41 results on '"Dechaume, Aurélie"'
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2. Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas
3. Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine
4. Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
5. Pathogenic, total loss-of-function DYRK1B variants cause monogenic obesity associated with type 2 diabetes
6. Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas
7. Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: lessons for precision medicine
8. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
9. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension
10. Low copy number of the salivary amylase gene predisposes to obesity
11. Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.
12. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
13. Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children
14. Dominant negative mutation in oxalate transporterSLC26A6associated with enteric hyperoxaluria and nephrolithiasis
15. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis.
16. Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations
17. Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations
18. Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention
19. The Common P446L Polymorphism in GCKR Inversely Modulates Fasting Glucose and Triglyceride Levels and Reduces Type 2 Diabetes Risk in the DESIR Prospective General French Population
20. Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy: A Report From the French ND (Neonatal Diabetes) Study Group
21. New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features
22. EIF4A2 Is a Positional Candidate Gene at the 3q27 Locus Linked to Type 2 Diabetes in French Families
23. Genetic Analysis of ADIPOR1 and ADIPOR2 Candidate Polymorphisms for Type 2 Diabetes in the Caucasian Population
24. Dominant negative mutation in oxalate transporter SLC26A6associated with enteric hyperoxaluria and nephrolithiasis
25. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study
26. Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
27. Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach
28. What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?
29. Loss-of-function mutations in MRAP2are pathogenic in hyperphagic obesity with hyperglycemia and hypertension
30. Heterozygous pathogenic variants in POMCare not responsible for monogenic obesity: Implication for MC4R agonist use
31. Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children
32. Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay
33. What Is the Contribution of Two Genetic Variants Regulating VEGF Levels to Type 2 Diabetes Risk and to Microvascular Complications?
34. Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
35. A Genome-Wide Association Study Identifies rs2000999 as a Strong Genetic Determinant of Circulating Haptoglobin Levels
36. Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus
37. Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention
38. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study
39. Analysis of common PTPN1gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
40. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
41. Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population.
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