A5060834245- Genomics and Rare Diseases
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Ocular Disorders and Treatments
- Dermatological and Skeletal Disorders
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Epigenetics and DNA Methylation
- Intraocular Surgery and Lenses
- Genomics and Chromatin Dynamics
- Cardiovascular Issues in Pregnancy
- Blood disorders and treatments
- RNA Research and Splicing
- Advanced biosensing and bioanalysis techniques
- Pregnancy and preeclampsia studies
- Aging, Health, and Disability
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- ATP Synthase and ATPases Research
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Renal Diseases and Glomerulopathies
- Skin and Cellular Biology Research
- Erythrocyte Function and Pathophysiology
- Neonatal Health and Biochemistry
Charles University
2012-2020
University Hospital in Motol
2007-2013
University of Oxford
2013
Abstract The 2p15‐p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11‐year‐old female showing clinical features consistent with the carrying de novo 0.45 Mb long deletion of paternally derived 2p16.1 allele. deleted region contains only three protein‐coding RefSeq genes, BCL11A , PAPOLG REL one non‐coding RNA gene...
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, representative cohort of 14 Czech cases with clinical features suggestive KS was analyzed by experienced geneticists collaboration other specialties, and observed disease were evaluated according the 'MLL2-Kabuki score' defined Makrythanasis et al. Subsequently, aforementioned genes Sanger sequenced copy number analysis performed MLPA, followed genome-wide...
Abstract We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in COL2A1 or COL11A1 genes. Using Sanger and next‐generation sequencing, 11 different (seven novel), were identified 13 (19 affected individuals), all diagnosed with Stickler syndrome (STL) type 1. In nine families, disease‐causing variant arose de novo. Phenotypically, we observed myopia (95%) retinal detachment (47%), joint hyperflexibility (92%), midface retrusion (84%), cleft palate...
Microdeletions of 14q22q23 have been associated with eye abnormalities and pituitary defects. Other phenotypic features in deletion carriers including hearing loss response to growth hormone therapy are less well recognized. We studied genotype phenotype three newly identified children deletions, two girls one boy bilateral anophthalmia, compared them previously published patients individuals intragenic defects genes residing the region. The deletions were de novo ranged size between 5.8 8.9...
Mutations in FOXL2 are known to cause autosomal dominant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), variably associated with premature ovarian failure. In this study, we report results of mutational screening a Czech and Slovak patient population BPES.Case series.Thirteen probands one proband origin BPES their available family members.Sanger sequencing multiplex ligation-dependent probe amplification 14 BPES. Targeted first-degree relatives.Genetic characterization...
In contrast to the older teaching that placenta forms an impermeable barrier between mother and her fetus, multiple studies show both intact fetal cells cell-free nucleic acids circulate freely within maternal blood. The pathological processes of abnormal trophoblast invasion, increased apoptosis cells, placental ischemia are all associated with release specific molecules. These proteins might be detected quantified in peripheral circulation. We present a case secundiparous women history...
To analyse the diagnosis, course of pregnancy and outcome euploid fetuses affected by complete atrioventricular septal defect. A short one year series. Atrioventricular defect (ASVD) is commonest prenatally diagnosed congenital heart defects (CHD). The diagnosis based on visualization four-chamber view since this demonstrates crux haert. Especially in cases uncomplicated cardiac anatomy it significantly associated with presence karyotype abnormality, mostly Down syndrome. In normal ASVD...