Showing results (81-90 of 92) with videos related to
Sort By:
Pageof 10
Proceedings of the National Academy of Sciences of the United States of America|September 7, 2017
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyriaYvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, et al.European Journal of Clinical Investigation|March 7, 2025
Mid-regional pro-adrenomedullin: A rapid sepsis biomarker for diagnosing spontaneous bacterial peritonitis in cirrhosisAbderrahim Oussalah, Vincent Haghnejad, Maël Silva Rodriguez, et al.Plos One|March 4, 2017
Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndromeMariane de Montalembert, Jean-Antoine Ribeil, Valentine Brousse, et al.Blood|February 1, 2019
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1Sarah Rio, Marc Gastou, Narjesse Karboul, et al.American Journal of Human Genetics|September 2, 2008
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadSharon D Whatley, Sarah Ducamp, Laurent Gouya, et al.Human Mutation|February 11, 2011
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSarah Ducamp, Caroline Kannengiesser, Mohamed Touati, et al.Gastroenterology|November 20, 2015
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in HumansRaed Daher, Caroline Kannengiesser, Dounia Houamel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2019
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyriasBrenden Chen, Sharon Whatley, Michael Badminton, et al.The New England Journal of Medicine|March 2, 2017
Gene Therapy in a Patient with Sickle Cell DiseaseJean-Antoine Ribeil, Salima Hacein-Bey-Abina, Emmanuel Payen, et al.Science Translational Medicine|July 12, 2019
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndromeSabrina Bondu, Anne-Sophie Alary, Carine Lefèvre, et al.Pageof 10