Delphine Prunier-Mirebeau

Angers, France

Last Updated: 09/26/2026

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Found 59 publications

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion.

Journal: Ophthalmology science

Published: February 13, 2026

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.

Journal: Scientific data

Published: July 02, 2025

Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer.

Machine learning-assisted quantitative metabolomics of West African patients with advanced breast cancer.

Journal: Scientific reports

Published: February 19, 2025

Natural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE).

Natural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE).

Journal: Annales d'endocrinologie

Published: September 06, 2024

A Metabolomic Signature of Ischemic Stroke Showing Acute Oxidative and Energetic Stress.

A Metabolomic Signature of Ischemic Stroke Showing Acute Oxidative and Energetic Stress.

Journal: Antioxidants (Basel, Switzerland)

Published: October 26, 2023

Rapid haemoglobin A and S quantification using Tosoh HLC-723G8 in variant mode for patients with sickle cell disease.

Rapid haemoglobin A and S quantification using Tosoh HLC-723G8 in variant mode for patients with sickle cell disease.

Journal: Biomedical chromatography : BMC

Published: October 12, 2023

Breast Cancer Chemoresistance: Insights into the Regulatory Role of lncRNA.

Breast Cancer Chemoresistance: Insights into the Regulatory Role of lncRNA.

Journal: International journal of molecular sciences

Published: September 26, 2023

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

Kynurenic Acid: A Novel Player in Cardioprotection against Myocardial Ischemia/Reperfusion Injuries.

Kynurenic Acid: A Novel Player in Cardioprotection against Myocardial Ischemia/Reperfusion Injuries.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: August 22, 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

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.

Journal: Frontiers in neurology

Published: July 25, 2023

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma.

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma.

Journal: Thyroid : official journal of the American Thyroid Association

Published: July 19, 2023

Showing 1-12 of 59

Last Updated: 09/26/2026