Patricia Bretones

Groupement Hospitalier Est
Bron, France

Last Updated: 09/26/2026

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Found 20 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

Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center.

Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 27, 2026

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Journal: EClinicalMedicine

Published: March 24, 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

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Journal: European journal of pediatrics

Published: September 10, 2025

Treatment of Transient Hypothyroxinemia of Prematurity Does Not Improve Neurodevelopment at Two Years of Age.

Treatment of Transient Hypothyroxinemia of Prematurity Does Not Improve Neurodevelopment at Two Years of Age.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: November 13, 2024

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

Journal: European journal of endocrinology

Published: September 10, 2024

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

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

Journal: Human reproduction (Oxford, England)

Published: November 14, 2023

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).

Journal: Frontiers in endocrinology

Published: February 22, 2023

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Journal: Endocrine connections

Published: October 18, 2022

Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics.

Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 28, 2022

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

Journal: European journal of endocrinology

Published: June 14, 2022

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Last Updated: 09/26/2026