Anne-Marie Bridoux

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

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

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini et al. · The American Journal of Human Genetics · 2009 · 154 citations · Full text

Biology, Human Ortholog, Genetics +5

Splicing of juvenile and adult tau mRNA variants is regulated by thyroid hormone.

Francesco Aniello, Dominique Couchie, Anne-Marie Bridoux et al. · Proceedings of the National Academy of Sciences · 1991 · 83 citations · Full text

Brain Development, Genetics, Thyroid Hormone Deficiency +17

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

Gaëlle Pennarun, Catherine Chapelin, Estelle Escudier et al. · Human Genetics · 2000 · 48 citations

Medicine, Pathology, Expression Pattern +3