Frederique Savagner

Toulouse, France

Last Updated: 09/26/2026

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Found 35 publications

Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants.

Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants.

Journal: Journal of dental research

Published: August 31, 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: May 08, 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

Iron and energy metabolic interactions in Treg-mediated immune regulation.

Iron and energy metabolic interactions in Treg-mediated immune regulation.

Journal: Frontiers in immunology

Published: January 02, 2025

Atypical thyroid manifestation in Cowden disease: a case report and literature review.

Atypical thyroid manifestation in Cowden disease: a case report and literature review.

Journal: Frontiers in pediatrics

Published: September 21, 2024

Metabolic conditioning enhances human bmMSC therapy of doxorubicin-induced heart failure.

Metabolic conditioning enhances human bmMSC therapy of doxorubicin-induced heart failure.

Journal: Stem cells (Dayton, Ohio)

Published: February 20, 2024

Evaluation of a blood miRNA/mRNA signature to follow-up Lu-PRRT therapy for G1/G2 intestinal neuroendocrine tumors.

Evaluation of a blood miRNA/mRNA signature to follow-up Lu-PRRT therapy for G1/G2 intestinal neuroendocrine tumors.

Journal: Frontiers in endocrinology

Published: February 11, 2024

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 11, 2023

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.

Journal: Journal of medical genetics

Published: July 31, 2023

DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

Journal: Frontiers in pediatrics

Published: January 24, 2023

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.

Journal: International journal of molecular sciences

Published: July 04, 2022

Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.

Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.

Journal: Endocrine-related cancer

Published: February 20, 2022

Showing 1-12 of 35

Last Updated: 09/26/2026