Bibliografie tematiche / Human genetic variants / Libri
Segui questo link per vedere altri tipi di pubblicazioni sul tema: Human genetic variants.

Libri sul tema "Human genetic variants"

Autore: Grafiati
Pubblicato: 12 aprile 2025

Cita una fonte nei formati APA, MLA, Chicago, Harvard e in molti altri stili

Scegli il tipo di fonte:

Vedi i top-27 libri per l'attività di ricerca sul tema "Human genetic variants".

Accanto a ogni fonte nell'elenco di riferimenti c'è un pulsante "Aggiungi alla bibliografia". Premilo e genereremo automaticamente la citazione bibliografica dell'opera scelta nello stile citazionale di cui hai bisogno: APA, MLA, Harvard, Chicago, Vancouver ecc.

Puoi anche scaricare il testo completo della pubblicazione scientifica nel formato .pdf e leggere online l'abstract (il sommario) dell'opera se è presente nei metadati.

Vedi i libri di molte aree scientifiche e compila una bibliografia corretta.

1

P, Winter William, a cura di. Hemoglobin variants in human populations. Boca Raton, Fla: CRC Press, 1986.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
2

author, Thompson Simon G., a cura di. Mendelian randomization: Methods for using genetic variants in causal estimation. Boca Raton: CRC Press, Taylor & Francis Group, 2015.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
3

K, Méhes, a cura di. Informative morphognetic variants in the newborn infant. Budapest: Akadémia Kiadó, 1988.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
4

Epigenetic Variants of the Human Skull. E. Schweizerbartsche Verlagsbuchhandlung, 1989.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
5

Frequencies of hemoglobin variants: Thalassemia, the glucose-6-phosphate dehydrogenase deficiency, G6PD variants, and ovalocytosis in human populations. New York: Oxford University Press, 1985.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
6

Burgess, Stephen, e Simon G. Thompson. Mendelian Randomization: Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
7

Burgess, Stephen, e Simon G. Thompson. Mendelian Randomization: Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
8

Mendelian Randomization: Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
9

Burgess, Stephen, e Simon G. Thompson. Mendelian Randomization: Methods for Using Genetic Variants in Causal Estimation. Taylor & Francis Group, 2015.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
10

Mendelian Randomization: Methods for Using Genetic Variants in Causal Estimation. Taylor & Francis Group, 2015.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
11

United States National Institute for e Institute for Medical Research (Camden. Human Genetic Mutant Cell Repository : List of Genetic Variants, Chromosomal Aberrations and Normal Cell Cultures Submitted to the Repository: 4th Ed. Creative Media Partners, LLC, 2023.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
12

Haiman, Christopher, e David J. Hunter. Genetic Epidemiology of Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0004.

Testo completo
Abstract (sommario):
This chapter explores the genetic epidemiology of cancer: the identification and quantification of inherited genetic factors, and their potential interaction with the environment, in the etiology of cancer in human populations. It also describes the techniques used to identify genetic variants that contribute to cancer susceptibility. It describes the older research methods for identifying the chromosomal localization of high-risk predisposing genes, such as linkage analysis within pedigrees and allele-sharing methods, as it is important to understand the foundations of the field. It also reviews the epidemiologic study designs that can be helpful in identifying low-risk alleles in candidate gene and genome-wide association studies, as well as gene–environment interactions. Finally, it describes some of the genotyping and sequencing platforms commonly employed for high-throughput genome analysis, and the concept of Mendelian randomization and how it may be useful in the study of biomarkers and environmental causes of cancer.
Gli stili APA, Harvard, Vancouver, ISO e altri
13

Bentham, James R. The genetics of congenital heart disease. A cura di José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, José Luis de la Pompa, David Sedmera, Cristina Basso e Deborah Henderson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0022.

Testo completo
Abstract (sommario):
Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in cardiac developmental genes as well as common variants that may also contribute to disease, for example by altering metabolic pathways. Work in model organisms such as mouse and zebrafish has been pivotal in identifying CHD candidate genes. Future challenges involve translating the discoveries made in mouse models to human CHD genetics and manipulating potentially protective pathways to prevent disease.
Gli stili APA, Harvard, Vancouver, ISO e altri
14

Slack, Jonathan. 5. Genes of small effect. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199676507.003.0005.

Testo completo
Abstract (sommario):
‘Genes of small effect’ considers unidentified genes whose variants collectively affect some characteristic of interest. Many aspects of living organisms depend not on the action of a few genes, but on the actions of many, each having a small effect on the overall characteristic. This assumption has been used successfully to inform the breeding of agricultural animals and plants. But some of the concepts have also been very controversial when applied to human beings. The heritability—the proportion of the variance in a population attributable to genetic variation—of human height, serious mental illness, and IQ is considered along with results from genome wide association studies.
Gli stili APA, Harvard, Vancouver, ISO e altri
15

Informative Morphogenetic Variants in the Newborn Infant. Akademiai Kiado, 2002.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
16

Chang, Ellen T., e Hans-Olov Adami. Nasopharyngeal Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0008.

Testo completo
Abstract (sommario):
The distinctive global incidence patterns and risk factors for nasopharyngeal carcinoma (NPC) make this a unique malignancy that represents an epidemiologic challenge. NPC is rare throughout most of the world but relatively common in southern China, Southeast Asia, the Arctic, North Africa, and the Middle East. This pattern is determined in part by the geographic and ethnic distribution of established risk factors for NPC, which include early/aberrant Epstein Barr virus infection, Chinese-style salted fish consumption, family history, certain human leukocyte antigen alleles, and tobacco smoking. Other possible NPC risk factors include certain dietary, occupational, and infectious exposures and genetic variants. Risk factors for NPC in low-incidence regions, where tumors are more often of squamous cell histology than in high-incidence regions, are poorly understood, as are etiologic interactions among genetic, environmental, and infectious risk factors for NPC.
Gli stili APA, Harvard, Vancouver, ISO e altri
17

Brennand, Kristen. Application of Stem Cells to Understanding Psychiatric Disorders. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0005.

Testo completo
Abstract (sommario):
While much has been learned through clinical post-mortem and neuroimaging studies of patients and animal models of autism spectrum disorder (ASD), bipolar disorder (BD) and schizophrenia (SZ), these classical approaches have yet to fully elucidate the interaction of complex genetic risk factors on disease predisposition. The derivation of human induced pluripotent stem cells (hiPSCs) from patients with psychiatric disorders permits the study of the full complement of risk variants (known and unknown) that underlie disease predisposition, precisely in the cell types relevant to disease. The following chapter covers work to date regarding the advancements in the use of hiPSCs to model psychiatric disorders.
Gli stili APA, Harvard, Vancouver, ISO e altri
18

Janssens, Veerle. Promoter Analysis and Characterization of Novel Splice Variants of the Human Phosphotyrosyl Phosphatase Activator Gene. Leuven Univ Pr, 2000.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
19

Turkheimer, Eric. The nature of nature. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198725978.003.0026.

Testo completo
Abstract (sommario):
Chapter 26 covers how Sir Francis Galton was the first to apply the Shakespearian phrase “nature and nurture” to human individual differences. The so-called nature–nurture debate began as a question of whether differences among people could be attributed to in-born characteristics or environmental characteristics. Galton predated both scientific understanding of genetics and contemporary conceptualizations of behavior, but in the century that followed it was learned that: (1) the most general answer is, “both”, (2) genetic differences were more pervasive and powerful than had been anticipated, and (3) neither genetic nor environmental variance in behavior can be readily analyzed into specific mechanisms of behavior. The completion of the Human Genome Project at the turn of the current century focused attention on how the nature–nurture question had itself evolved: modern questions of nature and nurture are no longer about discriminating genetic and environmental sources of human differences, but are instead about seeking developmental mechanisms of behavior that encompass genetic and environmental inputs.
Gli stili APA, Harvard, Vancouver, ISO e altri
20

Naicker, Saraladevi, e Graham Paget. HIV and renal disease. A cura di Vivekanand Jha. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0187_update_001.

Testo completo
Abstract (sommario):
The human immunodeficiency virus (HIV) infection epidemic has particularly affected the poorest regions of the world. HIV can directly or indirectly affect different aspects of renal function, and results in a variable expression of kidney disease.Acute kidney injury (AKI) occurs in approximately 20% of hospitalized patients. The prevalence of chronic kidney disease (CKD) amongst HIV-infected patients is reported at 3.5–38% in different regions of the world. The complex interplay between the pheno- and/or genotypic variants of the virus, the genetic make-up of the host, and environmental factors determine the clinical manifestations of renal disease. The association of APOL1 gene variants G1 and G2 with the risk of focal segmental glomerulosclerosis explains the high frequency of HIV-associated nephropathy (HIVAN) in populations of black ethnicity.Anti-retroviral therapy (ART) is effective in preventing progression of HIVAN. Some of the drugs used in ART regimens are potentially nephrotoxic and require dose adjustment or even avoidance in CKD. Progression to end-stage renal disease (ESRD) in HIVAN has been reported to correlate with the extent of chronic damage quantified by renal biopsy.HIV-infected patients requiring dialysis, who are stable on ART, are achieving survival rates comparable to those of non-HIV dialysis populations. Similarly, HIV infection does not seem to adversely affect patient and graft survival rates after kidney transplantation, and there has been no increase in the prevalence of opportunistic infections in transplant recipients on effective ART.
Gli stili APA, Harvard, Vancouver, ISO e altri
21

Rucker, James J. H., e Peter McGuffin. Copy Number Variation in Neuropsychiatric Disorders. A cura di Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.005.

Testo completo
Abstract (sommario):
It has long been known that the human genome is subject to deletion and duplication of genetic material by various molecular mechanisms. Until recently, such events were assumed to be relatively rare phenomena. It is now known that submicroscopic deletions or duplications calledcopy number variants(CNVs) are a major source of genomic variation. Rare CNVs (defined as occurring in less than 1 percent of the population) have been implicated in schizophrenia and autism. Measured in terms of odds ratios, individual CNVs have been shown to have large effects, some increasing the risk of disorder several-fold. But they are incompletely penetrant, no one CNV is either necessary or sufficient to cause the disorder. The findings are less clear-cut with bipolar disorder but, here, too, rare CNVs probably play a role. In unipolar depression, initial evidence suggests an overall increase in rare CNVs that disrupt exons, the coding regions of genes.
Gli stili APA, Harvard, Vancouver, ISO e altri
22

Vermeulen, Roel, Douglas A. Bell, Dean P. Jones, Montserrat Garcia-Closas, Avrum Spira, Teresa W. Wang, Martyn T. Smith, Qing Lan e Nathaniel Rothman. Application of Biomarkers in Cancer Epidemiology. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0006.

Testo completo
Abstract (sommario):
Advancements in OMICs are now enabling investigators to explore comprehensively the biological consequences of exogenous and endogenous exposures by detecting molecular signatures of exposure, early signs of adverse biological effects, preclinical disease, and molecularly defined cancer subtypes. These new technologies have proven invaluable for assembling a comprehensive portrait of human exposure, health, and disease. This includes hypothesis-driven biomarkers, as well as platforms that can agnostically analyze entire biologic processes and “compartments,” including the measurement of small molecules (metabolomics), DNA polymorphisms and rarer inherited variants (genomics), methylation and microRNA (epigenomics), chromosome-wide alterations, mRNA (transcriptomics), proteins (proteomics), and the microbiome (microbiomics). Although the implementation of these technologies in epidemiologic studies has already shown great promise, some challenges of particular importance must be addressed. Non-genetic OMIC markers vary over time due to both random variation and physiologic changes. Therefore, there is an urgent need for cohorts to collect repeat biological samples over time.
Gli stili APA, Harvard, Vancouver, ISO e altri
23

Goldman, David, Zhifeng Zhou e Colin Hodgkinson. The Genetic Basis of Addictive Disorders. A cura di Dennis S. Charney, Eric J. Nestler, Pamela Sklar e Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0042.

Testo completo
Abstract (sommario):
Addictive disorders are moderately to highly heritable, indicating that alleles transmitted from parents are protective, or enhance risk by whatever mechanisms. However, the inheritance of addictive disorders is complex, involving hundreds of genes and variants that are both common and rare, and that vary in effect size and context of action. Genes altering risk for addictions have been identified by pathway and candidate gene studies in humans and model organisms, and genomic approaches including genome-wide association, meiotic linkage, and sequencing. Genes responsible for shared liability to different addictive disorders have been identified, as well as genes that are relatively specific in altering risk of addiction to one agent. An impediment to overarching conclusions is that most of the heritability of addictions is unexplained at the level of gene or functional locus. However, new analytic approaches and tools have created new potentials for resolution of the “missing heritability.”
Gli stili APA, Harvard, Vancouver, ISO e altri
24

Barr, Christina S. Gene-by-Environment Interactions in Primates. A cura di Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.006.

Testo completo
Abstract (sommario):
Because of their complex social structures, behaviors, and genetic similarities to humans, nonhuman primates are useful for studying how genetic factors influence alcohol consumption. The neurobiological systems that influence addiction vulnerability may do so by acting on alcohol response, reward pathways, behavioral dyscontrol, and vulnerability to stress and anxiety. Rhesus macaques show individual differences in alcohol response and temperament, and such differences are influenced by genetic variants that are similar functionally to those present in humans. Genes in which variation moderates these phenotypes provide opportunities for modeling how genetic and environmental factors (i.e., stress exposure, individual’s sex, or alcohol response) interact to influence alcohol consumption. Studies in primates may also reveal selective factors that have driven maintenance or fixation of alleles that increase risk for alcohol use disorders in modern humans.
Gli stili APA, Harvard, Vancouver, ISO e altri
25

Westberg, Lars, e Hasse Walum. Oxytocin and Vasopressin Gene Variation and the Neural Basis of Social Behaviors. A cura di Turhan Canli. Oxford University Press, 2013. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.011.

Testo completo
Abstract (sommario):
Experimental studies in rodents and humans show that the neuropeptides oxytocin and vasopressin are important regulators of behaviors related to social interactions. Evidence for positive effects of oxytocin treatment on symptoms of psychiatric disorders characterized by impaired social functioning has emerged. Numerous studies report associations between various social behaviors, the risk of autism, and polymorphisms inOXTRandAVPR1A. This chapter provides an overview of these genetic association studies. Although many of the published findings are inconclusive and need replication in independent samples, the chapter concludes that variants ofOXTRandAVPR1Aseem to moderate individual variation in different aspects of social behavior. The challenges for future studies include replication of current findings, identification of the functional variants, and characterization of the neural mechanisms mediating the gene-behavior associations, as well as exploration of the pharmacogenetic potential ofOXTRandAVPR1Ain future clinical trials.
Gli stili APA, Harvard, Vancouver, ISO e altri
26

Nielsen, François. Genes and Status Achievement. A cura di Rosemary L. Hopcroft. Oxford University Press, 2018. http://dx.doi.org/10.1093/oxfordhb/9780190299323.013.22.

Testo completo
Abstract (sommario):
A number of human traits that are predictive of socioeconomic success (e.g., intelligence, certain personality traits, and educational attainment) or reflective of success (e.g., occupational prestige and earnings) have been found to be substantially affected by individual genetic endowments; some outcomes, such as educational attainment, are also affected by the family environment, although usually to a lesser extent. The associations among status-related traits are themselves largely due to genetic causes. By reshuffling the genes of parents at each generation, sexual reproduction produces a regression of status-relevant traits of offspring toward the population mean—downward for high-status parents, upward for low-status parents—generating social mobility in an achievement-oriented society. Incorporating the quantitative genetic decomposition of trait variance into genetic, shared environmental, and nonshared environmental sources into the classic sociological model of status achievement allows for a better understanding and measurement of central social stratification concepts, such as opportunity and ascription.
Gli stili APA, Harvard, Vancouver, ISO e altri
27

Petit, Véronique, Kaveri Qureshi, Yves Charbit e Philip Kreager, a cura di. The Anthropological Demography of Health. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780198862437.001.0001.

Testo completo
Abstract (sommario):
This book provides an integrative framework for the anthropological demography of health, a field of interdisciplinary population research grounded in ethnography and in critical examination of the social, political, and economic histories that have shaped relations between peoples. The field has grown from the 1990s, extending to a remarkable range of key human and policy issues, including: genetic disorders; nutrition; mental health; infant, child and maternal morbidity; malaria; HIV/AIDS; disability and chronic diseases; new reproductive technologies; and population ageing. Collaboration with social, medical, and demographic historians enables these issues to be situated in the evolution of institutional structures and inequalities that shape health and care access. Understanding fertility levels and trends has widened beyond parity and contraception to the many life course risks and alternative healing systems that shape reproductive health. By going beyond conventional demographic and epidemiological methods, and idealised macro/micro-level units, the anthropological demography of health places people’s health-seeking behaviour in a compositional demography based on ethnographic observation of group formation and change over time, and of variance between what people say and do. It tracks family and community networks; class, linguistic, and religious groups; sectoral labour and market distributions; health and healing specialisms; and relations between these bodies and with groups controlling local and national governments. The approach enables examination of how local cultures and experience are translated formally into measures on which survey and clinical programmes rely, thus testing the empirical adequacy of such translations, and leading to revision of concepts of risk and governance.
Gli stili APA, Harvard, Vancouver, ISO e altri
Ti possono interessare anche gli elenchi di altri tipi di fonti sul tema "Human genetic variants":
Articoli di riviste Tesi
Offriamo sconti su tutti i piani premium per gli autori le cui opere sono incluse in raccolte letterarie tematiche. Contattaci per ottenere un codice promozionale unico!

Vai alla bibliografia