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Author Details

Jérôme Delplanque
2000
33
27
PMIDPaper TitleJournal TitlePublished Year
24890885A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.International Journal of Obesity2015
25070513TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.Brain2014
24984282Placental antiangiogenic prolactin fragments are increased in human and rat maternal diabetes.2014
22238593A genome-wide association search for type 2 diabetes genes in African Americans.PLoS One2012
22701567Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.PLoS ONE2012
22479202Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.PLoS Genet2012
21720444Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population.2012
20421936Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.PLoS Genet2010
21049026Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.PLoS One2010
20010834Genome-wide association study identifies five loci associated with lung function.Nat Genet2010
20081858New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.Nat Genet2010
20081857Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.Nat Genet2010
19060909A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.Nature Genetics2009
19046915Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.Diabetes and Metabolism2009
19300429A rare variant in the visfatin gene (NAMPT/PBEF1) is associated with protection from obesity.Obesity2009
19151714Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.Nat Genet2009
18177861Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.Experimental Neurology2008
20054193Evaluating the association of FAAH common gene variation with childhood, adult severe obesity and type 2 diabetes in the French population.Obesity Facts2008
18461161Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.PLoS One2008
18375449Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations.Human Molecular Genetics2008
18418688Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).Cerebellum2008
18325910Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.Hum Mol Genet2008
18325908R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population.Human Molecular Genetics2008
17668382Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.Am J Hum Genet2007
17496892Variation in FTO contributes to childhood obesity and severe adult obesity.Nature Genetics2007
14988267A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2.Diabetes2004
15331600Tissue distribution and evolution of fructosamine 3-kinase and fructosamine 3-kinase-related protein.Journal of Biological Chemistry2004
12739015Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians.Diabetologia2003
12740599Islet-brain1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease.Mol Psychiatry2003
12165561A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.Human Molecular Genetics2002
11836334Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.J Clin Endocrinol Metab2002
10700186The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.Nat Genet2000
11151766Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families.Diabetologia2000
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