Search filters

List of works by Rafał Płoski

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

scientific article published on 17 October 2018

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

scientific article published on 19 November 2020

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

scientific article published on 13 March 2020

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy-A Possible Role of a Low Penetrance NLRP3 Variant

scientific article published on 16 November 2020

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation

article published 2019

A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene

scientific article published on 27 June 2020

A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis

article

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report

article

A cautionary note on using binary calls for analysis of DNA methylation.

scientific article published on 13 February 2015

A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation

scientific article published on 20 October 2020

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

scientific article

A different background of arrhythmia in siblings with a positive family history of sudden death at young age

scientific article published on 14 October 2019

A gene in the telomeric HLA complex distinct from HLA-A is involved in predisposition to juvenile idiopathic arthritis

scientific article published in June 2002

A gene in the telomeric HLA complex distinct from HLA-A is involved in predisposition to juvenile idiopathic arthritis (JIA).

scientific article published on 4 February 2002

A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1α polymorphism

scientific article published on 01 February 1995

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

scientific article (publication date: September 2014)

A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation

scientific article published on 18 November 2010

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

scientific article

A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction and thoracic aortic aneurysm

scientific article published on 13 November 2020

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

scientific article

A novel juvenile idiopathic arthritis (JIA) susceptibility gene in HLA class I region marked by microsatellite D6S265.

scientific article

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

scientific article published on 09 October 2019

A rare mutation in a rare tumor-SMARCB1-deficient malignant glomus tumor

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

scientific article published on 3 April 2015

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

scientific article published on 08 January 2019

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Abstract 5347: SK053, a small molecule inhibitor of enzymes involved in allosteric disulfide bonds formation, shows potent anti-leukemic effects and induces differentiation of human AML cells

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

scientific article published on 14 April 2020

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

scientific article published on 08 April 2020

Advances in genetic hearing loss: CIB2 gene

scientific article

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

scientific article published on 10 January 2006

Altered Levels of Proteins and Phosphoproteins, in the Absence of Early Causative Transcriptional Changes, Shape the Molecular Pathogenesis in the Brain of Young Presymptomatic Ki91 SCA3/MJD Mouse.

scientific article published on 14 June 2019

An association between genetic variation in the glutamatergic system and suicide attempts in alcohol-dependent individuals

scientific article published on 30 May 2017

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

scientific article

An unusual case of epidermodysplasia verruciformis with mild cutaneous involvement and extensive genital cancers

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

scientific article published on 29 January 2020

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor

scientific article published on 19 May 2022

Analysis of forensically used autosomal short tandem repeat markers in Polish and neighboring populations

scientific article

Analysis of four genes involved in the neurodevelopment shows association of rs4307059 polymorphism in the cadherin 9/10 region with completed suicide

scientific article published on 27 July 2012

Analysis of genotype 1b hepatitis C virus IRES in serum and peripheral blood mononuclear cells in patients treated with interferon and ribavirin

scientific article

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

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

scientific article

Angiotensin-converting enzyme polymorphism and completed suicide: an association in Caucasians and evidence for a link with a method of self-injury

scientific article

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"

scientific article published on 09 March 2020

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

scientific article published on 15 November 2017

Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins.

scientific article published in November 2005

Association between FKBP5 Functional Polymorphisms and Completed Suicide

scientific article published on 3 December 2015

Association between age at diagnosis of Graves' disease and variants in genes involved in immune response

scientific article published on 27 March 2013

Association between polymorphisms in the TSHR gene and Graves' orbitopathy.

scientific article

Association between tryptophan hydroxylase 2 gene polymorphism and completed suicide

scientific article published on December 2010

Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population

scientific article

Association of 49245A>G (rs868) polymorphism in the 3'UTR of donor TGFBR1 gene with course of hepatitis C following orthotopic liver transplantation.

scientific article published on 12 December 2014

Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease

article

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

scientific article published on 21 March 2019

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

article

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma

scientific article published on 20 June 2007

Association of UDP-glucuronosyltransferase 1A9 (UGT1A9) gene polymorphism with kidney allograft function

article

Association of serotoninergic pathway gene variants with elite athletic status in the Polish population

scientific article published on 05 March 2019

Association of tumor necrosis factor and human leukocyte antigen DRB1 alleles with Graves' ophthalmopathy

scientific article published in June 2004

Association to HLA-DRB1∗08, HLA-DPB1∗0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis

article

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

Author Correction: Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta

scientific article published on 10 February 2020

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

scientific article published on 16 August 2017

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

scientific article

Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations

article

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

scientific article published on 6 November 2015

Basic Bioinformatic Analyses of NGS Data

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

scientific article published in January 2016

Borrelia burgdorferi sensu lato infection in passerine birds from the Mazurian Lake region (Northeastern Poland).

scientific article published in February 2004

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

scientific article published on 15 July 2021

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Can HLA-DRB1 typing have prognostic value in patients with undifferentiated chronic arthritis?

scientific article published in June 1998

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

scientific article published on 26 November 2007

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

scientific article

Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus

scientific article published on 01 September 2021

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

scientific article published on 01 October 2019

Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation.

scientific article published in August 2006

Clinical Applications for Next Generation Sequencing in Cardiology

Clinical and genetic risk factors for suicide under the influence of alcohol in a Polish sample

scientific article published on September 2009

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

Clinical, biochemical and genetical resistance to clopidogrel in a patient with the recurrent coronary stent thrombosis--a case report and review of the literature.

scientific article published on 27 December 2005

Clinical, biochemical and genetical resistance to clopidogrel in a patient with the recurrent coronary stent thrombosis—A case report and review of the literature. Response

article

Clinico-pathological correlation in case of BRAT1 mutation

scientific article published on 01 January 2018

Co-occurrence of Jalili syndrome and muscular overgrowth

scientific article published on 6 June 2017

Coding region polymorphisms of human T-cell receptor V beta 6.9 and V beta 21.4.

scientific article published in August 1992

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

scientific article published on 25 September 2017

Coexisting polymorphisms of P2Y12 and CYP2C19 genes as a risk factor for persistent platelet activation with clopidogrel.

scientific article published in July 2008

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report

scientific article published on 23 January 2019

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

scientific article

Common atherosclerosis genetic risk factors and subclinical atherosclerosis in rheumatoid arthritis: the relevance of disease duration

scholarly article by Bartłomiej Kisiel et al published 29 October 2018 in Rheumatology International

Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit

scientific article published on 26 March 2009

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

scientific article

Contemporary role of medical genetics in internal medicine.

scientific article published on 30 April 2013

Correcting for binomial measurement error in predictors in regression with application to analysis of DNA methylation rates by bisulfite sequencing

scientific article

Correction: Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance.

scientific article published on 10 September 2013

Correlation between genetic and geographic structure in Europe

scientific article

Corrigendum: Next-generation Sequencing Analysis of New Genotypes Appearing During Antiviral Treatment of Chronic Hepatitis C Reveals that These Are Selected from Pre-existing Minor Strains

scientific article published on 11 January 2019

Cumulative risk impact of five genetic variants associated with papillary thyroid carcinoma

scientific article published on 29 August 2013

Cytochrome P450 2C19 polymorphism, suboptimal reperfusion and all-cause mortality in patients with acute myocardial infarction

scientific article published on 6 October 2010

Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis

scientific article

DISC1 as a Possible Genetic Contribution to Opioid Dependence in a Polish Sample

scientific article published on March 2016

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.

scientific article

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease

scientific article published on 07 February 2018

DNA-based predictive models for the presence of freckles

scientific article published on 30 July 2019

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

scientific article published on 05 August 2020

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

scientific article published on 12 December 2020

Deep sequencing of hepatitis C virus hypervariable region 1 reveals no correlation between genetic heterogeneity and antiviral treatment outcome

scientific article

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

scientific article published on 13 July 2019

Development of a forensically useful age prediction method based on DNA methylation analysis

article

Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones

scientific article published on 11 March 2021

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

scientific article published on 20 January 2021

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

scientific article published on 13 June 2018

Diabetic foot risk factors in type 2 diabetes patients: a cross-sectional case control study

scientific article

Differences in Gene-Gene Interactions in Graves' Disease Patients Stratified by Age of Onset.

scientific article

Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta

scientific article published on 20 October 2010

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016

Dilated cardiomyopathy in the postgenomic era

scientific article published on 01 November 2009

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

Distribution of TNFA haplotypes in healthy Caucasians: comment on the articles by Newton et al and Zeggini et al.

scientific article published in June 2004

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

scientific article published in January 2014

Does the KIR2DS5 gene protect from some human diseases?

scientific article

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

scientific article published in March 2018

Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation.

scientific article published on 6 September 2016

Dw14 is a Dw4independent risk factor for rheumatoid arthritis among Norwegians

scientific article published on 01 May 1992

Effect of protein convertase subtilisin/kexin type 9 (PCSK9) 46L gene polymorphism on LDL cholesterol concentration in a Polish adult population

scientific article

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

scientific article published on 01 July 2007

Erratum to: Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation.

scientific article

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations

scientific article published on 22 April 2016

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

scientific article

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

scientific article

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant - delineation based on seven novel Polish patients

scientific article published on 29 July 2020

Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science

scientific article published on 14 October 2014

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

scientific article published on 21 December 2020

Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data

scientific article published on 05 August 2020

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

scientific article published on 06 August 2019

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy

scientific article published on 10 July 2019

Familial form of arrhythmogenic right ventricular cardiomyopathy

scientific article published on 01 January 2004

Familial thoracic aortic aneurysms and dissections (FTAAD)

scientific article

Fatal primary pulmonary hypertension in a 30‐yr-old female with APECED syndrome

scientific article published on 01 October 2003

Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort

scientific article

Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations

scientific article published on 11 July 2013

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

scientific article

Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population

scientific article published on 25 May 2011

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

scientific article

Future Directions

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

scientific article published in September 2008

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves' ophthalmopathy

scientific article published on 10 November 2016

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

article

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

article

Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis

scientific article published in September 2017

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

scientific article published on 21 November 2019

Genetic Variability of Hepatitis C Virus (HCV) 5' Untranslated Region in HIV/HCV Coinfected Patients Treated with Pegylated Interferon and Ribavirin

scientific article

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

scientific article published on 03 February 2010

Genetic evaluation of patients with Alström syndrome in the Polish population.

scientific article

Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation

scientific article published on 13 May 2019

Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort

scientific article

Genetic predictors associated with diabetic retinopathy in diabetic foot patients

scientific article published on 7 November 2017

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

scientific article published on 15 September 2008

Genomic landscape of human erythroleukemia K562 cell line, as determined by next-generation sequencing and cytogenetics

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm

scientific article published on 11 April 2019

HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE

scientific article published on 29 June 2015

HLA–DRI and susceptibility to acute anterior uveitis in ankylosing spondylitis: Comment on the article by Monowarul Islam et al

scientific article published on 01 February 1996

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation

scientific article

Haplotype dependent association of rs7927894 (11q13.5) with atopic dermatitis and chronic allergic rhinitis: A study in ECAP cohort.

scientific article published on 8 September 2017

Harnessing the potential of the environmental microbiome in forensic science

scientific article published in 2021

Hepatitis C virus (HCV) genotype 1b displays higher genetic variability of hypervariable region 1 (HVR1) than genotype 3

scientific article published on 06 September 2019

Hepatitis C virus 5' untranslated region variability correlates with treatment outcome.

scientific article published on 13 October 2013

Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers.

scientific article published on February 2002

Hla class ii alleles and heterogeneity of juvenile rheumatoid arthritis.drb1*0101 may define a novel subset of the disease

scientific article published on 01 April 1993

Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis

scientific article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

scientific article

Hybrid de novo whole-genome assembly and annotation of the model tapeworm Hymenolepis diminuta

scientific article published on 03 December 2019

Identification and In Silico Characterization of a Novel Gene Variant in a Child with Mucosal Rectal Prolapse

scientific article published on 27 March 2022

Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers

scientific article published on 24 June 2020

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

scientific article published on 21 January 2017

Immunogenetic polymorphism and disease mechanisms in juvenile chronic arthritis

scientific article published on October 1997

Impact of MTHFR C677T gene polymorphism and vitamins intake on homocysteine concentration in the Polish adult population

article

Increased concentration of T-cell receptor rearrangement excision circles (TREC) in peripheral blood in Graves' disease

article published in 2014

Increased concentration of T-cell receptor rearrangement excision circles (TREC) in peripheral blood in Graves' disease

Influence of C3435T multidrug resistance gene-1 (MDR-1) polymorphism on platelet reactivity and prognosis in patients with acute coronary syndromes

scientific article published in August 2009

Inhibition of protein disulfide isomerase induces differentiation of acute myeloid leukemia cells

scientific article published on 12 July 2018

Interaction between HLA-DR and HLA-DP, and Between HLA and interleukin 1α in juvenile rheumatoid arthritis indicates heterogeneity of pathogenic mechanisms of the disease

scientific article published on 01 April 1995

Intra- and inter-population analysis of haplotype diversity in Yfiler ® Plus system using a wide set of representative data from Polish population

scientific article published on 27 January 2017

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review

scientific article published on 22 September 2020

Intrafamilial variability of cardiovascular abnormalities in relation to p.R460H TGFBR2 mutation

scientific article published on 18 May 2020

Inverse association between obesity predisposing FTO genotype and completed suicide

scientific article

Inverse association of the obesity predisposing FTO rs9939609 genotype with alcohol consumption and risk for alcohol dependence

scientific article published on 23 December 2010

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

scientific article

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

scientific article published on 15 March 2017

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

scientific article

Juvenile idiopathic arthritis is associated to a functionally active polymorphism in the SH2D2A gene.

scientific article published on 26 January 2001

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

scientific article published on 14 July 2016

KIR2DS5 in the presence of HLA-C C2 protects against endometriosis

scientific article

KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.

scientific article published on 10 January 2017

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

scientific article published on 01 January 2014

Killer immunoglobulin-like receptor (KIR) and HLA genotypes affect the outcome of allogeneic kidney transplantation.

scientific article

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies

scientific article

Lack of KIR2DL4 gene in a fertile Caucasian woman

article

Lack of association with T-cell receptor TCRBV6S1 * 2 allele in HLA-DQA1 * 0101-positive Norwegian juvenile chronic arthritis patients

scientific article published on 01 January 1993

Lamin A/C mutations in dilated cardiomyopathy

scientific article published on 20 May 2014

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene

scientific article

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

scientific article published on 18 November 2020

Linkage disequilibrium between TAP2 variants and HLA class II alleles; no primary association between TAP2 variants and insulin-dependent diabetes mellitus

article

Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients

scientific article published in December 2021

Lymphocyte counts in kidney allograft recipients are associated with IMPDH2 3757T>C gene polymorphism

scientific article published in October 2011

Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset

scientific article published in June 2005

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

scientific article published on 01 November 2007

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

scientific article

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies.

scientific article published in January 2017

Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis

scientific article published on 17 June 2016

Methotrexate, Cyclosporine A, and Biologics Protect against Atherosclerosis in Rheumatoid Arthritis

scientific article published on 18 May 2015

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

scientific article published on 18 October 2017

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

scientific article published on 18 October 2019

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

scientific article published on 20 December 2018

Modified aging of elite athletes revealed by analysis of epigenetic age markers

scientific article published on 15 February 2018

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

scientific article published on 17 November 2008

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

article

Molecular bases of metachromatic leukodystrophy in Polish patients

scientific article published on 26 March 2010

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Multidrug resistance-associated protein 2 gene (ABCC2) variant in kidney allograft recipients.

scientific article published in October 2009

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

scientific article published on 01 April 2019

Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.

scientific article

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

scientific article published on 28 March 2010

Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.

scientific article published on 15 October 2016

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

scientific article published on 21 May 2020

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

scientific article published on 24 January 2019

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

scientific article published on 11 October 2018

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

scientific article

New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis

scientific article published on 01 January 2018

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article

Next Generation Sequencing—General Information about the Technology, Possibilities, and Limitations

Next-Generation Sequencing of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment

scientific article published on 9 January 2016

Next-generation sequencing analysis of a cluster of hepatitis C virus infections in a haematology and oncology center.

scientific article

Next-generation sequencing analysis of new genotypes appearing during antiviral treatment of chronic hepatitis C reveals that these are selected from pre-existing minor strains

scientific article published on 05 November 2018

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

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

scientific article published on 21 November 2015

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

No association between MTHFR C677T polymorphism and completed suicide

scientific article published on 14 September 2012

Non-HLA genes and susceptibility to juvenile chronic arthritis

article

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus

scientific article published in 2023

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

scientific article published on 16 July 2021

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

scientific article published on 28 March 2019

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

scientific article published on 22 November 2017

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

scientific article

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

scientific article published on 28 July 2013

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

scientific article published on 25 September 2018

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

scientific article

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

scientific article

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

scientific article published on 24 October 2009

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

scientific article

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

scientific article published on 2 October 2015

Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.

scientific article

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

scientific article published on 01 July 2019

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

scientific article

NullHap--a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles

scientific article

OXTR polymorphism in depression and completed suicide-A study on a large population sample

scientific article published on 7 December 2016

On the HLA-DQ(α1*0501, β1*0201)-associated susceptibility in celiac disease: A possible gene dosage effect ofDQB1*0201

article

Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes

scientific article published on 01 May 2001

Osteoprotegerin gene rs2073617 and rs3134069 polymorphisms in type 2 diabetes patients and sex‑specific rs2073618 polymorphism as a risk factor for diabetic foot

article

Overlapping association signals in the genetics of hair-related phenotypes in humans and their relevance to predictive DNA analysis

scientific article published on 25 March 2022

PTPN22/LYP 1858C>T gene polymorphism and susceptibility to endometriosis in a Polish population

scientific article published in January 2009

Paediatric-onset and adult-onset Graves' disease share multiple genetic risk factors

scientific article published on 15 November 2018

Paraphilic Sexual Offenders Do Not Differ From Control Subjects With Respect to Dopamine- and Serotonin-Related Genetic Polymorphisms

scientific article published on 15 December 2016

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.

scientific article

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia

scientific article published on 2 January 2018

Peritoneal cytokines and adhesion formation in endometriosis: an inverse association with vascular endothelial growth factor concentration

scientific article published on 28 April 2012

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

scientific article published on 02 October 2020

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

scientific article published on 2 April 2018

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

scientific article published on 24 July 2020

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Polish population data on 15 autosomal STRs of AmpFlSTR NGM PCR kit.

scientific article

Polish version of the ADI-R (Autism Diagnostic Interview-Revised)

scientific article published on March 1, 2012

Polish version of the ADOS (autism diagnostic observation schedule-generic)

scientific article published on September 1, 2012

Polymorphic variants of DNMT3A and the risk of endometriosis.

scientific article published on 25 September 2012

Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction

scientific article

Polymorphism of human major histocompatibility complex-encoded transporter associated with antigen processing (TAP) genes and susceptibility to juvenile rheumatoid arthritis

article

Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease

article

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

scientific article

Population genetics of 10 STR loci in a population of Central Poland

article

Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of theEVER2gene in patients without epidermodysplasia verruciformis

article

Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene

scientific article

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib

scientific article published on 15 November 2020

Pregnancy and early onset pauciarticular juvenile chronic arthritis

scientific article published on August 1999

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report

scientific article published on 31 July 2019

Prevalence of classical risk factors in Polish women with premature coronary artery disease.

scientific article

Primary progressive multiple sclerosis and neurofibromatosis type 1

scientific article published on 25 April 2019

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

scientific article published on 25 August 2017

Prognostic factors in juvenile rheumatoid arthritis: a case-control study revealing early predictors and outcome after 14.9 years.

scientific article published in February 2003

Protective effect of the KIR2DS1 gene in atopic dermatitis

scientific article published on 4 July 2013

Puzzling outcome of the nationwide genetic survey of severe/moderate female haemophilia B in Poland

scientific article published on 02 October 2019

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.

scientific article published on 5 June 2018

Recipient uridine 5'-diphospho-glucuronosyltransferase UGT1A9 c.98T>C variant determines transplanted kidney filtration rate.

scientific article published in October 2014

Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland

scientific article published on 27 May 2019

Response to letter of Dr van Werkum et al

scientific article published on 08 March 2007

Restrictive cardiomyopathy due to novel desmin gene mutation

scientific article

Rheumatoid arthritis in Poland and Lithuania: different clinical course and HLA associations despite similar genetic background

scientific article published in January 2005

Risk factors of charcot neuroarthropathy development in patients with type 2 diabetes

scientific article published on 7 November 2013

Risk factors of diabetic foot of neuropathic origin in patients with type 2 diabetes

scientific article published in January 2015

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

scientific article published on 4 July 2016

SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility

scientific article published on 28 March 2013

STR data for the power plex-16 loci in a population from Central Poland

scientific article published in January 2004

Searching for improvements in predicting human eye colour from DNA

scientific article

Selected RANKL/RANK/OPG system genetic variants in diabetic foot patients

scientific article published on 09 November 2018

Sensitivity of Next-Generation Sequencing Metagenomic Analysis for Detection of RNA and DNA Viruses in Cerebrospinal Fluid: The Confounding Effect of Background Contamination

scientific article published on 13 July 2016

Seronegative and weakly seropositive rheumatoid arthritis differ from clearly seropositive rheumatoid arthritis in HLA class II associations

scientific article published on 01 August 1994

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation

article

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis

scientific article

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

scientific article published on 13 April 2020

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

scientific article published on 22 April 2016

Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells

scientific article

Spouse-to-Spouse Transmission and Evolution of Hypervariable Region 1 and 5' Untranslated Region of Hepatitis C Virus Analyzed by Next-Generation Sequencing

scientific article

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

scientific article published on 21 March 2019

Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing

scientific article published on 07 November 2018

Susceptibility genes in Graves' ophthalmopathy: searching for a needle in a haystack?

scientific article published on 23 May 2007

Susceptibility to ovarian endometriosis in Polish population is not associated with HLA-DRB1 alleles

scientific article published on 21 January 2005

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction

scientific article published on 06 August 2019

Systemic lupus erythematosus: the influence of disease-related and classical risk factors on intima media thickness and prevalence of atherosclerotic plaques--a preliminary report. Beneficial effect of immunosuppressive treatment on carotid intima m

scientific article published on April 2015

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

TRIM28 and Interacting KRAB-ZNFs Control Self-Renewal of Human Pluripotent Stem Cells through Epigenetic Repression of Pro-differentiation Genes

scientific article published on 28 November 2017

Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

scientific article published on 24 July 2020

The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation

scientific article published on 2 February 2016

The 9p21 polymorphism is linked with atrial fibrillation during acute phase of ST-segment elevation myocardial infarction.

scientific article published on 28 November 2015

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

scientific article

The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

scientific article

The association between 38 previously reported polymorphisms and psoriasis in a Polish population: High predicative accuracy of a genetic risk score combining 16 loci

scientific article

The association between the insertion/deletion polymorphism of the angiotensin-converting enzyme gene and the plasma fibrinogen level in women and men with premature coronary artery atherosclerosis

scientific article published on 25 June 2020

The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease

scientific article published on 22 December 2014

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

scientific article published on 13 May 2011

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The genetic basis of graves' disease

scientific article published on December 2011

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

scientific article

The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis.

scientific article published on 12 December 2017

The impact of early menopause on risk of coronary artery disease (PREmature Coronary Artery Disease In Women – PRECADIW case-control study)

scientific article published on 21 February 2011

The impact of the recipient and donor interferon lambda-3 polymorphism on the course of HCV infection following liver transplantation

scientific article published on 12 June 2017

The methylenetetrahydrofolate reductase c.c.677 C>T and c.c.1298 A>C polymorphisms in reproductive failures: Experience from an RSA and RIF study on a Polish population.

scientific article published on 26 October 2017

The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

scientific article

The replication of the association of the rs6832151 within chromosomal band 4p14 with Graves' disease in a Polish Caucasian population

scientific article published on 01 May 2012

The role of analysis of EVER2 haplotypes in actinic keratosis

The role of the ITLN1 gene rs2274907 polymorphism in diabetic foot patients

article

The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

scientific article published on 18 June 2015

The rs9982601 polymorphism of the region between the SLC5A3/MRPS6 and KCNE2 genes associated with a prevalence of myocardial infarction and subsequent long-term mortality

article

Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.

scientific article

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

scientific article

Toward male individualization with rapidly mutating y-chromosomal short tandem repeats

scientific article

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

scientific article published on 24 April 2007

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance

scientific article published on 08 June 2012

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Tyrosine kinase inhibitor-induced defects in DNA repair sensitize FLT3(ITD)-positive leukemia cells to PARP1 inhibitors.

scientific article

Tyrosinemia type III in an asymptomatic girl

scientific article

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance

scientific article

Ultradeep pyrosequencing of hepatitis C virus hypervariable region 1 in quasispecies analysis

scientific article published on 28 April 2013

Uridine diphosphate glucuronosyltransferase 2B7 variant p.His268Tyr as a predictor of kidney allograft early acute rejection.

scientific article published in May 2013

Validation of nine non-CODIS STR loci for forensic use in a population from Central Poland.

scientific article

Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population.

scientific article published on 18 June 2018

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

scientific article published on 19 December 2017

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

scientific article published on 14 December 2020

Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma

scientific article

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

scientific article

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

scientific article published on 2 December 2017

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion

scientific article published on 26 November 2019

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes

scientific article published on 10 November 2020

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 24 December 2019

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

rs3827440, a nonsynonymous single nucleotide polymorphism within GPR174 gene in X chromosome, is associated with Graves' disease in Polish Caucasian population.

scientific article

Paulina is supported by:

About Paulina

Help