Publications by authors named "N Buzzalino"
Article Synopsis
- 21-hydroxylase deficiency is a leading cause of Congenital Adrenal Hyperplasia and presents in classical (severe) and nonclassical (mild) forms, with different genetic variants affecting patients across populations.
- This study examined the CYP21A2 gene defects in a large group of 628 Argentine patients, detailing genetic variations and their frequency among classical and nonclassical forms, while also analyzing family members and partners.
- Key findings highlighted the frequent variants identified, the correlation between genotype and clinical manifestations, and the identification of rare and novel mutations, contributing to a better understanding of this condition in the studied population.
The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability.
View Article and Find Full Text PDFIn this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics.
View Article and Find Full Text PDFCongenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10⁻30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms.
View Article and Find Full Text PDFArticle Synopsis
- Over 95% of CAH cases are related to steroid 21-hydroxylation issues, which range in severity from classical forms to mild late-onset types.
- The researchers collected 1,340 genetic variants of the CYP21A2 gene, identifying 899 unique variants, 230 of which impact health, and created a database to aid in genetic counseling for affected families.