2 documents found, page 1 of 1
Advancements in risk stratification and management strategies in primary cardio...
Barkas, Fotios; Sener, Yusuf Ziya; Golforoush, Pelin Arabacilar; Kheirkhah, Azin; Rodriguez-Sanchez, Elena; Novak, Jan; Apellaniz-Ruiz, MariaAtherosclerotic cardiovascular disease (ASCVD) remains a leading cause of morbidity and mortality worldwide, highlighting the urgent need for advancements in risk ssessment and management strategies. Although significant progress has been made ecently, identifying and managing apparently healthy individuals at a higher risk of developing atherosclerosis and those with subclinical atherosclerosis still poses sig...
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a Eur...
Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; Rimbert, AntoineHereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different laboratories. We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2...