Publications by authors named "Saint-Onge Judith"
Article Synopsis
- Segmentation defects of the vertebrae (SDV) are linked to various syndromes and involve complex genetic factors, particularly related to the Notch signaling pathway during somitogenesis.
- A study involving 73 patients utilized targeted sequencing on five known SCD-causing genes and whole-exome sequencing (WES) to identify genetic mutations, leading to ten diagnoses, with varying diagnostic yields for the gene panel and WES.
- The findings suggest that targeted sequencing should only be considered for patients who meet specific SCD criteria due to low diagnostic yields, indicating that SDV may involve more intricate genetic mechanisms.
Article Synopsis
- Conradi-Hünermann-Happle syndrome (CDPX2) is a rare X-linked dominant skeletal disorder predominantly affecting females, with severe cases being extremely rare and usually lethal in males.
- A study focused on 9 female fetuses with EBP mutations revealed key ultrasound findings such as bone abnormalities and irregular spinal structure, with a mean diagnosis age of 22 weeks in gestation.
- The results emphasize that prenatal detection of specific skeletal abnormalities can indicate the possibility of CDPX2, as most cases arise from new mutations rather than inherited ones.
Angiotensin I-converting enzyme inhibitors (ACEi), which are used to treat common cardiovascular diseases, are associated with a potentially life-threatening adverse reaction known as angioedema (AE-ACEi). We have previously documented a significant association between AE-ACEi and low plasma aminopeptidase P (APP) activity. With eight large pedigrees, we hereby demonstrate that this quantitative trait is partially regulated by genetic factors.
View Article and Find Full Text PDFPrevious studies have found association and linkage between Tourette syndrome (TS) and markers at the 11q24 region, mainly with markers D11S1377 and D11S933. In order to determine if these positive findings could be replicated in our sample, we undertook a family-based association study in 199 French Canadian TS nuclear families. We genotyped 572 individuals from 174 complete and 25 incomplete TS trios.
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