Publications by authors named "D Gieruszczak-Bialek"
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum.
View Article and Find Full Text PDFCongenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly.
View Article and Find Full Text PDFArticle Synopsis
- 4H leukodystrophy is an autosomal recessive disorder linked to hypomyelination and several endocrine issues, caused by mutations in genes like POLR3A and POLR3B.
- The study involved 150 patients and aimed to systematically assess their endocrine and growth abnormalities while exploring potential genotype/phenotype links.
- Findings revealed that delayed puberty and short stature are common in these patients, highlighting a need for more thorough investigation of endocrine problems in this group.
Neurodevelopment has been linked, among other factors, to maternal and early infant diets. The objective of this review, which is part of the NUTRIMENTHE research project 'The effect of diet on the mental performance of children' (www.nutrimenthe.
View Article and Find Full Text PDF