Cecile Martin-Saint

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 42 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

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

Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery.

Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 22, 2026

Co-occurrence of Loss-of-Function GCK and ABCC8 Variants in a Pedigree With a Spectrum of Dysglycemia.

Co-occurrence of Loss-of-Function GCK and ABCC8 Variants in a Pedigree With a Spectrum of Dysglycemia.

Journal: Diabetes

Published: December 05, 2025

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

Journal: International journal of molecular sciences

Published: November 18, 2025

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).

Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).

Journal: Orphanet journal of rare diseases

Published: October 29, 2025

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 07, 2024

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Journal: Genome medicine

Published: September 03, 2024

Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities.

Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities.

Journal: Diabetologia

Published: July 18, 2024

Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.

Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.

Journal: Frontiers in endocrinology

Published: March 27, 2024

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Journal: JCI insight

Published: September 28, 2023

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Journal: Human mutation

Published: June 18, 2023

Showing 1-12 of 42

Last Updated: 09/26/2026