List of works - Magdalena Chmara

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

scientific article published on 14 December 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

scientific article published on 23 October 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

scientific article published on 24 March 2020

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

scientific article published in January 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

scientific article published on 25 April 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

scientific article published on 22 July 2016

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

scientific article

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

scientific article published on 20 May 2020

Legius syndrome in fourteen families.

scientific article

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

scientific article published on 01 November 2004

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

scientific article published on 01 January 2010

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

scientific article

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.

scientific article published on 30 April 2013

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

scientific article

Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia

scientific article published on 03 September 2014

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

scientific article

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

scientific article published on 26 March 2019

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.

scientific article published on 19 May 2016

List of works by Magdalena Chmara

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

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

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

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

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

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

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

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

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

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

Legius syndrome in fourteen families.

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

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

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

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

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

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

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

Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms.