Nathalie Thibaud
Paris, 75012, France
Last Updated: 09/26/2026
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Found 8 publications
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.
Journal: Clinical epigenetics
Published: September 23, 2025
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Journal: Journal of medical genetics
Published: May 29, 2019
Normal Growth despite Combined Pituitary Hormone Deficiency.
Journal: Hormone research in paediatrics
Published: October 06, 2018
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
Journal: Journal of medical genetics
Published: December 30, 2014
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
Journal: Journal of medical genetics
Published: November 15, 2014
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Journal: Human molecular genetics
Published: June 12, 2014
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Journal: Journal of medical genetics
Published: September 26, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026