Lista de obras - T Freiberger - Dominio Público Uruguay

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

scientific article published on 16 February 2019

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

artículo científico publicado en 2011

Association between low levels of Mannan-binding lectin and markers of autoimmune thyroid disease in pregnancy

artículo científico publicado en 2013

Association between surgical indications, operative risk, and clinical outcome in infective endocarditis: a prospective study from the International Collaboration on Endocarditis

artículo científico publicado en 2014

Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable immunodeficiency

artículo científico publicado en 2010

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype

scientific article published on 13 August 2019

Biofilm formation, antibiotic susceptibility and RAPD genotypes in Pseudomonas aeruginosa clinical strains isolated from single centre intensive care unit patients

artículo científico publicado en 2017

Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex

scientific article published on 26 April 2019

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

ClinVar database of global familial hypercholesterolemia-associated DNA variants

artículo científico publicado en 2018

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

artículo científico publicado en 2016

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

scientific article published on 15 November 2019

Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.

artículo científico publicado en 2017

Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.

artículo científico publicado en 2004

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

artículo científico publicado en 2001

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

scientific article published on 25 January 2020

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

artículo científico publicado en 2016

Detection of Cardiobacterium valvarum in a patient with aortic valve infective endocarditis by broad-range PCR.

artículo científico publicado en 2009

Differentiation of Staphylococcus spp. by high-resolution melting analysis.

artículo científico publicado en 2010

Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy

artículo científico publicado en 2010

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

artículo científico publicado en 2015

Early diagnosis of familial hypercholesterolemia in Czech Republic in pursuance of MedPed Project

artículo científico publicado en 2015

Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy.

artículo científico publicado en 2003

Evaluation of Fluorescent Capillary Electrophoresis for Rapid Identification of Candida Fungal Infections

artículo científico publicado en 2016

Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema

artículo científico publicado en 2002

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools

artículo científico publicado en 2014

Familial hypercholesterolaemia: A global call to arms

artículo científico publicado en 2015

First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.

artículo científico publicado en 2017

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

scientific article published on 01 April 2002

Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth

scientific article published on 28 March 2019

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

artículo científico publicado en 2016

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

artículo científico publicado en 2010

Genotypic versus phenotypic methods in the detection of Listeria monocytogenes prosthetic joint infection.

artículo científico publicado en 2009

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing

scientific article published on 19 June 2019

Human native endocarditis caused by Streptococcus canis-a case report

artículo científico publicado en 2019

Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment

artículo científico publicado en 2016

Impact of acceptor splice site NAGTAG motif on exon recognition

artículo científico publicado en 2019

Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency

scientific article published on 11 July 2008

Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

artículo científico publicado en 2020

Monitoring of CD38high expression in peripheral blood CD8+ lymphocytes in patients after kidney transplantation as a marker of cytomegalovirus infection.

artículo científico publicado en 2010

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

artículo científico publicado en 2017

Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.

artículo científico publicado en 2010

Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders

scientific article published on 28 November 2018

Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period

scientific article published on 19 May 2019

No association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer

artículo científico publicado en 2010

No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene

artículo científico publicado en 2011

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay

scientific article published on 12 May 2014

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease

artículo científico publicado en 2020

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

article

One-year outcome following biological or mechanical valve replacement for infective endocarditis

artículo científico publicado en 2014

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) ⬇️

artículo científico publicado en 2018

PCR diagnosis of infectious diseases

artículo científico publicado en 2017

PCSK9 inhibitors - new possibilities in the treatment of hypercholesterolemia: For which patients will be indicated?Czech atherosclerosis society statement

artículo científico publicado en 2016

Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.

artículo científico publicado en 2011

Rapid identification of medically important Candida isolates using high resolution melting analysis

artículo científico publicado en 2015

Remote ischaemic preconditioning in coronary artery bypass surgery: a meta-analysis

artículo científico

Response to Letter Regarding Article, "Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis: A Prospective Study From the International Collaboration on Endocarditis".

artículo científico publicado en 2015

SERPING1 exon 3 splicing variants using alternative acceptor splice sites

scientific article published on 24 January 2019

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology

artículo científico publicado en 2017

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design

artículo científico publicado en 2017

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations ⬇️

artículo científico publicado el 9 de agosto de 2012

Severe familial hypercholesterolemia treatment

artículo científico publicado en 2016

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

artículo científico publicado en 2012

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

artículo científico publicado en 2001

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

artículo científico publicado en 2002

Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition

scientific article published on 08 September 2020

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

artículo científico publicado en 2017

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

artículo científico publicado en 2020

The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery

scientific article published in 2019

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

artículo científico publicado en 2014

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.

artículo científico publicado en 2011

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations

artículo científico publicado en 2012

The variable clinical course of peripartum cardiomyopathy

artículo científico publicado en 2012

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy

artículo científico publicado en 2018

Value of PCR in surgically treated patients with staphylococcal infective endocarditis: a 4-year retrospective study.

artículo científico publicado en 2011

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome

scientific article published on 30 January 2014

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

artículo científico publicado en 2013

X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission

artículo científico publicado en 2013

[Familial hypercholesterolemia in the Czech Republic in 2016]

artículo científico publicado en 2016

Lista de obras de T Freiberger

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Association between low levels of Mannan-binding lectin and markers of autoimmune thyroid disease in pregnancy

Association between surgical indications, operative risk, and clinical outcome in infective endocarditis: a prospective study from the International Collaboration on Endocarditis

Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable immunodeficiency

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype

Biofilm formation, antibiotic susceptibility and RAPD genotypes in Pseudomonas aeruginosa clinical strains isolated from single centre intensive care unit patients

Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.

Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

Detection of Cardiobacterium valvarum in a patient with aortic valve infective endocarditis by broad-range PCR.

Differentiation of Staphylococcus spp. by high-resolution melting analysis.

Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

Early diagnosis of familial hypercholesterolemia in Czech Republic in pursuance of MedPed Project

Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy.

Evaluation of Fluorescent Capillary Electrophoresis for Rapid Identification of Candida Fungal Infections

Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools

Familial hypercholesterolaemia: A global call to arms

First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Genotypic versus phenotypic methods in the detection of Listeria monocytogenes prosthetic joint infection.

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing

Human native endocarditis caused by Streptococcus canis-a case report

Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment

Impact of acceptor splice site NAGTAG motif on exon recognition

Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency

Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

Monitoring of CD38high expression in peripheral blood CD8+ lymphocytes in patients after kidney transplantation as a marker of cytomegalovirus infection.

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.

Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders

Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period

No association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer

No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease

NovelFBN1gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

One-year outcome following biological or mechanical valve replacement for infective endocarditis

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) ⬇️

PCR diagnosis of infectious diseases

PCSK9 inhibitors - new possibilities in the treatment of hypercholesterolemia: For which patients will be indicated?Czech atherosclerosis society statement

Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.

Rapid identification of medically important Candida isolates using high resolution melting analysis

Remote ischaemic preconditioning in coronary artery bypass surgery: a meta-analysis

Response to Letter Regarding Article, "Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis: A Prospective Study From the International Collaboration on Endocarditis".

SERPING1 exon 3 splicing variants using alternative acceptor splice sites

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations ⬇️

Severe familial hypercholesterolemia treatment

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations

The variable clinical course of peripartum cardiomyopathy

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy

Value of PCR in surgically treated patients with staphylococcal infective endocarditis: a 4-year retrospective study.

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission

[Familial hypercholesterolemia in the Czech Republic in 2016]