Florence Roucher-Boulez

8PUBLICATIONS
25CO-AUTHORS
Developmental genetics (incl. sex determination)ReproductionProcess control and simulationMolecular targetsNeonatology
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Publications (8)

|Aug 19, 2025
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

Clément Janot, Delphine Mallet, Alexandre Janin

|Aug 17, 2025
First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked.

Clément Janot, Kahina Mohammedi, Delphine Mallet

|Apr 08, 2024
Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia ».

Clément Janot, Anne Bachelot, Delphine Mallet

|Mar 21, 2024
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds.

Clément Janot, Pauline Perrin, Véronique Raverot

|Dec 21, 2022
Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice.

Damien Dufour, Typhanie Dumontet, Isabelle Sahut-Barnola

|Oct 14, 2022
Sexually dimorphic activation of innate antitumor immunity prevents adrenocortical carcinoma development.

James J Wilmouth, Julie Olabe, Diana Garcia-Garcia

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