Rémi Dufourcq-Lagelouse

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Susan E. Stepp, Rémi Dufourcq-Lagelouse, Françoise Le Deist et al. · Science · 1999 · 1.2K citations

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Élodie Pastural, Franck J. Barrat, Rémi Dufourcq-Lagelouse et al. · Nature Genetics · 1997 · 456 citations

Myosin-va Gene, Genetic Disorder, Genetics +8

Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity

Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist et al. · The American Journal of Human Genetics · 1999 · 143 citations · Full text

Lymphoid Neoplasia, Familial Hemophagocytic Lymphohistiocytosis, Genetic Epidemiology +6

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

Rémi Dufourcq-Lagelouse, Nathalie Lambert, Michel Duval et al. · European Journal of Human Genetics · 1999 · 65 citations · Full text

Genetic Disorder, Genetics, Pathology +2