemia: The effect of measurement site on the IMT correlation with traditional cardiovascular risk factors and calcium scores

artículo científico publicado en 2020

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

artículo científico publicado en 2008

Clinical, biochemical and genetic risk factors for 30-day and 5-year mortality in 518 adult patients subjected to cardiopulmonary bypass during cardiac surgery - the INFLACOR study

artículo científico publicado en 2018

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland

article

Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases

artículo científico publicado en 2016

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

artículo científico publicado en 2007

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis

artículo científico publicado en 2020

Legius syndrome in fourteen families.

artículo científico publicado en 2011

Long-term lipoprotein apheresis in the treatment of severe familial hypercholesterolemia refractory to high intensity statin therapy: Three year experience at a lipoprotein apheresis centre

scientific article published on 20 September 2018

Loss of heterozygosity at chromosomes 3p and 17p in primary non-small cell lung cancer

artículo científico publicado en 2004

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

artículo científico publicado en 2010

Molecular characterization of two novel KIT mutations in patients with piebaldism.

artículo científico publicado en 2011

Monitoring the Effects of Hypolipidemic Treatment in Children with Familial Hypercholesterolemia in Poland

scientific article published on 04 November 2020

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

artículo científico publicado en 2013

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation