Frontometaphyseal dysplasia is an X‐linked trait primarily characterized by a skeletal
dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. …

BACKGROUND.: We estimated the prevalence of BRCA1/2 germline mutations in consecutive
ovarian cancers and correlated the mutation status with clinicopathological features. …

Background There is growing evidence from recent studies that atrial natriuretic peptide (ANP)
plays an important part in coronary blood flow regulation and in atherosclerosis. …

Over 85% of osteogenesis imperfecta (OI) cases associates to mutations in procollagen
type I genes (COL1A1 or COL1A2), however, no hot spots were linked to particular clinical …

The aim of this study was to determine the suitability of the comparative genomic hybridization
to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of …

Preimplantation genetic diagnosis (PGD) is well established method for treatment of genetic
problems associated with infertility. Moreover, PGD with next-generation sequencing (NGS) …

Background: Loss of heterozygosity (LOH) of selected regions at chromosomes 3p and 17p
in non-small cell lung cancer (NSCLC) and the association of these abnormalities with major …

The objective of this study was to determine the prevalence of BRCA1 and BRCA2 gene
mutations in unselected ovarian cancer patients, and to analyse clinical and pathological …

Background: The Pl A2 allele of the gene encoding for GPIIIa subunit of the platelet membrane
receptor glycoprotein (GP) IIb/IIIa has been suggested as a significant risk factor for …

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes
indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient …