Martina Pecimonova
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View article: Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal Melanoma
Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal Melanoma Open
Although MLPA effectively identifies CNVs relevant to UM prognosis, integrating additional methylation-specific approaches could broaden the scope of DNA methylation analysis, offering a more comprehensive molecular understanding of UM tha…
View article: Uncovering accurate prognostic markers for high‐risk uveal melanoma through DNA methylation profiling
Uncovering accurate prognostic markers for high‐risk uveal melanoma through DNA methylation profiling Open
DEAR EDITOR Uveal melanoma (UM) is a rare, aggressive cancer with limited treatment options. Despite significant advancements in understanding its genetic background,1, 2 the precise contribution of epigenomic alterations to the pathogenes…
View article: DNA methylation aberrancy is a reliable prognostic tool in uveal melanoma
DNA methylation aberrancy is a reliable prognostic tool in uveal melanoma Open
Background: Despite outstanding advances in understanding the genetic background of uveal melanoma (UM) development and prognosis, the role of DNA methylation reprogramming remains elusive. This study aims to clarify the extent of DNA meth…
View article: Aberrant DNA methylation of uveal melanoma drivers as an excellent prognostic tool
Aberrant DNA methylation of uveal melanoma drivers as an excellent prognostic tool Open
Background: Despite outstanding advances in understanding the genetic background of uveal melanoma (UM) development and prognosis, the role of DNA methylation reprogramming remains elusive. This study aims to clarify the extent of DNA meth…
View article: Admixed phenotype of NEDD4L associated periventricular nodular heterotopia
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia Open
Rationale: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene. Patient conce…
View article: Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase Open
The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the ident…
View article: Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase Open
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are a group of genetic disorders predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene. To date, more than 950 variants have been identified, however the pathoge…