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 · 393 citations · Full text

Mendelian Disorder, Genetics, Pathogenesis +6

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

Pituitary Gland, Endocrine Disease, Human Growth +9

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 · 191 citations · Full text

Disease Mechanism, Genetic Disorder, Genetics +12

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 · 187 citations · Full text

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

Receptor Homodimerization, Signal Transduction, Growth Hormone +11