Karolina Gadzalska
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View article: Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant of the AAAS gene
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant of the AAAS gene Open
Allgrove syndrome is a rare, multisystem, autosomal recessive disorder characterized by the triad of symptoms: achalasia, alacrimia and ACTH-resistant adrenal insufficiency. Various and nonspecific neurological symptoms can also develop ov…
View article: Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations Open
Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations w…
View article: Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-up
Mitochondrial pathogenic variants in Whole Exome Sequencing data: from screening to diagnosis and follow-up Open
Mutations in mitochondrial DNA play a crucial role in several diseases, but interpreting the clinical significance of mitochondrial DNA variants is challenging due to heteroplasmy, age-related loss of variants and evolving phenotypes. The …
View article: Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report
Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report Open
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes characterized by hyperglycemia that remits during infancy with a tendency to recur in later life. This case report presents the history of…
View article: Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype
Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype Open
Variations in several nuclear genes predisposing humans to the development of MODY diabetes have been very well characterized by modern genetic diagnostics. However, recent reports indicate that variants in the mtDNA genome may also be ass…
View article: Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients
Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients Open
View article: Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families Open
View article: Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes
Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes Open