Publications by authors named "Nina Wieczorek-Cichecka"
Article Synopsis
- Autism spectrum disorders (ASDs) are diverse neurodevelopmental disorders marked by challenges in social communication and repetitive behaviors, with various genetic factors, especially copy number variants (CNVs), believed to play a significant role in their development.
- A study involving 180 patients aged 2 to 17 analyzed genomic samples using advanced aCGH technology, uncovering nine pathogenic and six likely pathogenic imbalances, alongside 20 variants of uncertain significance, particularly noting more prevalent variants in patients with additional clinical features.
- The findings emphasize the importance of using enhanced microarray techniques for accurate ASD diagnostics, as 12 detected variants, some likely pathogenic, were missed with standard microarray methods, indicating a
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the and genes.
View Article and Find Full Text PDFCranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants in genes encoding components of the ciliary transport machinery are known to cause CED.
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