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A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
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- Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
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- Publication type:
- Article
Association of Cholesteryl Ester Transfer Protein Genotypes With CETP Mass and Activity, Lipid Levels, and Coronary Risk.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 23, p. 2777, doi. 10.1001/jama.299.23.2777
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- Article
Association of Apolipoprotein E Genotypes With Lipid Levels and Coronary Risk.
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- JAMA: Journal of the American Medical Association, 2007, v. 298, n. 11, p. 1300, doi. 10.1001/jama.298.11.1300
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- Article
Definition and delivery of an aortopathy bundle of care (ABC): a tool for improving diagnosis and management of Marfan syndrome and related conditions.
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- Clinical Medicine, 2016, v. 16, p. s30, doi. 10.7861/clinmedicine.16-3-s30
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- Article
Structural modelling of the cardiovascular system.
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- Biomechanics & Modeling in Mechanobiology, 2018, v. 17, n. 5, p. 1217, doi. 10.1007/s10237-018-1024-9
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- Article
Association analysis identifies new risk loci for congenital heart disease in Chinese populations.
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- Nature Communications, 2015, v. 6, n. 8, p. 8082, doi. 10.1038/ncomms9082
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- Article
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons.
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- Nature Communications, 2014, v. 5, n. 9, p. 4760, doi. 10.1038/ncomms5760
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- Article
Genetic Mechanisms Mediating Atherosclerosis Susceptibility at the Chromosome 9p21 Locus.
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- Current Atherosclerosis Reports, 2011, v. 13, n. 3, p. 193, doi. 10.1007/s11883-011-0178-z
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- Article
Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.
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- 2005
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- Publication type:
- journal article
Association Between Common Polymorphisms of the Proopiomelanocortin Gene and Body Fat Distribution.
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- Diabetes, 2005, v. 54, n. 8, p. 2492, doi. 10.2337/diabetes.54.8.2492
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- Article
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.
- Published in:
- 2013
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- Publication type:
- Journal Article
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.
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- European Heart Journal - Cardiovascular Imaging, 2013, v. 14, n. 7, p. 650, doi. 10.1093/ehjci/jes226
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- Article
Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease.
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- Genes, 2019, v. 10, n. 9, p. 663, doi. 10.3390/genes10090663
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- Article
Measured haplotype analysis of the aldosterone synthase gene and heart size.
- Published in:
- 2005
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- Publication type:
- Correction notice
Measured haplotype analysis of the aldosterone synthase gene and heart size.
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- European Journal of Human Genetics, 2003, v. 11, n. 5, p. 395, doi. 10.1038/sj.ejhg.5200967
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- Article
Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review.
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- 2020
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- Publication type:
- journal article
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
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- PLoS Genetics, 2010, v. 6, n. 4, p. 1, doi. 10.1371/journal.pgen.1000899
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- Article
Author Correction: Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07399-0
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- Publication type:
- Article
Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04931-0
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- Publication type:
- Article
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 3, p. 178, doi. 10.1002/ajmg.c.31365
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- Article
Quantitative Variation in Plasma Angiotensin-I Converting Enzyme Activity Shows Allelic Heterogeneity in the ABO Blood Group Locus.
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- Annals of Human Genetics, 2013, v. 77, n. 6, p. 465, doi. 10.1111/ahg.12034
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- Publication type:
- Article
The use of missing values in proteomic data-independent acquisition mass spectrometry to enable disease activity discrimination.
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- Bioinformatics, 2020, v. 36, n. 7, p. 2217, doi. 10.1093/bioinformatics/btz898
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- Article
Marked variation in heritability estimates of left ventricular mass depending on modality of measurement.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49961-w
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- Publication type:
- Article
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0095453
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- Publication type:
- Article
Common Variation Neighbouring Micro-RNA 22 Is Associated with Increased Left Ventricular Mass.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055061
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- Publication type:
- Article
High-Throughput 13-Parameter Immunophenotyping Identifies Shifts in the Circulating T-Cell Compartment Following Reperfusion in Patients with Acute Myocardial Infarction.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047155
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- Publication type:
- Article
Functional Significance of SRJ Domain Mutations in CITED2.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046256
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- Publication type:
- Article
Genotype at the P554L Variant of the Hexose-6 Phosphate Dehydrogenase Gene Is Associated with Carotid Intima-Medial Thickness.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023248
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- Article
Correction of Population Stratification in Large Multi-Ethnic Association Studies.
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- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001382
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- Publication type:
- Article
Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells.
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- Stem Cells, 2015, v. 33, n. 9, p. 2643, doi. 10.1002/stem.2070
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- Article
Fine-mapping of an ancestral recombination breakpoint in DCP1.
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- Nature Genetics, 1999, v. 23, n. 3, p. 270, doi. 10.1038/15449
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- Article
Familial and phenotypic associations of the aldosterone Renin ratio.
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- 2009
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- Publication type:
- journal article
Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene.
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- 2006
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- Publication type:
- journal article
Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.
- Published in:
- 2005
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- Publication type:
- journal article
More Evidence Against a Causal Association between C-Reactive Protein and Diabetes.
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- PLoS Medicine, 2008, v. 5, n. 8, p. e174, doi. 10.1371/journal.pmed.0050174
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- Publication type:
- Article
Telomere length is associated with left ventricular function in the oldest old: the Newcastle 85+ study.
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- European Heart Journal, 2007, v. 28, n. 2, p. 172
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- Publication type:
- Article
Toll the bell for another genetic association?
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- European Heart Journal, 2006, v. 27, n. 21, p. 2489, doi. 10.1093/eurheartj/ehl299
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- Publication type:
- Article
Congenital heart disease risk loci identified by genome-wide association study in European patients.
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- 2021
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- Publication type:
- journal article
T lymphocytes and fractalkine contribute to myocardial ischemia/reperfusion injury in patients.
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- Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3063, doi. 10.1172/JCI80055
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- Article
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
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- 2021
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- Publication type:
- Correction Notice
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74650-4
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- Publication type:
- Article
Heritability of haemodynamics in the ascending aorta.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71354-7
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- Publication type:
- Article
4D flow MRI assessment of right atrial flow patterns in the normal heart – influence of caval vein arrangement and implications for the patent foramen ovale.
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- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173046
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- Publication type:
- Article
U.K. Prospective Diabetes Study XV: Relationship of renin-angiotensin system gene polymorphisms with microalbuminuria in NIDDM.
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- Kidney International, 1995, v. 48, n. 6, p. 1907, doi. 10.1038/ki.1995.490
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- Article
The interleukin-1 cluster, dyslipidaemia and risk of myocardial infarction.
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- BMC Medicine, 2010, v. 8, p. 1, doi. 10.1186/1741-7015-8-6
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- Publication type:
- Article
Interactive molecular causal networks of hypertension using a fast machine learning algorithm MRdualPC.
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- BMC Medical Research Methodology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12874-024-02229-y
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- Publication type:
- Article
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families.
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- BMC Medical Genetics, 2006, v. 7, p. 83, doi. 10.1186/1471-2350-7-83
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- Publication type:
- Article
Impact of age on access site-related outcomes in 469,983 percutaneous coronary intervention procedures: Insights from the British Cardiovascular Intervention Society.
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- Catheterization & Cardiovascular Interventions, 2015, v. 86, n. 6, p. 965, doi. 10.1002/ccd.25896
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- Publication type:
- Article
Impact of age on the prognostic value of left ventricular function in relation to procedural outcomes following percutaneous coronary intervention: Insights from the British cardiovascular intervention society.
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- Catheterization & Cardiovascular Interventions, 2015, v. 85, n. 6, p. 944, doi. 10.1002/ccd.25732
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- Publication type:
- Article
Using population data for assessing next-generation sequencing performance.
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- Bioinformatics, 2015, v. 31, n. 1, p. 56, doi. 10.1093/bioinformatics/btu606
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- Publication type:
- Article