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Diabetes|September 24, 2021
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic PresentationsCécile Saint-Martin, Delphine Bouvet, Mathilda Bastide, et al.
Canadian Journal of Diabetes|April 23, 2016
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?José Timsit, Cécile Saint-Martin, Danièle Dubois-Laforgue, et al.
Seminars in Pediatric Surgery|December 28, 2010
KATP channel mutations in congenital hyperinsulinismCécile Saint-Martin, Jean-Baptiste Arnoux, Pascale de Lonlay, et al.
Metabolites|September 23, 2022
Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited <i>ABCC8</i> VariantEmmanuelle Motte-Signoret, Cécile Saint-Martin, Christine Bellané-Chantelot, et al.
Frontiers in Endocrinology|January 24, 2022
Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and ChallengesJosé Timsit, Cécile Ciangura, Danièle Dubois-Laforgue, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 4, 2021
Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxideJustine Descamps, Cyril Ruello, Kevin Perge, et al.
Diabetes Care|April 20, 2017
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular DefectsDanièle Dubois-Laforgue, Erika Cornu, Cécile Saint-Martin, et al.
Human Mutation|April 14, 2025
Evaluation in Monogenic Diabetes of the Impact of <i>GCK</i>, <i>HNF1A</i>, and <i>HNF4A</i> Variants on Splicing through the Combined Use of In Silico Tools and Minigene AssaysDelphine Bouvet, Amélie Blondel, Jean-Madeleine de Sainte Agathe, et al.
Diabetes|April 17, 2026
Co-occurrence of Loss-of-Function GCK and ABCC8 Variants in a Pedigree With a Spectrum of DysglycemiaCécile Saint-Martin, Assmaa ElSheikh, Sophie Jacqueminet, et al.
BMC Medicine|July 12, 2019
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysisXavier Donath, Cécile Saint-Martin, Danièle Dubois-Laforgue, et al.
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