Filtros de búsqueda

Lista de obras de

2456: Genetic determinants of recovery after mild traumatic brain injury: Can study samples be identified from electronic medical records linked to DNA biobanks?

A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin

artículo científico publicado en 2003

A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data

article

A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2.

artículo científico publicado en 2007

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

artículo científico publicado en 2013

A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk

scientific article published on 09 September 2020

A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance

artículo científico publicado en 2000

A gene-based association method for mapping traits using reference transcriptome data

artículo científico publicado en 2015

A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity.

artículo científico publicado en 2007

A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose

artículo científico publicado en 2010

A genome-wide association study of breast cancer in women of African ancestry

artículo científico publicado en 2012

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303

scientific journal article

A genome-wide integrative study of microRNAs in human liver

artículo científico publicado en 2013

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

artículo científico publicado en 1996

A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13

artículo científico publicado en 2015

A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis

artículo científico publicado en 2015

A pharmacogene database enhanced by the 1000 Genomes Project

artículo científico publicado en 2009

A retrospective approach to evaluating potential adverse outcomes associated with delay of procedures for cardiovascular and cancer-related diagnoses in the context of COVID-19

scientific article published on 09 December 2020

A second-generation genomewide screen for asthma-susceptibility alleles in a founder population

artículo científico publicado en 2000

A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus

artículo científico publicado en 1998

A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci

artículo científico publicado en 2011

A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis

artículo científico publicado en 2020

A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology

artículo científico publicado en 2016

A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene

artículo científico publicado en 1996

APOE ε4-specific associations of VEGF gene family expression with cognitive aging and Alzheimer's disease

scientific article published on 05 November 2019

Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

artículo científico publicado en 2017

An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.

artículo científico publicado en 1996

An exponential combination procedure for set-based association tests in sequencing studies

artículo científico publicado en 2012

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

scientific article published on 01 June 2020

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

article

Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia

artículo científico publicado en 2011

Ascertainment considerations in the analysis of affected sib shared haplotype data

artículo científico publicado en 1986

Association Testing of the Positional and Functional Candidate Gene SLC1A1/EAAC1 in Early-Onset Obsessive-compulsive Disorder

article

Association of attention-deficit disorder and the dopamine transporter gene.

artículo científico publicado en 1995

Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

article

Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population

artículo científico publicado en 2004

Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects

artículo científico publicado en 2006

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

artículo científico publicado en 2017

Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young

scientific article published on 01 February 2000

Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas

artículo científico publicado en 2016

Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology.

artículo científico

CYP2D6 genotype and tamoxifen activity: understanding interstudy variability in methodological quality

artículo científico publicado en 2013

Calpains play a role in insulin secretion and action

artículo científico publicado en 2001

Cancer biomarker discovery is improved by accounting for variability in general levels of drug sensitivity in pre-clinical models

artículo científico publicado en 2016

Cancer pharmacogenomics: strategies and challenges

artículo científico publicado en 2013

Challenges in interpreting the evidence for genetic predictors of ototoxicity

artículo científico publicado en 2013

Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci

artículo científico publicado en 2010

Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics

artículo científico publicado en 2014

Classification of common human diseases derived from shared genetic and environmental determinants

artículo científico

Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer

artículo científico publicado en 2017

Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms

artículo científico publicado en 2019

Clinical drug response can be predicted using baseline gene expression levels and in vitro drug sensitivity in cell lines

artículo científico publicado en 2014

Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015

scientific article published on 06 May 2020

Clinical translation of cell-based pharmacogenomic discovery

artículo científico

Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice

artículo científico publicado en 2020

Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes

scientific article published on 12 May 2006

Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity

artículo científico publicado en 2011

Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients

artículo científico publicado en 2013

Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset

artículo científico publicado en 2010

Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs

artículo científico publicado en 2008

Confirmed Locus on Chromosome 11p and Candidate Loci on 6q and 8p for the Triglyceride and Cholesterol Traits of Combined Hyperlipidemia ⬇️

artículo científico publicado el 18 de septiembre de 2003

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes

artículo científico publicado en 2014

Consistency in large pharmacogenomic studies.

artículo científico publicado en 2016

Copy number polymorphisms and anticancer pharmacogenomics

artículo científico publicado en 2011

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Coverage and Characteristics of the The Affymetrix GeneChip ® Human Mapping 100K SNP Set

article

Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

artículo científico publicado en 2006

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

artículo científico publicado en 2014

Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait

artículo científico publicado en 2014

De novo pattern discovery enables robust assessment of functional consequences of non-coding variants

scientific article published on 01 May 2019

Disease associations. Chance, artifact, or susceptibility genes?

artículo científico publicado en 1989

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

scientific article published on 16 April 2020

Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.

artículo científico publicado en 2012

Erratum: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

scholarly article published in Molecular Psychiatry

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Establishment of CYP2D6 reference samples by multiple validated genotyping platforms

artículo científico publicado en 2014

Estimating heritability and genetic correlations from large health datasets in the absence of genetic data

scientific article published on 03 December 2019

Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

artículo científico publicado en 2015

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

artículo científico publicado en 2017

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

artículo científico publicado en 2017

Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry

artículo científico publicado en 2012

Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations

artículo científico publicado en 2008

Evaluation of genetic variation contributing to differences in gene expression between populations

artículo científico publicado en 2008

Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder

artículo científico publicado en 2007

Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure

artículo científico publicado en 2003

Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping

artículo científico publicado en 2017

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

artículo científico publicado en 2018

Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines

artículo científico publicado en 2009

Exprtarget: an integrative approach to predicting human microRNA targets

artículo científico publicado en 2010

Factors that impact susceptibility to fiber-induced health effects

artículo científico publicado en 2011

Finding the missing heritability of complex diseases

artículo científico publicado en 2009

Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

scientific article published on 01 January 2004

Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33

Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21

artículo científico publicado en 2004

Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers

artículo científico publicado en 2013

GEL: a novel genotype calling algorithm using empirical likelihood

artículo científico publicado en 2006

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

article

Gender-specific differences in expression in human lymphoblastoid cell lines

artículo científico publicado en 2007

Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma

artículo científico publicado en 2018

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

article

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development

Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q

artículo científico publicado en 1991

Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1.

artículo científico publicado en 2008

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium

artículo científico publicado en 2014

Genetic architecture of microRNA expression: implications for the transcriptome and complex traits

artículo científico publicado en 2012

Genetic architecture of transcript-level variation in humans

artículo científico publicado en 2008

Genetic association signal near NTN4 in Tourette syndrome

artículo científico publicado en 2014

Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver

artículo científico publicado en 2014

Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans

artículo científico publicado en 2007

Genetic predictors of gene expression associated with risk of bipolar disorder

article

Genetic resilience to amyloid related cognitive decline.

artículo científico publicado en 2016

Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture?

artículo científico publicado en 2012

Genetic risk for major depressive disorder and loneliness in gender-specific associations with coronary artery disease: supplementary

scholarly article published 5 January 2019

Genetic risk for major depressive disorder and loneliness in sex-specific associations with coronary artery disease

scientific article published on 03 December 2019

Genetic studies of stuttering in a founder population

artículo científico publicado en 2006

Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry

artículo científico publicado en 2012

Genetic variants and functional pathways associated with resilience to Alzheimer's disease

scientific article published on 01 August 2020

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

artículo científico publicado en 2013

Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population

artículo científico publicado en 2005

Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder

scientific article published on 07 April 2014

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

scientific journal article

Genetic variation is the major determinant of individual differences in leukocyte endothelial adhesion

artículo científico publicado en 2014

Genetics of Stuttering

article

Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects

artículo científico publicado en 2012

Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals

scientific journal article

Genome-wide association studies in pharmacogenomics: successes and lessons

artículo científico publicado en 2013

Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia

scientific journal article

Genome-wide association study of Tourette's syndrome

artículo científico publicado en 2013

Genome-wide association study of obsessive-compulsive disorder.

artículo científico publicado en 2012

Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas

artículo científico publicado en 2011

Genome-wide identification of microRNA expression quantitative trait loci

artículo científico publicado en 2015

Genome-wide interrogation of longitudinal FEV1 in children with asthma

artículo científico publicado en 2014

Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families

artículo científico publicado en 2001

Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands

artículo científico publicado en 2002

Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans

artículo científico publicado en 2011

Genome-wide meta-analysis for severe diabetic retinopathy

artículo científico publicado en 2011

Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations

artículo científico publicado en 2011

Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25.

artículo científico publicado en 2004

Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma

artículo científico publicado en 1998

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample

artículo científico publicado en 2006

Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma

artículo científico publicado en 2001

Genomewide significant linkage to stuttering on chromosome 12.

artículo científico publicado en 2005

Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus

artículo científico publicado en 2002

Germline BAP1 mutations predispose to malignant mesothelioma

artículo científico publicado en 2011

Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers

artículo científico publicado en 2011

Glucose transporter gene and non-insulin-dependent diabetes

artículo científico publicado en 1988

HLA-DR typing "at the DNA level": RFLPs and subtypes detected with a DR beta cDNA probe

artículo científico publicado en 1988

Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene

artículo científico publicado en 2005

Host genetic effects in pneumonia

artículo científico publicado en 2020

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

artículo científico publicado en 2010

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

artículo científico publicado en 2015

Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas

artículo científico publicado en 2010

Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies

artículo científico publicado en 2013

Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome

artículo científico publicado en 2005

Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of Pazopanib

artículo científico publicado en 2014

Identification of common genetic variants that account for transcript isoform variation between human populations.

artículo científico publicado en 2008

Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans

artículo científico publicado en 2008

Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese

artículo científico publicado en 1996

Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs

artículo científico publicado en 1995

Identification of novel germline polymorphisms governing capecitabine sensitivity.

artículo científico publicado en 2012

Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies

artículo científico publicado en 2007

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue

artículo científico publicado en 2011

Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes

artículo científico publicado en 2012

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

scholarly article published 14 February 2018

Improving the computation efficiency of polygenic risk score modeling: faster in Julia

artículo científico publicado en 2022

Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx

artículo científico publicado en 2016

Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences

artículo científico publicado en 2019

Inheritance of human platelet thermolabile phenol sulfotransferase (TL PST) activity

artículo científico publicado en 1988

Institutional Profile: University of Chicago Center for Personalized Therapeutics: research, education and implementation science

artículo científico publicado en 2013

Insulin gene mutations as a cause of permanent neonatal diabetes

artículo científico publicado en 2007

Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene

artículo científico publicado en 2002

Insulin-gene sharing in sib pairs with insulin-dependent diabetes mellitus: no evidence for linkage

artículo científico publicado en 1988

Insulin-receptor and apolipoprotein genes contribute to development of NIDDM in Chinese Americans

scientific article published on 01 January 1989

Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients

artículo científico publicado en 2014

Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy

artículo científico publicado en 2012

Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity

artículo científico publicado en 2014

Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes

article

Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma

artículo científico publicado en 2017

Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data

artículo científico publicado en 2012

Interaction of prenatal exposure to cigarettes and MAOA genotype in pathways to youth antisocial behavior

artículo científico publicado en 2009

Interpreting P values in pharmacogenetic studies: a call for process and perspective

artículo científico publicado en 2007

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

artículo científico publicado en 2019

Isolation of a cDNA Clone Encoding a KATP Channel-Like Protein Expressed in Insulin-Secreting Cells, Localization of the Human Gene to Chromosome Band 21q22.1, and Linkage Studies With NIDDM

article

Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM

artículo científico publicado en 1995

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry

artículo científico publicado en 2011

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism

artículo científico publicado en 2017

Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II.

artículo científico publicado en 1988

Linkage of calpain 10 to type 2 diabetes: the biological rationale

artículo científico publicado en 2004

Linkage studies in NIDDM with markers near the sulphonylurea receptor gene

artículo científico publicado en 1995

Linkage studies of maturity onset diabetes of the young--R.W. pedigree

artículo científico publicado en 1988

Linkage studies on NIDDM and the insulin and insulin-receptor genes

artículo científico publicado en 1989

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

artículo científico publicado en 1998

Local genetic effects on gene expression across 44 human tissues

article

Localization of MODY3 to a 5-cM Region of Human Chromosome 12 ⬇️

artículo científico publicado el 1 de diciembre de 1995

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

artículo científico publicado en 2012

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans

article by Nancy J Cox et al published February 1999 in Nature Genetics

Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees

artículo científico publicado en 2004

Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia

artículo científico publicado en 2003

Loss of heterozygosity at the CYP2D6 locus in breast cancer: implications for germline pharmacogenetic studies.

artículo científico publicado en 2014

MERLIN...and the geneticist's stone?

artículo científico publicado en 2002

Mapping Diabetes-Susceptibility Genes: Lessons Learned From Search for DNA Marker for Maturity-Onset Diabetes of the Young ⬇️

artículo científico publicado el 1 de abril de 1992

Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects

artículo científico publicado en 2003

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

artículo científico publicado en 2009

Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium

artículo científico publicado en 2007

Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs

artículo científico publicado en 2016

Mixed effects modeling of proliferation rates in cell-based models: consequence for pharmacogenomics and cancer

artículo científico publicado en 2012

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits

scientific article published on 13 May 2019

Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects

artículo científico publicado en 2001

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

artículo científico publicado en 1996

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

artículo científico publicado en 1996

Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases

artículo científico publicado en 2013

New complexities in the genetics of stuttering: significant sex-specific linkage signals

artículo científico publicado en 2006

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

artículo científico publicado en 2011

No bias in linkage analysis

artículo científico publicado en 2004

No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY

scientific article published on 01 August 2000

Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.

artículo científico publicado en 2010

Obesity-associated variants within FTO form long-range functional connections with IRX3

artículo científico publicado en 2014

On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy

artículo científico publicado en 2012

PACdb: a database for cell-based pharmacogenomics

artículo científico publicado en 2010

Parent-of-origin effects of the serotonin transporter gene associated with autism

artículo científico publicado en 2010

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

artículo científico publicado en 2013

Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10.

artículo científico publicado en 2005

PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records

scientific article published on 24 September 2020

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

artículo científico publicado en 2020

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

scientific article published in Science

Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients

artículo científico publicado en 2011

Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis - a phenome-wide association study and inverse-variance weighted meta-analysis

artículo científico publicado en 2020

Poly-omic prediction of complex traits: OmicKriging

artículo científico publicado en 2014

Population Differences in the Rate of Proliferation of International HapMap Cell Lines ⬇️

artículo científico publicado el 25 de noviembre de 2010

Population differences in microRNA expression and biological implications

artículo científico publicado en 2011

Population-specific GSTM1 copy number variation

artículo científico publicado en 2008

Power and sample size calculations for SNP association studies with censored time-to-event outcomes

artículo científico publicado en 2012

Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans

artículo científico publicado en 2008

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

scientific article published on 01 June 2019

Quantitative allelic test--a fast test for very large association studies

artículo científico publicado en 2013

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

artículo científico publicado en 2017

Rational inferences about departures from Hardy-Weinberg equilibrium

artículo científico publicado en 2005

Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial.

artículo científico publicado en 2012

Re: Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.

artículo científico publicado en 2014

Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records

artículo científico publicado en 2018

Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines

artículo científico publicado en 2007

Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome

artículo científico publicado en 2002

Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome

artículo científico publicado en 2002

Replication analysis for severe diabetic retinopathy

artículo científico publicado en 2012

Response to Knoppers et al

Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians

artículo científico publicado en 2002

SCAN database: facilitating integrative analyses of cytosine modification and expression QTL.

artículo científico publicado en 2015

SCAN: SNP and copy number annotation

artículo científico publicado en 2009

SCAN: a systems biology approach to pharmacogenomic discovery

artículo científico publicado en 2013

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

artículo científico publicado en 2008

STAMS: STRING-assisted module search for genome wide association studies and application to autism

artículo científico publicado en 2016

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

artículo científico publicado en 1996

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

artículo científico publicado en 1996

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families

artículo científico publicado en 2001

Sex differences in the genetic predictors of Alzheimer's pathology

scientific article published on 01 September 2019

Sex-specific genetic predictors of Alzheimer's disease biomarkers

artículo científico publicado en 2018

Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study

artículo científico publicado en 2017

Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping

artículo científico publicado en 2010

Structural architecture of SNP effects on complex traits

artículo científico publicado en 2014

Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom

artículo científico publicado en 2001

Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues

artículo científico publicado en 2016

Survey of the Heritability and Sparsity of Gene Expression Traits Across Human Tissues

article

The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics

artículo científico publicado en 2012

The 31-cM region of chromosome 11 including the obesity gene tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2, does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships

artículo científico publicado en 1997

The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study

artículo científico publicado en 2013

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The genetics of asthma. Mapping genes for complex traits in founder populations

artículo científico publicado en 1998

The importance of genealogy in determining genetic associations with complex traits

artículo científico publicado en 2001

The insulin gene and susceptibility to IDDM.

artículo científico publicado en 1989

The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans

artículo científico publicado en 2011

The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution

artículo científico publicado en 2009

The regulatory genome constrains protein sequence evolution: implications for the search for disease-associated genes

artículo científico publicado en 2020

The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy

artículo científico publicado en 2012

The use of genomic information to optimize cancer chemotherapy

artículo científico publicado en 2011

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

artículo científico publicado en 2010

Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival

artículo científico publicado en 2012

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

artículo científico publicado en 2016

Transcription factor ETV1 is essential for rapid conduction in the heart

artículo científico publicado en 2016

Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

article

Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines

artículo científico publicado en 2016

Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism

artículo científico publicado en 2008

Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology

artículo científico publicado en 2017

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

article

Variants affecting exon skipping contribute to complex traits.

artículo científico publicado en 2012

Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity

artículo científico publicado en 2016

Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians

artículo científico publicado en 2002

Variation in the calpain-10 gene affects blood glucose levels in the British population

artículo científico publicado en 2002

Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations

artículo científico publicado en 2000

Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome

scientific article published on 25 September 2009

Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

artículo científico publicado en 2002

[Multipoint Linkage Analysis Using Affected Relative Pairs and Partially Informative Markers]: Discussion

article published in 1998

[The association of non-insulin-dependent diabetes mellitus with the genes responsible for carbohydrate and lipid metabolism in the Chinese]

scientific article published on 01 October 1988

beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.

artículo científico publicado en 2000

cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young

artículo científico publicado en 1993

pRRophetic: an R package for prediction of clinical chemotherapeutic response from tumor gene expression levels

artículo científico publicado en 2014

A statistical method for identification of polymorphisms that explain a linkage result

artículo científico publicado el 08 de enero de 2002

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda