Martina Putzova

Pilsen, PL, Czech Republic

Last Updated: 09/26/2026

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Found 15 publications

Correction to: Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC.

Correction to: Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC.

Journal: Virchows Archiv : an international journal of pathology

Published: April 19, 2024

Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC.

Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC.

Journal: Virchows Archiv : an international journal of pathology

Published: December 03, 2023

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Journal: Frontiers in medicine

Published: October 11, 2023

Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer.

Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer.

Journal: Virchows Archiv : an international journal of pathology

Published: July 01, 2020

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.

Journal: Folia biologica

Published: January 01, 2020

Novel insights into the mixed germ cell-sex cord stromal tumor of the testis: detection of chromosomal aneuploidy and further morphological evidence supporting the neoplastic nature of the germ cell component.

Novel insights into the mixed germ cell-sex cord stromal tumor of the testis: detection of chromosomal aneuploidy and further morphological evidence supporting the neoplastic nature of the germ cell component.

Journal: Virchows Archiv : an international journal of pathology

Published: October 03, 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

Journal: Investigative ophthalmology & visual science

Published: July 20, 2019

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.

Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.

Journal: American journal of medical genetics. Part A

Published: April 23, 2019

Targeted treatment of metastatic melanoma in a drug-addicted patient with pre-existing hepatitis C.

Targeted treatment of metastatic melanoma in a drug-addicted patient with pre-existing hepatitis C.

Journal: Dermatologic therapy

Published: December 17, 2017

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Journal: Journal of human genetics

Published: April 29, 2017

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

Journal: Medicina clinica

Published: January 09, 2017

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Journal: Journal of human genetics

Published: January 06, 2016

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Last Updated: 09/26/2026