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Clinical and Mutation Spectra of Cockayne Syndrome in India.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Erratum to: Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease.
- Published in:
- 2016
- By:
- Publication type:
- corrected article
Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Perivascular spaces, plasma GFAP, and speeded executive function in neurodegenerative diseases.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5800, doi. 10.1002/alz.14081
- By:
- Publication type:
- Article
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency.
- Published in:
- 2007
- By:
- Publication type:
- Case Study
APOC3 Interference for Familial Chylomicronaemia Syndrome.
- Published in:
- touchREVIEWS in Endocrinology, 2022, v. 18, n. 2, p. 82, doi. 10.17925/EE.2022.18.2.82
- By:
- Publication type:
- Article
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 404, doi. 10.1007/s00439-003-0906-8
- By:
- Publication type:
- Article
Hypertriglyceridemia.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Apolipoprotein E in hyperlipidemia.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Identification of a dysfunctional missense single nucleotide variant of human adenylyl cyclase VI.
- Published in:
- Clinical Pharmacology & Therapeutics, 2005, v. 77, n. 4, p. 271, doi. 10.1016/j.clpt.2004.11.005
- By:
- Publication type:
- Article
Free fatty acid-mediated impairment of glucose-stimulated insulin secretion in nondiabetic Oji-Cree individuals from the Sandy Lake community of Ontario, Canada: a population at very high risk for developing type 2 diabetes.
- Published in:
- 2003
- By:
- Publication type:
- journal article
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Relationship of the metabolic syndrome to carotid ultrasound traits.
- Published in:
- Cardiovascular Ultrasound, 2006, v. 4, p. 28, doi. 10.1186/1476-7120-4-28
- By:
- Publication type:
- Article
A comparison of ultrasound measurements to assess carotid atherosclerosis development in subjects with and without type 2 diabetes.
- Published in:
- Cardiovascular Ultrasound, 2005, v. 3, p. 15, doi. 10.1186/1476-7120-3-15
- By:
- Publication type:
- Article
Secondary causes of chylomicronemia: defining the underside of the iceberg.
- Published in:
- 2018
- By:
- Publication type:
- editorial
Rapidly lowering triglyceride levels by plasma exchange in acute pancreatitis: What's the point?
- Published in:
- Journal of Clinical Apheresis, 2022, v. 37, n. 3, p. 194, doi. 10.1002/jca.21972
- By:
- Publication type:
- Article
Linkage disequilibrium between DNA markers at the low-density lipoprotein receptor gene.
- Published in:
- Genetic Epidemiology, 1990, v. 7, n. 1, p. 69, doi. 10.1002/gepi.1370070114
- By:
- Publication type:
- Article
Apolipoprotein genetic variation in the assessment of atherosclerosis susceptibility.
- Published in:
- Genetic Epidemiology, 1987, v. 4, n. 3, p. 163, doi. 10.1002/gepi.1370040302
- By:
- Publication type:
- Article
Validation of volumetric and single-slice MRI adipose analysis using a novel fully automated segmentation method.
- Published in:
- Journal of Magnetic Resonance Imaging, 2015, v. 41, n. 1, p. 233, doi. 10.1002/jmri.24526
- By:
- Publication type:
- Article
Evaluation of adipose tissue volume quantification with IDEAL fat-water separation.
- Published in:
- Journal of Magnetic Resonance Imaging, 2011, v. 34, n. 2, p. 474, doi. 10.1002/jmri.22603
- By:
- Publication type:
- Article
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Allele Frequencies of Apolipoprotein A-I and A-II Gene Locus DNA Polymorphisms in Boston-Based Whites.
- Published in:
- Human Heredity, 1989, v. 39, n. 3, p. 174, doi. 10.1159/000153855
- By:
- Publication type:
- Article
Kinase mutations in human disease: interpreting genotype-phenotype relationships.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Plasma lipoproteins: genetic influences and clinical implications.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Implications of copy-number variation in the human genome: a time for questions.
- Published in:
- Nature Reviews Genetics, 2006, v. 7, n. 6, p. 414, doi. 10.1038/nrg1884
- By:
- Publication type:
- Article
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2021, p. 1, doi. 10.1177/23247096211022484
- By:
- Publication type:
- Article
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2021, p. 1, doi. 10.1177/23247096211022484
- By:
- Publication type:
- Article
Editorial: Rare dyslipidemias.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1248435
- By:
- Publication type:
- Article
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 934, doi. 10.1007/s10038-006-0042-0
- By:
- Publication type:
- Article
Cockayne syndrome type A: novel mutations in eight typical patients.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 701, doi. 10.1007/s10038-006-0011-7
- By:
- Publication type:
- Article
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 1, p. 61
- By:
- Publication type:
- Article
DNA polymorphisms of lipase related genes.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 8, p. 443, doi. 10.1007/s10038-003-0051-1
- By:
- Publication type:
- Article
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 5, p. 271, doi. 10.1007/s10038-003-0025-3
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- Publication type:
- Article
Single nucleotide polymorphisms of the resistin (RSTN) gene.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 9, p. 553, doi. 10.1007/s100380170040
- By:
- Publication type:
- Article
Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 92, doi. 10.1007/s100380050018
- By:
- Publication type:
- Article
Human cathepsin S gene (CTSS) promoter -25G/A polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 94, doi. 10.1007/s100380050019
- By:
- Publication type:
- Article
Human hepatocyte nuclear factor-1β (HNF1B) 1968A/G polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 98, doi. 10.1007/s100380050021
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- Publication type:
- Article
Human C-reactive protein (CRP) 1059G/C polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 100, doi. 10.1007/s100380050022
- By:
- Publication type:
- Article
The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 4, p. 225, doi. 10.1007/s100380050148
- By:
- Publication type:
- Article
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269
- By:
- Publication type:
- Article
A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4189, doi. 10.1093/hmg/ddp361
- By:
- Publication type:
- Article
Polygenic determinants of severe hypertriglyceridemia.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2894, doi. 10.1093/hmg/ddn188
- By:
- Publication type:
- Article
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - Update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.225
- By:
- Publication type:
- Article
Clinical utility gene card for: Abetalipoproteinaemia - Update 2014.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.224
- By:
- Publication type:
- Article
Lipid-Modifying Therapies and Stroke Prevention.
- Published in:
- Current Neurology & Neuroscience Reports, 2022, v. 22, n. 7, p. 375, doi. 10.1007/s11910-022-01197-4
- By:
- Publication type:
- Article
Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences?
- Published in:
- Current Atherosclerosis Reports, 2022, v. 24, n. 6, p. 419, doi. 10.1007/s11883-022-01018-6
- By:
- Publication type:
- Article
Genetics of Triglycerides and the Risk of Atherosclerosis.
- Published in:
- Current Atherosclerosis Reports, 2017, v. 19, n. 7, p. 1, doi. 10.1007/s11883-017-0667-9
- By:
- Publication type:
- Article
Pharmacogenetics of Lipid-Lowering Agents: Precision or Indecision Medicine?
- Published in:
- Current Atherosclerosis Reports, 2016, v. 18, n. 5, p. 1, doi. 10.1007/s11883-016-0573-6
- By:
- Publication type:
- Article
The Complex Genetic Basis of Plasma Triglycerides.
- Published in:
- Current Atherosclerosis Reports, 2012, v. 14, n. 3, p. 227, doi. 10.1007/s11883-012-0243-2
- By:
- Publication type:
- Article
Genetics of metabolic syndrome: Is there a role for phenomics?
- Published in:
- Current Atherosclerosis Reports, 2008, v. 10, n. 3, p. 201, doi. 10.1007/s11883-008-0032-0
- By:
- Publication type:
- Article