Publications by authors named "E Lemyre"
Article Synopsis
- - The study aimed to evaluate the effectiveness of combining comparative genomic hybridization and single-nucleotide polymorphism (CGH/SNP) analyses for risk stratification in pediatric acute lymphoblastic leukemia (ALL) compared to traditional cytogenetic methods.
- - Researchers analyzed data from 135 patients aged 1-18 diagnosed with ALL, finding that CGH/SNP had a significantly lower failure rate and faster result turnaround (5.8 days) than conventional karyotyping (10.7 days).
- - CGH/SNP detected crucial gene deletions, particularly ETV6, which was associated with better event-free survival, indicating that CGH/SNP could enhance diagnostic accuracy and prognostic evaluation in pediatric ALL.
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic variants can include whole or partial gene deletions or duplications, point mutations within the coding sequence, and deletions of upstream and downstream regulatory elements.
View Article and Find Full Text PDFArthrogryposis is a clinical feature defined by congenital joint contractures in two or more different body areas which occurs in between 1/3000 and 1/5000 live births. Variants in multiple genes have been associated with distal arthrogryposis syndromes. Heterozygous variants in MYH3 have been identified to cause the dominantly-inherited distal arthrogryposis conditions, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and multiple pterygium syndrome.
View Article and Find Full Text PDFArticle Synopsis
- Genomic copy number variants (CNVs), particularly deletions and duplications, have been linked to cognitive ability, but their specific effects on intelligence are still not fully understood, especially for duplications.
- The study involved analyzing CNVs from over 24,000 individuals and used statistical models to show that deletions decrease intelligence more significantly than duplications, with certain genes being intolerant to haploinsufficiency playing a key role.
- The findings indicate that while a small fraction of genes has a significant negative impact on intelligence, the overall effects on cognition may stem from complex interactions within the genome rather than just a few specific pathways.
The frequency of chromosomal anomalies among fetuses with isolated persistent left superior vena cava (PLSVC) is still debated. The objective of the present study was to assess the prevalence of genetic and morphological anomalies identified in fetuses with PLSVC. We conducted a single-center retrospective study including all fetuses diagnosed with a PLSVC between 2010 and 2017.
View Article and Find Full Text PDF