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Blood|June 10, 2011
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyriaJordi To-Figueras, Sarah Ducamp, Jerome Clayton, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|December 18, 2019
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver DysfunctionCaroline Besnard, Caroline Schmitt, Louise Galmiche-Rolland, et al.
Biochemical and Biophysical Research Communications|October 12, 2019
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria)Thibaud Lefebvre, Sarah Millot, Emmanuel Richard, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Management of erythropoietic protoporphyria with cholestatic liver disease: A case reportAntoine Poli, Camilla Frieri, Thibaud Lefebvre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variantsPauline Arnaud, Olivier Milleron, Nadine Hanna, et al.
Journal of the American College of Cardiology|March 5, 2020
Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan SyndromeOlivier Milleron, Florence Arnoult, Gabriel Delorme, et al.
European Heart Journal. Imaging Methods and Practice|April 13, 2026
New CT-based dural ectasia criteria using machine learning to diagnose Marfan and Loeys-Dietz syndromesClaire Bouleti, Raphael Thuillier, Yoann Moeuf, et al.
Frontiers in Genetics|August 17, 2019
The Genetic Architecture of Chronic Mountain Sickness in PeruSteven Gazal, Jose R Espinoza, Frédéric Austerlitz, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|October 15, 2013
Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in miceConstance Delaby, Vincent Oustric, Caroline Schmitt, et al.
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