Lista de obras - Santos JL - Dominio Público Uruguay

-rs12536657 and Ocular Biometric Parameters in Hyperopic Children, Emmetropic Adolescents, and Young Adults: A Multicenter Quantitative Trait Study

artículo científico publicado en 2019

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

artículo científico publicado en 2002

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

artículo científico publicado en 2012

Adiposity and bone mineral density of Chilean elderly women in relation to toll-like receptor 4 gene polymorphisms

article

Allelic variants of melanocortin 3 receptor gene (MC3R) and weight loss in obesity: a randomised trial of hypo-energetic high- versus low-fat diets

artículo científico publicado en 2011

Anthropometric measurements in the elderly population of Santiago, Chile

scientific article published on 01 May 2004

Apolipoprotein E polymorphism in elderly Chilean people with Alzheimer's disease.

artículo científico publicado en 1999

Applicability of the case-parent design in the etiological research of Type 1 diabetes in Chile and other genetically mixed populations

scientific article published on 01 February 1999

Assessment of the Role of Metabolic Determinants on the Relationship between Insulin Sensitivity and Secretion

artículo científico publicado en 2016

Association between 10 microsatellite markers and nonsyndromic cleft lip palate in the Chilean population.

artículo científico publicado en 2004

Association between HLA-DQB1 alleles and type 1 diabetes in a case-parents study conducted in Santiago, Chile

artículo científico publicado en 2001

Association between TGFB3 and nonsyndromic cleft lip with or without cleft palate in a Chilean population

scientific article published on 01 September 2010

Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population.

artículo científico publicado en 2010

Association between eating behavior scores and obesity in Chilean children.

artículo científico publicado en 2011

Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study

artículo científico publicado en 2009

Association between obesity and insulin resistance with UCP2–UCP3 gene variants in Spanish children and adolescents

article

Associations between HLA-DQB1 high-risk alleles and type I diabetes do not depend on cytomegalovirus antibody status at onset: a case-parent study conducted in Chile

scientific article published on 01 June 2000

Associations of the CTLA-4 polymorphisms with type 1 diabetes in a Chilean population: case-parent design

article

Characterization of new microsatellite markers derived from sequence databases for the emu (Dromaius novaehollandiae).

artículo científico publicado en 2008

Childhood obesity and eating behaviour.

artículo científico publicado en 2015

Clinical utility of fluorometric scanning of plasma porphyrins for the diagnosis and typing of porphyrias

scientific article published on 01 March 1993

Copy number polymorphism of the salivary amylase gene: implications in human nutrition research.

artículo científico publicado en 2012

Correlation between levels of free and protein-bound plasma porphyrin and urinary porphyrins in porphyria cutanea tarda

artículo científico publicado en 1995

Development and assessment of the disposition index based on the oral glucose tolerance test in subjects with different glycaemic status.

artículo científico publicado en 2015

Direct Relationship Between Metabolic Flexibility Measured During Glucose Clamp and Prolonged Fast in Men

scientific article published on 05 May 2020

Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

artículo científico publicado en 2014

Does weight loss prognosis depend on genetic make-up?

artículo científico publicado en 2005

Duration of breast feeding and bovine serum albumin antibody levels in type 1 diabetes: a case-control study

scientific article published on 01 December 2003

Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy

artículo científico publicado en 2020

Effect of the melanocortin-3 receptor Thr6Lys and Val81Ile genetic variants on body composition and substrate oxidation in Chilean obese children

artículo científico publicado en 2011

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

artículo científico publicado en 2015

FABP2 Ala54Thr polymorphism and diabetes in Chilean elders.

artículo científico publicado en 2007

Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.

scientific article published on 20 February 2013

Fluoxetine impairs insulin secretion without modifying extracellular serotonin levels in MIN6 β-cells

artículo científico publicado en 2015

Fructose, Omega 3 Fatty Acids, and Vitamin E: Involvement in Pediatric Non-Alcoholic Fatty Liver Disease

artículo científico publicado en 2020

GOCS cohort: children's eating behavior scores and BMI.

artículo científico publicado en 2016

Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study

scientific article published on 30 December 2020

Genotype-by-nutrient interactions assessed in European obese women

artículo científico publicado en 2006

Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalised Nutrition: Part 1 - Fields of Precision Nutrition

artículo científico publicado en 2016

Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes

artículo científico publicado en 2003

Increasing incidence of type 1 diabetes in population from Santiago of Chile: trends in a period of 18 years (1986-2003)

artículo científico publicado en 2006

Insights about weight loss-induced metabolic adaptation

artículo científico publicado en 2016

Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of insulin receptor substrate-1 in response to a high-glycemic or low-glycemic carbohydrate load.

artículo científico publicado en 2004

Interactions between Starch, Lipids, and Proteins in Foods: Microstructure Control for Glycemic Response Modulation

artículo científico

Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile.

artículo científico publicado en 2006

Leptin/Adiponectin Ratios Using Either Total Or High-Molecular-Weight Adiponectin as Biomarkers of Systemic Insulin Sensitivity in Normoglycemic Women

artículo científico publicado en 2017

Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population.

artículo científico publicado en 2008

Low prevalence of type 2 diabetes despite a high average body mass index in the Aymara natives from Chile

artículo científico publicado en 2001

Maternal anthropometry and feeding behavior toward preschool children: association with childhood body mass index in an observational study of Chilean families

artículo científico publicado en 2009

Maternal hypertriglyceridemia: A link between maternal overweight-obesity and macrosomia in gestational diabetes

artículo científico publicado en 2014

Melanocortin-3 receptor gene variants: association with childhood obesity and eating behavior in Chilean families

artículo científico publicado en 2010

Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults

artículo científico publicado en 2015

Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior

artículo científico publicado en 2010

Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children

artículo científico publicado en 2013

Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness

artículo científico publicado en 2013

No evidence for an association between genetic polymorphisms of beta(2)- and beta(3)-adrenergic receptor genes with body mass index in Aymara natives from Chile

artículo científico publicado en 2002

No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in chilean case-parents trios.

artículo científico publicado en 2005

No evidence of association between the serotonin 2A receptor--1438G/A promoter polymorphism and childhood obesity in a Spanish population: A case-parent study and a matched case-control study.

artículo científico publicado en 2005

Nonsynergic effect of ethanol and lead on heme metabolism in rats

artículo científico publicado en 1999

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

artículo científico publicado en 2014

PPARGC1A Gene Promoter Methylation as a Biomarker of Insulin Secretion and Sensitivity in Response to Glucose Challenges

scientific article published on 11 September 2020

Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate

artículo científico publicado en 2010

Plasma levels of interleukin-6 and interleukin-18 after an acute physical exercise: relation with post-exercise energy intake in twins.

artículo científico publicado en 2012

Platelet Serotonin Levels Are Associated with Plasma Soluble Leptin Receptor Concentrations in Normoglycemic Women

scientific article published on 02 May 2019

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome.

artículo científico publicado en 2002

Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system

artículo científico publicado en 2013

Prevalence of type 2 diabetes and obesity in rural Mapuche population from Chile

artículo científico publicado en 2001

Preventive letter: doubling the return rate after gestational diabetes mellitus

artículo científico publicado en 2015

Prolonged Activation of the Htr2b Serotonin Receptor Impairs Glucose Stimulated Insulin Secretion and Mitochondrial Function in MIN6 Cells

artículo científico publicado en 2017

Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.

artículo científico publicado en 1998

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

artículo científico publicado en 2011

Role of peripheral serotonin in the insulin secretion and glucose homeostasis

artículo científico publicado en 2014

Salivary porphyrin concentration in porphyria cutanea tarda

scientific article published on 01 October 1993

Serotonin- and Dopamine-Related Gene Expression in db/db Mice Islets and in MIN6 β-Cells Treated with Palmitate and Oleate.

artículo científico publicado en 2016

The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population

artículo científico publicado en 2012

The genetic contribution to first psychotic episodes in children and adolescents of the child and adolescent first-episode psychosis study

artículo científico publicado en 2008

Tryptophan 64 --> arginine polymorphism of beta-3-adrenergic receptor in Chilean women with polycystic ovary syndrome

artículo científico publicado en 2005

VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile

artículo científico publicado en 2006

Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in Chilean subjects: a case-parent study.

artículo científico publicado en 2004

[Association between genetic polymorphisms of interleukin 6 (IL6), IL6R and IL18 with metabolic syndrome in obese Chilean children]

artículo científico publicado en 2014

[Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics]

artículo científico publicado en 2014

[Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele]

scientific article published on 01 May 2014

Lista de obras de Santos JL

-rs12536657 and Ocular Biometric Parameters in Hyperopic Children, Emmetropic Adolescents, and Young Adults: A Multicenter Quantitative Trait Study

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

Adiposity and bone mineral density of Chilean elderly women in relation to toll-like receptor 4 gene polymorphisms

Allelic variants of melanocortin 3 receptor gene (MC3R) and weight loss in obesity: a randomised trial of hypo-energetic high- versus low-fat diets

Anthropometric measurements in the elderly population of Santiago, Chile

Apolipoprotein E polymorphism in elderly Chilean people with Alzheimer's disease.

Applicability of the case-parent design in the etiological research of Type 1 diabetes in Chile and other genetically mixed populations

Assessment of the Role of Metabolic Determinants on the Relationship between Insulin Sensitivity and Secretion

Association between 10 microsatellite markers and nonsyndromic cleft lip palate in the Chilean population.

Association between HLA-DQB1 alleles and type 1 diabetes in a case-parents study conducted in Santiago, Chile

Association between TGFB3 and nonsyndromic cleft lip with or without cleft palate in a Chilean population

Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population.

Association between eating behavior scores and obesity in Chilean children.

Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study

Association between obesity and insulin resistance with UCP2–UCP3 gene variants in Spanish children and adolescents

Associations between HLA-DQB1 high-risk alleles and type I diabetes do not depend on cytomegalovirus antibody status at onset: a case-parent study conducted in Chile

Associations of the CTLA-4 polymorphisms with type 1 diabetes in a Chilean population: case-parent design

Characterization of new microsatellite markers derived from sequence databases for the emu (Dromaius novaehollandiae).

Childhood obesity and eating behaviour.

Clinical utility of fluorometric scanning of plasma porphyrins for the diagnosis and typing of porphyrias

Copy number polymorphism of the salivary amylase gene: implications in human nutrition research.

Correlation between levels of free and protein-bound plasma porphyrin and urinary porphyrins in porphyria cutanea tarda

Development and assessment of the disposition index based on the oral glucose tolerance test in subjects with different glycaemic status.

Direct Relationship Between Metabolic Flexibility Measured During Glucose Clamp and Prolonged Fast in Men

Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

Does weight loss prognosis depend on genetic make-up?

Duration of breast feeding and bovine serum albumin antibody levels in type 1 diabetes: a case-control study

Eating behaviour in contrasting adiposity phenotypes: Monogenic obesity and congenital generalized lipodystrophy

Effect of the melanocortin-3 receptor Thr6Lys and Val81Ile genetic variants on body composition and substrate oxidation in Chilean obese children

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

FABP2 Ala54Thr polymorphism and diabetes in Chilean elders.

Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.

Fluoxetine impairs insulin secretion without modifying extracellular serotonin levels in MIN6 β-cells

Fructose, Omega 3 Fatty Acids, and Vitamin E: Involvement in Pediatric Non-Alcoholic Fatty Liver Disease

GOCS cohort: children's eating behavior scores and BMI.

Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study

Genotype-by-nutrient interactions assessed in European obese women

Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalised Nutrition: Part 1 - Fields of Precision Nutrition

Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes

Increasing incidence of type 1 diabetes in population from Santiago of Chile: trends in a period of 18 years (1986-2003)

Insights about weight loss-induced metabolic adaptation

Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of insulin receptor substrate-1 in response to a high-glycemic or low-glycemic carbohydrate load.

Interactions between Starch, Lipids, and Proteins in Foods: Microstructure Control for Glycemic Response Modulation

Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile.

Leptin/Adiponectin Ratios Using Either Total Or High-Molecular-Weight Adiponectin as Biomarkers of Systemic Insulin Sensitivity in Normoglycemic Women

Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population.

Low prevalence of type 2 diabetes despite a high average body mass index in the Aymara natives from Chile

Maternal anthropometry and feeding behavior toward preschool children: association with childhood body mass index in an observational study of Chilean families

Maternal hypertriglyceridemia: A link between maternal overweight-obesity and macrosomia in gestational diabetes

Melanocortin-3 receptor gene variants: association with childhood obesity and eating behavior in Chilean families

Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults

Melanocortin-4 receptor gene variants in Chilean families: association with childhood obesity and eating behavior

Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children

Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness

No evidence for an association between genetic polymorphisms of beta(2)- and beta(3)-adrenergic receptor genes with body mass index in Aymara natives from Chile

No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in chilean case-parents trios.

No evidence of association between the serotonin 2A receptor--1438G/A promoter polymorphism and childhood obesity in a Spanish population: A case-parent study and a matched case-control study.

Nonsynergic effect of ethanol and lead on heme metabolism in rats

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

PPARGC1A Gene Promoter Methylation as a Biomarker of Insulin Secretion and Sensitivity in Response to Glucose Challenges

Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate

Plasma levels of interleukin-6 and interleukin-18 after an acute physical exercise: relation with post-exercise energy intake in twins.

Platelet Serotonin Levels Are Associated with Plasma Soluble Leptin Receptor Concentrations in Normoglycemic Women

Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome.

Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system

Prevalence of type 2 diabetes and obesity in rural Mapuche population from Chile

Preventive letter: doubling the return rate after gestational diabetes mellitus

Prolonged Activation of the Htr2b Serotonin Receptor Impairs Glucose Stimulated Insulin Secretion and Mitochondrial Function in MIN6 Cells

Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

Role of peripheral serotonin in the insulin secretion and glucose homeostasis

Salivary porphyrin concentration in porphyria cutanea tarda

Serotonin- and Dopamine-Related Gene Expression in db/db Mice Islets and in MIN6 β-Cells Treated with Palmitate and Oleate.

The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population

The genetic contribution to first psychotic episodes in children and adolescents of the child and adolescent first-episode psychosis study

Tryptophan 64 --> arginine polymorphism of beta-3-adrenergic receptor in Chilean women with polycystic ovary syndrome

VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile

Vitamin D receptor polymorphism and susceptibility to type 1 diabetes in Chilean subjects: a case-parent study.