Results 351 to 360 of about 8,691,632 (395)
Some of the next articles are maybe not open access.
Genetic Variations and Association
2010Publisher Summary This chapter provides information about the human hydroxytryptamine (HT)R6 gene structure, its evolution, and its expression profile in both the brain and in peripheral tissues. The chapter describes the regulatory regions like binding sites for transcription factors (TFs) or for miRNA.
GENNARELLI, Massimo, CATTANEO, Annamaria
openaire +4 more sources
Biological Psychiatry, 2007
Genetic association studies are widely used in biomedical research and yet only a minority of positive findings stand the test of replication. I explored the capacity of association studies to produce false positive findings and the impact of various definitions of replication.Genetically realistic simulation data of a typical genotyping/analytic ...
openaire +2 more sources
Genetic association studies are widely used in biomedical research and yet only a minority of positive findings stand the test of replication. I explored the capacity of association studies to produce false positive findings and the impact of various definitions of replication.Genetically realistic simulation data of a typical genotyping/analytic ...
openaire +2 more sources
Genetics of microtia and associated syndromes
Journal of Medical Genetics, 2009Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome. The estimated prevalence of microtia is 0.8-4.2 per 10 000 births, and it is more common in men.
Alasti, F., Van Camp, Guy
openaire +4 more sources
Genetics of menopause-associated diseases
Maturitas, 2001Menopause is the permanent cessation of menstruation resulting from the loss of ovarian follicular activity. It is estimated that perhaps 50 million women worldwide will go into menopause annually. Atherosclerotic cardiovascular disease, osteoporotic fractures and Alzheimer's dementia are common chronic disorders after menopause, representing major ...
F. MASSART +2 more
openaire +4 more sources
Genetic associations in diabetic nephropathy
Clinical and Experimental Nephrology, 2013Diabetic nephropathy is a complex disease, caused by both environmental and genetic factors. As in most complex diseases, genetic association studies in diabetic nephropathy showed inconsistent results. In retrospect, studies with small sample sizes, given what are now known to be small odds ratios, were partially responsible for this poor replication ...
openaire +3 more sources
Cell journal, 2015
Population-based genetic association studies have proven to be a powerful tool in identifying genes implicated in many complex human diseases that have a huge impact on public health.
Atefeh Namipashaki +2 more
semanticscholar +1 more source
Population-based genetic association studies have proven to be a powerful tool in identifying genes implicated in many complex human diseases that have a huge impact on public health.
Atefeh Namipashaki +2 more
semanticscholar +1 more source
Genetics of Associated Syndromes
2021Congenital anomalies of the upper extremity (CAUE) are seen in a number of syndromes, either as an occasional feature or as a major or even presenting feature. In this chapter, only the syndromes in which the CAUE are defining or major features are included. For each of these syndromes, the genetic basis, including specific genes, if known, is included.
openaire +2 more sources
From Genetic Association to Genetic Switch
Science, 2008Human genetic studies have led to the identification of a transcriptional regulator that could serve as a therapeutic target for adult hemoglobin disorders.
openaire +2 more sources
Genetic Association Studies [PDF]
, 2009 Recent technological advancements allowing for large-scale sequencing efforts present an exciting opportunity to uncover the genetic underpinnings of complex diseases. In an attempt to characterize these genetic contributors to disease, investigators have embarked in multitude on what are commonly referred to as population-based genetic association ...
openaire +1 more source
Association Studies in Genetics
2011This chapter is devoted at first to a quick review of case control studies in genetic epidemiology. The case–control method is usually applied in genetic epidemiology to elucidate the role of genetic factors and their interaction with environmental factors in the aetiology of human diseases.
Luigi Salmaso +3 more
openaire +2 more sources