Philippe Duquesnoy

Mutations in <i>NALP12</i> cause hereditary periodic fever syndromes

Isabelle Jéru, Philippe Duquesnoy, Teresa Fernandes‐Alnemri et al. · Proceedings of the National Academy of Sciences · 2008 · 368 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 345 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene

Serge Amselem, Philippe Duquesnoy, Olivier Attree et al. · New England Journal of Medicine · 1989 · 316 citations

Medicine, Endocrinology, Genetics +17

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 274 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier et al. · Journal of Biological Chemistry · 2000 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12