Works matching AU Hayward, Caroline
Results: 182
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
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- Human Mutation, 1997, v. 10, n. 6, p. 415, doi. 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C
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- Article
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations.
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- Human Mutation, 1997, v. 10, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L
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- Article
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
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- Human Mutation, 1994, v. 3, n. 2, p. 159, doi. 10.1002/humu.1380030212
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- Article
Fabrillin (FBN1) mutations in Marfan syndrome.
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- Human Mutation, 1992, v. 1, n. 1, p. 79, doi. 10.1002/humu.1380010115
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- Article
Investigation of the causal relationships between human IgG N-glycosylation and 12 common diseases associated with changes in the IgG N-glycome.
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- Human Molecular Genetics, 2022, v. 31, n. 10, p. 1545, doi. 10.1093/hmg/ddab335
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Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function.
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- Human Molecular Genetics, 2021, v. 30, n. 13, p. 1259, doi. 10.1093/hmg/ddab072
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A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank.
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- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1396, doi. 10.1093/hmg/ddaa058
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- Article
Insights into the genetic basis of retinal detachment.
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- Human Molecular Genetics, 2020, v. 29, n. 4, p. 689, doi. 10.1093/hmg/ddz294
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- Article
Genetic Variants in the ST6GAL1 Gene Are Associated with Thyroglobulin Plasma Level in Healthy Individuals.
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- Thyroid, 2019, v. 29, n. 6, p. 886, doi. 10.1089/thy.2018.0661
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- Article
Characterisation of an inflammation-related epigenetic score and its association with cognitive ability.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00903-8
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Epigenetic measures of ageing predict the prevalence and incidence of leading causes of death and disease burden.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00905-6
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Investigating Shared Aetiology Between Type 2 Diabetes and Major Depressive Disorder in a Population Based Cohort.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 3, p. 227, doi. 10.1002/ajmg.b.32478
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Genome-Wide Association Uncovers Shared Genetic Effects Among Personality Traits and Mood States.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 6, p. 684, doi. 10.1002/ajmg.b.32072
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- Article
The Effect of Mediterranean Diet on Thyroid Gland Activity.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5874, doi. 10.3390/ijms25115874
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- Article
Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7006, doi. 10.3390/ijms24087006
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- Article
Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2173, doi. 10.3390/ijms23042173
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A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
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- BMC Genetics, 2007, v. 8, p. 43, doi. 10.1186/1471-2156-8-43
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- Article
Phenotypic and genetic analysis of cognitive performance in Major Depressive Disorder in the Generation Scotland: Scottish Family Health Study.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0111-0
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Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-017-0034-1
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Genome-wide haplotype-based association analysis of major depressive disorder in Generation Scotland and UK Biobank.
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- Translational Psychiatry, 2017, p. 1, doi. 10.1038/s41398-017-0010-9
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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47436-6
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Genetic regulation of post-translational modification of two distinct proteins.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29189-5
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Identification of influential probe types in epigenetic predictions of human traits: implications for microarray design.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01320-9
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Refining epigenetic prediction of chronological and biological age.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01161-y
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Validation of Surrogates of Urine Osmolality in Population Studies.
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- 2017
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- journal article
Identification and validation of plasma proteome signatures associated with MRI measurements in healthy individuals.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.052512
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Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study.
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- 2018
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- journal article
Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
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- Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 1, p. 91, doi. 10.1007/s00424-016-1913-7
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Using tree-based methods for detection of gene–gene interactions in the presence of a polygenic signal: simulation study with application to educational attainment in the Generation Scotland Cohort Study.
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- Bioinformatics, 2019, v. 35, n. 2, p. 181, doi. 10.1093/bioinformatics/bty462
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SNP and Haplotype Regional Heritability Mapping (SNHap-RHM): Joint Mapping of Common and Rare Variation Affecting Complex Traits.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.791712
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Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits.
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- Human Molecular Genetics, 2007, v. 16, n. 2, p. 233, doi. 10.1093/hmg/ddl473
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Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.
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- Human Molecular Genetics, 2006, v. 15, n. 10, p. 1680, doi. 10.1093/hmg/ddl091
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Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
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- Human Molecular Genetics, 2003, v. 12, n. 20, p. 2657, doi. 10.1093/hmg/ddg289
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- Article
Identification of SATB2 as the cleft palate gene on 2q32–q33.
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- Human Molecular Genetics, 2003, v. 12, n. 19, p. 2491, doi. 10.1093/hmg/ddg248
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- Article
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 373
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- Article
Publisher Correction: Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02379-2
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- Article
Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01525-0
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- Article
Phenome-wide analyses identify an association between the parent-of-origin effects dependent methylome and the rate of aging in humans.
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- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02953-6
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- Article
Common Genetic Variants Explain the Majority of the Correlation Between Height and Intelligence: The Generation Scotland Study.
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- Behavior Genetics, 2014, v. 44, n. 2, p. 91, doi. 10.1007/s10519-014-9644-z
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Association of Existing and New Candidate Genes for Anxiety, Depression and Personality Traits in Older People.
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- Behavior Genetics, 2010, v. 40, n. 4, p. 518, doi. 10.1007/s10519-009-9326-4
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- Article
Apolipoprotein E is not Related to Memory Abilities at 70 Years of Age.
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- Behavior Genetics, 2009, v. 39, n. 1, p. 6, doi. 10.1007/s10519-008-9236-x
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Genetic and Environmental Risk for Chronic Pain and the Contribution of Risk Variants for Major Depressive Disorder: A Family-Based Mixed-Model Analysis.
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- 2016
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- Publication type:
- journal article
Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson's Disease.
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- Journal of Molecular Neuroscience, 2011, v. 43, n. 3, p. 246, doi. 10.1007/s12031-010-9409-y
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- Article
Does inbreeding affect N-glycosylation of human plasma proteins?
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- Molecular Genetics & Genomics, 2011, v. 285, n. 5, p. 427, doi. 10.1007/s00438-011-0620-5
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Genome‐ and epigenome‐wide studies of plasma protein biomarkers for Alzheimer's disease implicate TBCA and TREM2 in disease risk.
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- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2022, v. 14, n. 1, p. 1, doi. 10.1002/dad2.12280
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Identification of plasma proteins relating to brain neurodegeneration and vascular pathology in cognitively normal individuals.
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- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12240
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- Article
Thyroid Hormones Are Not Associated with Plasma Osteocalcin Levels in Adult Population with Normal Thyroid Function.
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- Metabolites (2218-1989), 2022, v. 12, n. 8, p. 719, doi. 10.3390/metabo12080719
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Systematic Evaluation of Normalization Methods for Glycomics Data Based on Performance of Network Inference.
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- Metabolites (2218-1989), 2020, v. 10, n. 7, p. 271, doi. 10.3390/metabo10070271
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Regional variation in health is predominantly driven by lifestyle rather than genetics.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00497-5
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Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00453-3
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- Article