Publications by authors named "Julia Fabian"
Article Synopsis
- - Anorectal malformations (ARM) are rare developmental issues linked to problems in the embryonic hindgut, often associated with genetic syndromes or other congenital anomalies; about 60% of cases fall into this category.
- - The study is the largest of its kind, examining the role of copy number variations (CNVs) in ARM by comparing 450 affected individuals with 4,392 healthy controls, using advanced genetic analysis techniques.
- - Four microscopic chromosomal anomalies and nine submicroscopic CNVs were found, suggesting potential candidate genes (FOXK2, LPP, and SALL3) involved in ARM development, indicating that further research and gene analysis are needed.
Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs.
View Article and Find Full Text PDFIntroduction: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development.
View Article and Find Full Text PDFBackground: The Synergy between Percutaneous Coronary Intervention with TAXUS and Cardiac Surgery (SYNTAX)-score is a validated tool for risk stratification and revascularization strategy selection in patients with complex coronary artery disease. The aim of this study was to analyse its age-related prognostic value.
Methods: SYNTAX-score was calculated in 1331 all-comer patients undergoing percutaneous coronary intervention (PCI): 463 patients ≥ 75 years and 868 patients < 75 years.