L. Tosolini

发表论文 7 篇 · 总被引 391 次 · h-index 4

代表论文

• Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation (2012 · Human Mutation · 被引 132)
• MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. (2014 · American Journal of Human Genetics · 被引 120)
• Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia. (2012 · Atherosclerosis · 被引 104)
• Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm (2020 · Genetics in Medicine · 被引 41)
• [Continuous monitoring of mixed venous saturation during mechanical ventricular assistance in heart surgery]. (1991 · Minerva Anestesiologica · 被引 1)
• 43 NEW GAIN OF FUNCTIONS MUTATIONS IN PCSK9 AND THEIR IMPACT IN FAMILIAL HYPERCHOLESTEROLEMIA (2011)