M. Chmara

发表

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

A. Rynkiewicz, M. Gruchała, A. Węgrzyn, 2016, Journal of atherosclerosis and thrombosis.

Genetics and genetic testing in pulmonary arterial hypertension (RCD code: II-1A.2)

E. Lewicka, A. Dąbrowska-Kugacka, B. Wasąg, 2018 .

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

F. Speleman, J. Vermeesch, R. Sciot, 2006, Genes, chromosomes & cancer.

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

R. Dziadziuszko, J. Jassem, E. Jassem, 2004, Anticancer research.

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

G. Francis, Qian Wang, D. Gaudet, 2021, The Lancet.

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.

M. Pencina, T. Zdrojewski, M. Gruchała, 2019, American heart journal.

Molecular basis of familial hypercholesterolemia in Poland – update from the Polish national centre of diagnostics and treatment of familial hypercholesterolemia

A. Rynkiewicz, J. Limon, M. Gruchała, 2016 .

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

A. Wierzbicka, J. Limon, E. Pronicka, 2010, Journal of Applied Genetics.

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

A. Rynkiewicz, M. Gruchała, R. Gałąska, 2018, PloS one.

Homozygous familial hypercholesterolemia due to APOB genetic variant with unusual clinical course.

M. Gruchała, K. Chlebus, T. Tromp, 2021, Kardiologia polska.

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

A. Rynkiewicz, J. Limon, E. Pronicka, 2010, Journal of Applied Genetics.

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

G. Raczak, M. Jaguszewski, M. Gruchała, 2019, Cardiology journal.

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms

B. Godlewska, J. Limon, B. Lipska-Ziętkiewicz, 2016, Alzheimer's Research & Therapy.

Effectiveness and safety of PCSK9 inhibitor therapy in patients with familial hypercholesterolemia within a therapeutic program in Poland: Preliminary multicenter data

M. Małecki, T. Zdrojewski, M. Gruchała, 2022, Cardiology journal.

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

E. Legius, B. Wasąg, M. Chmara, 2012, Journal of dermatological science.

Generalized version of the Lions-type lemma

M. Chmara, 2023, 2301.04389.

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

H. Peeters, T. Giner, R. Sciot, 2013, Genes, chromosomes & cancer.

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

G. Thomas, P. Marynen, A. Yoshimura, 2007, Nature Genetics.

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

Eric Legius, Jan Cools, Kevin Shannon, 2008, Human mutation.

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

S. Humphries, M. Jaguszewski, M. Gruchała, 2020, Life.

Legius Syndrome in Fourteen Families

A. V. D. van den Ouweland, A. Yoshimura, Eline Beert, 2011, Human mutation.

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

R. Butzow, J. Lasota, M. Miettinen, 2016, The American journal of surgical pathology.

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

A. Rynkiewicz, J. Limon, M. Gruchała, 2014, Polskie Archiwum Medycyny Wewnetrznej.

Existence of Two Periodic Solutions to General Anisotropic Euler-Lagrange Equations

M. Chmara, 2019, Taiwanese Journal of Mathematics.

Anisotropic Orlicz–Sobolev spaces of vector valued functions and Lagrange equations

M. Chmara, J. Maksymiuk, 2017, 1702.08683.

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.

P. Siondalski, K. Lewandowski, R. Lango, 2018, Acta biochimica Polonica.

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

A. Rynkiewicz, T. Bandurski, J. Limon, 2016, Atherosclerosis.

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

D. Cysewski, J. Limon, B. Wasąg, 2019, Scientific Reports.

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

A. Rynkiewicz, J. Limon, M. Gruchała, 2020, Life.

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

D. Cysewski, J. Limon, B. Wasąg, 2019, Scientific Reports.

The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms

B. Godlewska, J. Limon, B. Lipska-Ziętkiewicz, 2016, Alzheimer's Research & Therapy.

Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants

K. Waleron, L. Kalinowski, Anna Janaszak-Jasiecka, 2023, International journal of molecular sciences.

Aortic Wall Thickness as a Surrogate for Subclinical Atherosclerosis in Familial and Nonfamilial Hypercholesterolemia: Quantitative 3D Magnetic Resonance Imaging Study and Interrelations with Computed Tomography Calcium Scores, and Carotid Ultrasonography

A. Rynkiewicz, M. Gruchała, A. Sabisz, 2023, Journal of clinical medicine.

Clinical Course of Homozygous Familial Hypercholesterolemia during Childhood: Report on 4 Unrelated Patients with Homozygous or Compound Heterozygous Mutations in the Ldlr Gene

A. Wierzbicka, H. Mierzewska, J. Defesche, 2022 .

Risk factors of acute respiratory distress syndrome after on-pump cardiac surgery in the INFLACOR cohort study

K. Lewandowski, R. Lango, Andrzej Klapkowski, 2020, European Journal of Translational and Clinical Medicine.

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

G. Francis, Qian Wang, D. Gaudet, 2021, Lancet.

Higher responsiveness to rosuvastatin in polygenic versus monogenic hypercholesterolaemia: a propensity score analysis

S. Humphries, M. Jaguszewski, M. Gruchała, 2020 .

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

N. Antonio-Villa, A. Vargas-Vázquez, J. Jozwiak, 2023, The Lancet.