E. Vaillant

发表

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro‐intestinal syndrome

P. Froguel, M. Polak, K. Busiah, 2017, Pediatric diabetes.

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

M. U. Mirza, F. Tamanini, P. Froguel, 2018, Nature Genetics.

Variation in FTO contributes to childhood obesity and severe adult obesity

Beverley Balkau, Philippe Froguel, Sophie Gallina, 2007, Nature Genetics.

Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels

S. Hadjadj, B. Balkau, G. Charpentier, 2015, Journal of Medical Genetics.

1 Disruption of a Novel KLF-p 300-Regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c .331 INS Mutation Found in Neonatal Diabetes Mellitus

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011 .

The unique clinical spectrum of maturity onset diabetes of the young type 3.

M. Vaxillaire, A. Tenenbaum, E. Vaillant, 2018, Diabetes Research and Clinical Practice.

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

P. Froguel, M. Vaxillaire, A. Bonnefond, 2015, PloS one.

A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10

K. Clément, C. Dina, P. Froguel, 1998, Nature Genetics.

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

Inês Barroso, Beverley Balkau, Philippe Froguel, 2012, Nature Genetics.

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

B. Balkau, G. Charpentier, P. Froguel, 2020, Nature Metabolism.

Short Technical Repor t Rapid SNP Allele Frequency Determination in Genomic DNA Pools by Pyrosequencin g

P. Boutin, P. Froguel, V. Vatin, 2002 .

Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study

P. Froguel, M. Vaxillaire, S. Cauchi, 2009, BMC Medical Genetics.

Contribution of Type 2 diabetes associated loci in the Arabic Population from Tunisia and trans-ethnic genetic heterogeneity

P. Froguel, M. Vaxillaire, S. Cauchi, 2008 .

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

P. Froguel, A. Bonnefond, M. Cnop, 2018, Molecular metabolism.

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

P. Froguel, A. Bonnefond, S. Lobbens, 2020, Diabetes.

Low copy number of the salivary amylase gene predisposes to obesity

Johanna C Andersson-Assarsson, Pak Chung Sham, Beverley Balkau, 2014, Nature Genetics.

Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations

B. Balkau, D. Meyre, P. Froguel, 2013, Journal of Molecular Medicine.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

P. Froguel, M. Vaxillaire, A. Bonnefond, 2022, Orphanet Journal of Rare Diseases.

RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.

P. Rorsman, R. Scharfmann, P. Froguel, 2014, Cell reports.

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

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011, The Journal of Biological Chemistry.

Rapid SNP allele frequency determination in genomic DNA pools by pyrosequencing.

P. Boutin, P. Froguel, V. Vatin, 2002, BioTechniques.

A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn’s Disease

P. Froguel, A. Bonnefond, O. Sand, 2018, International journal of molecular sciences.

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

R. Scharfmann, B. Balkau, G. Charpentier, 2019, Nature Medicine.

Glucose-Dependent Regulation of NR2F2 Promoter and Influence of SNP-rs3743462 on Whole Body Insulin Sensitivity

B. Balkau, P. Froguel, M. Vasseur-Cognet, 2012, PloS one.

Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.

T. Hansen, O. Pedersen, K. Clément, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations

F. Horber, B. Balkau, D. Meyre, 2013, Journal of Molecular Medicine.

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis

P. Froguel, A. Bonnefond, B. Villoutreix, 2022, Journal of Medical Genetics.

DETAILED METHODS for negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis”

Alaa, Lennart, A. Bonnefond, 2022 .

Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries.

P. Froguel, M. Vaxillaire, M. Canouil, 2020, Diabetes research and clinical practice.

Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population

B. Balkau, G. Charpentier, D. Meyre, 2013, International Journal of Obesity.

Effect of ENPP1/PC-1-K121Q and PPARgamma-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population.

D. Meyre, P. Froguel, M. Vaxillaire, 2008, Diabetes research and clinical practice.

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

B. Balkau, G. Charpentier, P. Froguel, 2023, The Lancet Diabetes and Endocrinology.

Analysis of KLF transcription factor family gene variants in type 2 diabetes

R. Sladek, B. Balkau, G. Charpentier, 2007, BMC Medical Genetics.