Pavlina Capkova

Olomouc, Czech Republic

Last Updated: 09/26/2026

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Found 11 publications

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill Dyschondrosteosis.

Journal: American journal of medical genetics. Part A
Published: May 15, 2025

Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis.

Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis.

Journal: Ceska gynekologie
Published: June 21, 2023

Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.

Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.

Journal: Gene
Published: June 01, 2023

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.

Journal: Gene
Published: September 03, 2021

MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.

MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: November 16, 2020

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.

Journal: Molecular genetics & genomic medicine
Published: May 22, 2020

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Journal: PeerJ
Published: January 08, 2020

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.

Journal: PeerJ
Published: June 16, 2019

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.

Journal: PeerJ
Published: June 10, 2018

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Journal: Molecular cytogenetics
Published: November 06, 2017

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: May 09, 2013
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Last Updated: 09/26/2026