Search Results - "Lindpaintner, K"
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Toward a roadmap in global biobanking for health
Published in European journal of human genetics : EJHG (01-11-2012)“…Biobanks can have a pivotal role in elucidating disease etiology, translation, and advancing public health. However, meeting these challenges hinges on a…”
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Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
Published in Journal of medical genetics (01-02-2002)“…Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in the skull and mandible. Clinical…”
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Multi‐locus candidate gene polymorphisms and risk of myocardial infarction: a population‐based, prospective genetic analysis
Published in Journal of thrombosis and haemostasis (01-02-2006)“…Background: Polymorphisms in candidate genes related to lipid metabolism, thrombosis, hemostasis, cell‐matrix adhesion, and inflammation have been suggested…”
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Pseudoxanthoma elasticum : evaluation of diagnostic criteria based on molecular data
Published in British journal of dermatology (1951) (01-07-2006)“…Pseudoxanthoma elasticum (PXE) is a genetic disorder due to mutations in the gene encoding the transmembrane transporter protein adenosine triphosphate binding…”
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The Cardiac Renin-Angiotensin System: An Appraisal of Present Experimental and Clinical Evidence
Published in Circulation research (01-04-1991)Get full text
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Pharmacogenetics and the future of medical practice: conceptual considerations
Published in The pharmacogenomics journal (2001)Get full text
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Proteomic analysis of the cerebrospinal fluid of patients with schizophrenia
Published in Amino acids (01-07-2003)“…We applied proteomics technologies to analyze the cerebrospinal fluid of patients with schizophrenia. Such an analysis can result in the identification of…”
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Mapping of Both Autosomal Recessive and Dominant Variants of Pseudoxanthoma Elasticum to Chromosome 16p13.1
Published in Human molecular genetics (01-10-1997)“…Pseudoxanthoma elasticum (PXE) is a classic inherited disorder of the elastic tissue characterized by progressive calcification of elastic fibers with a…”
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Mutation in the promoter region of the β-fibrinogen gene and the risk of future myocardial infarction, stroke and venous thrombosis
Published in European heart journal (01-12-2001)“…Aim Polymorphisms in the promoter region of the β-fibrinogen gene are associated with increased plasma fibrinogen levels. We investigated whether the…”
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Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats
Published in Nature (London) (10-10-1991)“…The spontaneously hypertensive rat and the stroke-prone spontaneously hypertensive rat are useful models for human hypertension. In these strains hypertension…”
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Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 −455T>C polymorphisms on the susceptibility to diabetic nephropathy
Published in Clinical genetics (01-07-2006)“…Diabetic nephropathy (DN) is the leading cause of end‐stage renal disease. In DN patients, triglyceride (TG) level is elevated and lipoprotein lipase (LPL)…”
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Selecting SNPs in two-stage analysis of disease association data: a model-free approach
Published in Annals of human genetics (01-09-2000)“…For large numbers of marker loci in a genomic scan for disease loci, we propose a novel 2-stage approach for linkage or association analysis. The two stages…”
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Genetics in drug discovery and development: challenge and promise of individualizing treatment in common complex diseases
Published in British medical bulletin (1999)“…An idea, once born, can never more be undone. Friedrich Duerrrenmatt, The physicists…”
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Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms
Published in Bone (New York, N.Y.) (01-10-2002)“…Osteoporosis is a common disease characterized by a decrease in bone mass, architectural deterioration of the bone tissue, and an increased risk of fracture…”
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Genetics of interventional cardiology. Old principles, new frontiers
Published in Circulation (New York, N.Y.) (01-07-1997)Get full text
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Genetic linkage of the ACE gene to plasma angiotensin-converting enzyme activity but not to blood pressure : a quantitative trait locus confers identical complex phenotypes in human and rat hypertension
Published in Circulation (New York, N.Y.) (01-11-1995)“…An allelic variant of the ACE gene has been found to be linked to plasma angiotensin-converting enzyme (ACE) activity in humans and has been implicated in the…”
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Lipid metabolism and occurrence of post‐percutaneous transluminal coronary angioplasty restenosis: role of cholesteryl ester transfer protein and paraoxonase/arylesterase
Published in Journal of thrombosis and haemostasis (01-06-2003)“…Plasma lipid metabolic and transfer processes have recently been suggested to play an important role in the development of early restenosis, a major…”
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Finding an obesity gene--a tale of mice and man
Published in The New England journal of medicine (09-03-1995)“…The term “complex disease” has been coined for conditions that arise from multifaceted interactions of environmental and heritable factors. It encompasses some…”
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A prospective evaluation of the interleukin-1 receptor antagonist intron 2 gene polymorphism and the risk of myocardial infarction
Published in Thrombosis and haemostasis (01-11-2001)“…While an interleukin-1 receptor antagonist gene polymorphism (IL1RN-VNTR) has recently been hypothesized to be a risk factor for coronary artery disease, no…”
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Local Stress, not Systemic Factors, Regulate Gene Expression of the Cardiac Renin-Angiotensin System in vivo: A Comprehensive Study of All Its Components in the Dog
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-1996)“…Cardiac hypertrophy is associated with altered expression of the components of the cardiac reninangiotensin system (RAS). While in vitro data suggest that…”
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