Lista de obras -

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes

scientific article published on 11 December 2019

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

artículo científico publicado en 2016

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.

artículo científico publicado en 2016

An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).

artículo científico publicado en 2016

An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome

artículo científico publicado el 1 de enero de 2010

Ancestral mutations may cause a significant proportion of GCK-MODY

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene

artículo científico publicado en 2015

Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome

artículo científico publicado en 2014

Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening

artículo científico publicado en 2020

Endothelial integrity may be regulated by a specific antigen via an IgE-mediated mechanism

artículo científico publicado en 2017

Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period

artículo científico publicado en 2013

Genetic Factors of Diabetes

artículo científico publicado en 2017

HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.

artículo científico publicado en 2011

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level

artículo científico publicado en 2014

Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program.

artículo científico publicado en 2017

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance

artículo científico publicado en 2020

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage

artículo científico publicado en 2020

Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes

scientific article published on 01 January 2011

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

artículo científico publicado en 2011

Retinal thinning as a marker of disease progression in patients with Wolfram syndrome

scientific article published on 01 March 2015

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

artículo científico publicado en 2021

Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

artículo científico publicado en 2017

Serum tumor necrosis factor-α and interleukin-10 levels as markers to predict outcome of patients with chronic lymphocytic leukemia in different risk groups defined by the IGHV mutation status

scientific article published on 04 September 2012

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

artículo científico publicado en 2015

The influence of INS VNTR class III allele on auxological parameters, glucose, insulin, lipids, and adipocytokines secretion in prepubertal children born small for gestational age.

artículo científico publicado en 2016

[Optimization of monogenic diabetes screening programme--initial report on recruitment efficacy of the TEAM project]

artículo científico publicado en 2010

Lista de obras de

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.

An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).

An evaluation of HLA class 2 alleles and anti-islet antibodies as evidence for non-autoimmune diabetes in Wolfram syndrome

Ancestral mutations may cause a significant proportion of GCK-MODY

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene

Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome

Clinical use of NGS data from the targeted gene panel for mitochondrial diseases screening

Endothelial integrity may be regulated by a specific antigen via an IgE-mediated mechanism

Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period

Genetic Factors of Diabetes

HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level

Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage

Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

Retinal thinning as a marker of disease progression in patients with Wolfram syndrome

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing

Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome.

Serum tumor necrosis factor-α and interleukin-10 levels as markers to predict outcome of patients with chronic lymphocytic leukemia in different risk groups defined by the IGHV mutation status

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

The influence of INS VNTR class III allele on auxological parameters, glucose, insulin, lipids, and adipocytokines secretion in prepubertal children born small for gestational age.

[Optimization of monogenic diabetes screening programme--initial report on recruitment efficacy of the TEAM project]