A Baxová
YOU?
Author Swipe
View article: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Open
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B / H3F3B ) [1–4]. This syndrome is characterized…
View article: Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene Open
Dominantly inherited mutations in COMP gene encoding cartilage oligomeric matrix protein may cause two dwarfing skeletal dysplasias, milder multiple epiphyseal dysplasia (MED) and more severe pseudoachondroplasia (PSACH). We studied the ph…
View article: Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene Open
Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80 , DYNC2H1 , TTC21B and WDR19 have been fo…
View article: Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease – a case report Open
Here, we present a first case of bilineal ADPKD inheritance in the Czech Republic. This report highlights the significant role of modifier genes in genetic determination of ADPKD, especially in connection with seriously deteriorated diseas…
View article: The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families Open
Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, short…
View article: OP05.04: Non‐invasive diagnosis of <scp>RhD</scp> status and fetal gender from maternal plasma: our results from years 2008 to 2014
OP05.04: Non‐invasive diagnosis of <span>RhD</span> status and fetal gender from maternal plasma: our results from years 2008 to 2014 Open
The aim of the study was to perform non-invasive prenatal detection of fetal RhD gene (RHD) from plasma of RhD-negative pregnant women to detect RhD materno-fetal incompatibility together with fetal sex. We tested 354 plasma samples of RhD…
View article: Genetic Variations in NADPH-CYP450 Oxidoreductase in a Czech Slavic Cohort
Genetic Variations in NADPH-CYP450 Oxidoreductase in a Czech Slavic Cohort Open
New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYP450s…
View article: Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Open
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target ester…