Nicolas De Roux

Paris, France

Last Updated: 09/26/2026

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Found 33 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Annotating rare variants: A challenge that has not been completely resolved.

Annotating rare variants: A challenge that has not been completely resolved.

Journal: Annales d'endocrinologie

Published: March 22, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Alterations of anti-SARS-CoV-2 immune response in children vary according to the nature of their immunosuppression.

Alterations of anti-SARS-CoV-2 immune response in children vary according to the nature of their immunosuppression.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: November 24, 2025

MKRN3 Variants in Central Precocious Puberty as an Example of the Complexity to Classify Missense Variants in Imprinted Genes as Pathogenic.

MKRN3 Variants in Central Precocious Puberty as an Example of the Complexity to Classify Missense Variants in Imprinted Genes as Pathogenic.

Journal: Hormone research in paediatrics

Published: August 05, 2025

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.

Journal: Acta neuropathologica communications

Published: July 10, 2025

Plasma from heparinate lithium tube with separator gel allows measurement of a large panel of automated biochemical and hormonal parameters

Plasma from heparinate lithium tube with separator gel allows measurement of a large panel of automated biochemical and hormonal parameters

Journal: Annales de biologie clinique

Published: February 03, 2025

Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.

Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 11, 2021

Response to Letter to the Editor from De Zegher and Ibanes: On the rising incidence of early breast development.

Response to Letter to the Editor from De Zegher and Ibanes: On the rising incidence of early breast development.

Journal: European journal of endocrinology

Published: April 28, 2021

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: December 09, 2020

Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism.

Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism.

Journal: European journal of endocrinology

Published: November 13, 2020

Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center.

Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center.

Journal: European journal of endocrinology

Published: July 28, 2020

Showing 1-12 of 33

Last Updated: 09/26/2026