Radka Kremlíková Pourová
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View article: A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report
A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report Open
Background Hearing loss is a common inborn neurosensory condition. Hearing loss is very heterogeneous, and while screening programs exist for children, adolescents and adults with late-onset hearing loss often do not get referrals to genet…
View article: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Open
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants i…
View article: Axenfeld-Rieger syndrome: more than meets the eye
Axenfeld-Rieger syndrome: more than meets the eye Open
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding i…
View article: Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom Open
View article: Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom Open
View article: Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome Open
In this study evaluating language and speech production and acquisition, patients with Pendred syndrome who underwent cochlear implants show comparable results to their implanted peers with deafness of a different etiology.
View article: The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis Open
Folate deficiency in the critical developmental period has been repeatedly associated with an increased risk of Autism spectrum disorders (ASD), but the key pathophysiological mechanism has not yet been identified. In this work, we focused…
View article: Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Open
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 …
View article: Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages Open
This Article was originally published under Nature Research’s License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.
View article: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages Open
View article: A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature Open
View article: Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers Open
The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size…
View article: Additional file 3: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature
Additional file 3: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature Open
Table S3. Comparison of phenotypes caused by distal 5p tetrasomy, i(5)(p10) and dup5p13.2. (XLS 42Â kb)
View article: Supplementary Material for: Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
Supplementary Material for: Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers Open
he prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size,…
View article: Additional file 2: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature
Additional file 2: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature Open
Table S2. Comparison of clinical features of patients with 5p tetrasomies. (XLS 41Â kb)
View article: Additional file 1: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature
Additional file 1: of A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy â case report and review of the literature Open
Table S1. Detailed description of encompassed genes. (XLS 328Â kb)
View article: Expanded <em>DMPK </em>repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded <em>DMPK </em>repeats at screening of 330 children with autism
Expanded <em>DMPK </em>repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded <em>DMPK </em>repeats at screening of 330 children with autism Open
Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin …