Author

Júlia Martinková

h-index 2 View on Semantic Scholar

We have 3 of 9 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Review Open access Oct 2026

Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature

46,XX testicular disorder of sex development (DSD), also known as XX male syndrome, is a rare condition where an individual with a 46,XX karyotype develops a male phenotype. In 90% of cases, the syndrome results from the translocation of the SRY gene to the X chromosome or an autosome. The remaining 10% of individu...

Júlia Martinková, Hana Řezáčová, A. Šantavá et al. · Frontiers in Genetics · 0 citations

Case report Open access Sep 2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report

The first report of paternal transmission of the pathogenic NM_004959.5(NR5A1):c.614dup p.(Gln206Thrfs*20) variant to an affected son is presented, thereby expanding the understanding of phenotypic mechanisms, paternal inheritance, and reproductive potential in this disorder.

Júlia Martinková, Michaela Mihulová, Miroslava Balaščáková et al. · Frontiers in Pediatrics · 0 citations

Open access Aug 2026

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

A unique AR deletion identified in a 46,XY female patient with CAIS is described, which segregates in the large CAIS family; it was detected in five affected relatives, while the four remaining family members were asymptomatic carriers.

Júlia Martinková, Andrea Gřegořová, M. Wayhelova et al. · Biomedical papers of the Med... · 0 citations