Bénédicte Duriez

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 394 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Irène Netchine, Marie‐Laure Sobrier, Heiko Krude et al. · Nature Genetics · 2000 · 366 citations

Medicine, Genetics, Molecular Genetics +16

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

Bénédicte Duriez, Philippe Duquesnoy, Estelle Escudier et al. · Proceedings of the National Academy of Sciences · 2007 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations of <b> <i>DNAI1</i> </b> in Primary Ciliary Dyskinesia

Maimoona A. Zariwala, Margaret W. Leigh, Franck Ceppa et al. · American Journal of Respiratory and Critical Care Medicine · 2006 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.

Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez et al. · The EMBO Journal · 1994 · 156 citations · Full text

Life Sciences, Endocrinology, Genetics +17