Jessica Aranda

Functional and Clinical Impact of Novel<i>Tmprss6</i>Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies

Luigia De Falco, Laura Silvestri, Caroline Kannengiesser et al. · Human Mutation · 2014 · 52 citations

Iron Metabolism, Genetics, Genetic Epidemiology +21

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Sara Luscieti, Gabriele Tolle, Jessica Aranda et al. · Orphanet Journal of Rare Diseases · 2013 · 49 citations · Full text

<i>Slc7a9</i>knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

Mariona Font-Llitjós, Lídia Feliubadaló, Meritxell Espino et al. · American Journal of Physiology-Renal Physiology · 2007 · 33 citations

Calculi Quantification, Immunology, Cellular Pharmacology +20

Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3

Ricky S. Joshi, Maya Shvartsman, Erica L. Moran et al. · Molecular Genetics & Genomic Medicine · 2015 · 24 citations · Full text

Hereditary Hemochromatosis, Iron Metabolism, Genetics +19

<scp>FMOD</scp> expression in whole blood aids in distinguishing between chronic lymphocytic leukemia and other leukemic lymphoproliferative disorders. A pilot study

Marc Sorigué, Jordi Juncà, Christelle Ferrá et al. · Cytometry Part B Clinical Cytometry · 2020 · 15 citations · Full text