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Annick Mosser

French Institute of Health and Medical Research

16

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379

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Targeted high-throughput sequencing for the routine diagnosis of somatic theranostic mutations on formalin-fixed, paraffin-embedded FFPE tumor samples: A prospective study of 3366 cancer samples.

2015 Journal of Clinical Oncology
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Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype

2013 Human Mutation
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Sex and acquired cofactors determine phenotypes of ferroportin disease.

2011 Gastroenterology
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A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload

2011 Blood Cells Molecules and Diseases
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CA 35 - EXPRESSION DE L'HEPCIDINE AU COURS DE LA SURCHARGE EN FER PAR MUTATION DU GÈNE DE LA FERROPORTINE (HÉMOCHROMATOSE DE TYPE 4) : UNE ÉTUDE DE 16 CAS

2008 Gastroenterologie Clinique Et Biologique
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BILINGÜISMO Y TRASTORNOS DEL LENGUAJE EN EL NIÑO : ESTUDIO RETROSPECTIVO

2008
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Physiopathologie etgntique del'hmochromatose HFE detype 1

2007 Presse Medicale
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Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

2007 American Journal of Human Genetics
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