Anne Lienhardt-Roussie

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 974 citations

Transcriptional Regulation, Developmental Biology, Genetic Disorder +7

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Catherine Dodé, Luís Teixeira, Jacqueline Levilliers et al. · PLoS Genetics · 2006 · 451 citations · Full text

Kallmann Syndrome Combines, Human Growth, Genetics +21

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

Julie Sarfati, Anne Guiochon‐Mantel, Philippe Rondard et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 145 citations

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Walid Abi Habib, Frédéric Brioude, Thomas Édouard et al. · Genetics in Medicine · 2017 · 129 citations · Full text

Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier

Véronique Tardy, Rita Menassa, V. Sulmont et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 71 citations · Full text