Publications by authors named "Isabela M P O Rizzo"
Article Synopsis
- - Congenital disorders of glycosylation type 1 (CDG-I) are genetic conditions involving 27 defects that mostly result in vague neurological issues, with a key biochemical sign being the lack of complete N-glycans found on transferrin.
- - Researchers used high-resolution mass spectrometry to analyze plasma N-glycans in 111 CDG-I patients and identified specific glycan markers for certain types of CDG, including a novel N-tetrasaccharide for ALG1-CDG.
- - Combining glycomics profiling with sequencing of candidate genes using single-molecule molecular inversion probes (smMIPs) successfully solved 78% of previously unsolved cases, showcasing an effective method for identifying
Article Synopsis
- A patient with ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome was found to have a deletion on chromosome 19q13.11 after long-term monitoring.
- Researchers recommend that individuals diagnosed with EEC should be tested for this specific microdeletion.
- The study suggests that certain genetic elements should be included in testing to cover a minimal overlapping region related to the microdeletion.
Background: Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%-90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between populations.
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