Lista de obras - Amélie Bonnefond - Dominio Público Uruguay

A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

article

A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.

artículo científico publicado en 2012

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels

artículo científico publicado en 2012

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

artículo científico publicado en 2015

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

artículo científico publicado en 2014

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

artículo científico publicado en 2017

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

artículo científico publicado en 2008

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.

artículo científico publicado en 2013

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

artículo científico publicado en 2013

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Associations Between Type 2 Diabetes-Related Genetic Scores and Metabolic Traits, in Obese and Normal-Weight Youths.

artículo científico publicado en 2016

Associations of vascular endothelial growth factor (VEGF) with adhesion and inflammation molecules in a healthy population

artículo científico publicado en 2012

Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.

artículo científico publicado en 2014

Cdkn2a deficiency promotes adipose tissue browning

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Combined RNAseq and ChIPseq Analyses of the BvgA Virulence Regulator of Bordetella pertussis

scientific article published on 19 May 2020

Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

artículo científico publicado en 2016

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

scientific article published on 27 March 2017

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.

artículo científico publicado en 2011

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go?

artículo científico publicado en 2017

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

artículo científico publicado en 2011

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

scientific journal article

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

artículo científico publicado en 2016

Endoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDL

artículo científico publicado en 2016

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

artículo científico publicado en 2017

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

article

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

artículo científico publicado en 2017

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans

artículo científico publicado en 2009

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

artículo científico publicado en 2012

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.

artículo científico publicado en 2017

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.

artículo científico publicado en 2018

Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

artículo científico publicado en 2010

Genetic evidence of assortative mating in humans

scholarly article

Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits

artículo científico publicado en 2009

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

artículo científico publicado en 2015

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

artículo científico publicado en 2015

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

artículo científico publicado en 2017

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

artículo científico publicado en 2017

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

artículo científico publicado en 2013

Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes

article

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

scientific article published on 05 August 2019

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

artículo científico publicado en 2011

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay

artículo científico publicado en 2014

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

artículo científico publicado en 2017

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

artículo científico publicado en 2016

Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function

artículo científico publicado en 2016

Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes

artículo científico publicado en 2018

Inputs from the genetics of fasting glucose: lessons for diabetes

artículo científico publicado en 2009

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

artículo científico publicado en 2009

Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study

artículo científico publicado en 2016

KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response

artículo científico publicado en 2016

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

artículo científico publicado en 2012

Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes

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

artículo científico publicado en 2018

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

artículo científico publicado en 2013

Low copy number of the salivary amylase gene predisposes to obesity.

artículo científico publicado en 2014

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

artículo científico publicado en 2018

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

artículo científico publicado en 2010

MYEOV is a prognostic factor in multiple myeloma

artículo científico publicado en 2010

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

artículo científico publicado en 2010

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

artículo científico publicado en 2013

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

artículo científico publicado en 2009

NACHO: an R package for quality control of NanoString nCounter data

scientific article published on 01 February 2020

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

artículo científico publicado en 2008

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

artículo científico publicado en 2013

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

artículo científico publicado en 2016

Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck ⬇️

artículo científico publicado el 29 de julio de 2013

Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.

artículo científico publicado en 2013

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

Pluripotent stem cells as a potential tool for disease modelling and cell therapy in diabetes.

artículo científico

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

artículo científico publicado en 2012

Rare and common genetic events in type 2 diabetes: what should biologists know?

artículo científico publicado en 2015

Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.

artículo científico publicado en 2012

Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach

artículo científico publicado en 2017

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

artículo científico publicado en 2013

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

artículo científico publicado en 2017

Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes

artículo científico publicado en 2011

The Difficult Journey from Genome-wide Association Studies to Pathophysiology: The Melatonin Receptor 1B (MT2) Paradigm

artículo científico publicado en 2016

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The Relationship Between Vascular Endothelial Growth Factor Cis- and Trans-Acting Genetic Variants and Metabolic Syndrome

artículo científico publicado en 2018

The case for too little melatonin signalling in increased diabetes risk

artículo científico publicado en 2017

The emerging genetics of type 2 diabetes

artículo científico publicado en 2010

The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward

artículo científico publicado en 2019

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

artículo científico

The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis

artículo científico publicado en 2015

Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family

artículo científico publicado en 2013

Transcriptomic Analysis of Breast Cancer Stem Cells and Development of a pALDH1A1:mNeptune Reporter System for Live Tracking

artículo científico publicado en 2019

Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR study

artículo científico publicado en 2014

Type 2 diabetes–associated variants of the MT2melatonin receptor affect distinct modes of signaling

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

artículo científico publicado en 2015

What is the contribution of two genetic variants regulating VEGF levels to type 2 diabetes risk and to microvascular complications?

artículo científico publicado en 2013

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

artículo científico publicado en 2012

Lista de obras de Amélie Bonnefond

A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease

A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.

A genome-wide association search for type 2 diabetes genes in African Americans

A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

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

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Associations Between Type 2 Diabetes-Related Genetic Scores and Metabolic Traits, in Obese and Normal-Weight Youths.

Associations of vascular endothelial growth factor (VEGF) with adhesion and inflammation molecules in a healthy population

Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children.

Cdkn2a deficiency promotes adipose tissue browning

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

Combined RNAseq and ChIPseq Analyses of the BvgA Virulence Regulator of Bordetella pertussis

Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

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

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

Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.

Directional dominance on stature and cognition in diverse human populations

Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go?

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

Endoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDL

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation.

Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

Genetic evidence of assortative mating in humans

Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function

Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes

Inputs from the genetics of fasting glucose: lessons for diabetes

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study

KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes

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

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

Low copy number of the salivary amylase gene predisposes to obesity.

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans

MYEOV is a prognostic factor in multiple myeloma

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

NACHO: an R package for quality control of NanoString nCounter data

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

New gene functions in megakaryopoiesis and platelet formation

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️