Brigitte Nedelec
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Journal: American journal of human genetics
Published: January 12, 2024
Congenital Microcoria: Clinical Features and Molecular Genetics.
Journal: Genes
Published: March 10, 2021
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Journal: Human genetics
Published: February 09, 2019
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
Journal: Blood
Published: July 13, 2017
Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.
Journal: American journal of ophthalmology
Published: June 03, 2015
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.
Journal: Nature communications
Published: June 01, 2015
De novo splice mutation in the versican gene in a family with Wagner syndrome.
Journal: JAMA ophthalmology
Published: April 11, 2013
A family with Wagner syndrome with uveitis and a new versican mutation.
Journal: Molecular vision
Published: March 12, 2013
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
Journal: The New England journal of medicine
Published: June 15, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026