Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Florence Roucher-Boulez

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

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

Sort by Publication Date:
|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 <i>CYP11B1</i> 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

Pageof 2

Frequent Collaborators

4 joint publications

Clément Janot

2 joint publications

Véronique Raverot

2 joint publications

Pauline Perrin

2 joint publications

Ingrid Plotton

2 joint publications

Julie Olabe

2 joint publications

Damien Dufour

2 joint publications

Pierre Val

1 joint publications

Françoise Borson-Chazot

1 joint publications

Laurence Faivre

1 joint publications

James J Wilmouth

Frequent Collaborators

4 joint publications

Clément Janot

2 joint publications

Véronique Raverot

2 joint publications

Pauline Perrin

2 joint publications

Ingrid Plotton

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.8K
See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.8K
See more related videos