Isabelle Moix

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Yael Shinar, Laura Obici, Ivona Aksentijevich et al. · Annals of the Rheumatic Diseases · 2012 · 198 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production

Laeticia Kolly, Nathalie Busso, Annette von Scheven-Gête et al. · Journal of Allergy and Clinical Immunology · 2012 · 144 citations

Life Sciences, Immunology, Pathobiology +15

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

Isabelle Streuli, Timothée Fraisse, Victoria Ibéchéole et al. · Fertility and Sterility · 2008 · 137 citations · Full text

Medicine, Genetics, Molecular Genetics +10

<i>De novo</i> duplication of <i>MECP2</i> in a girl with mental retardation and no obvious dysmorphic features

Periklis Makrythanasis, Isabelle Moix, S Gimelli et al. · Clinical Genetics · 2010 · 31 citations

Life Sciences, Genetics, Pediatrics +17

Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study

Katerina Theodoropoulou, Helmut Wittkowski, Nathalie Busso et al. · Frontiers in Immunology · 2020 · 26 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17