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Bibliografias temáticas / Genetic polymorphisms

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Literatura científica selecionada sobre o tema "Genetic polymorphisms"

Autor: Grafiati

Publicado: 4 de junho de 2021

Última modificação: 31 de julho de 2024

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Artigos de revistas sobre o assunto "Genetic polymorphisms"

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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger et al. "Association of common genetic variations and idiopathic venous thromboembolism". Thrombosis and Haemostasis 103, n.º 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.

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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.

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Siddique, Imad, K. Scott Brimble, Louise Walkin, Angela Summers, Paul Brenchley, Sarah Herrick e Peter J. Margetts. "Genetic Polymorphisms and Peritoneal Membrane Function". Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, n.º 5 (setembro de 2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.

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BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status peritoneal membrane, risk for peritonitis, encapsulating peritoneal sclerosis (EPS), patient and technique survival. We combined data from studies which evaluated the same genetic polymorphism and the same outcome.ResultsWe evaluated 18 relevant studies. All studies used a candidate gene approach. Gene polymorphisms in the interleukin (IL)-6 gene were associated with peritoneal membrane solute transport in several studies in different ethnic populations. Associations with solute transport and polymorphisms in endothelial nitric oxide synthase and receptor for advanced glycation end product genes were also identified. There was evidence of a genetic predisposition for peritonitis found in 2 studies, and for EPS in 1 study. Survival was found to be associated with a polymorphism in vascular endothelial growth factor and technique failure was associated with a polymorphism in the IL-1 receptor antagonist.ConclusionsThere is evidence that characteristics of the peritoneal membrane and clinical outcomes for PD patients have genetic determinants. The most consistent association was between IL-6 gene polymorphisms and peritoneal membrane solute transport.

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Verloop, Herman, Olaf M. Dekkers, Robin P. Peeters, Jan W. Schoones e Johannes W. A. Smit. "GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans". European Journal of Endocrinology 171, n.º 3 (setembro de 2014): R123—R135. http://dx.doi.org/10.1530/eje-14-0302.

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Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation.

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Somberg, John C. "Genetic Polymorphisms". American Journal of Therapeutics 9, n.º 4 (julho de 2002): 271. http://dx.doi.org/10.1097/00045391-200207000-00001.

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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy". European Psychiatry 41, S1 (abril de 2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.

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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, paliperidone palmitate, risperidon and aripiprazole), were examined. We carried out a blood sampling to evaluate dopaminergic DRD2 and glutamatergic GRM3 genetic receptors polymorphisms. PANSS and BPRS scales were used to assess clinical condition.ResultsRegarding the GRM3 genes, the study of rs2228595 and rs6465084 polymorphisms showed a prevalence of wild type genotypic frequency of 81.2% and 56.2%, respectively. The prevalence of the patients with mutated heterozygote genotype (rs6465084 polymorphisms) resulted high (40.6%). Considering rs1989796 e rs274622 polymorphisms, the sample showed a prevalence of mutated heterozygote genotype in the 53.1% e 45.3%, respectively, with a percentage of 43.7% of patients with a mutation in homozygosis. Considering the rs146812 polymorphism, the 53.1% of patients resulted with a wild type genotype. Finally, findings showed a prevalence of 56.2% for the mutated heterozygote genotype in the DRD2 rs6277 polymorphism. The genotypic categorization analysis demonstrated a significative association between the GRM3 rs274622 polymorphism and higher BPRS scores.ConclusionsThe relationship between rs274622 polymorphism and worse clinical conditions could indicate a major resistance to long-acting antipsychotics in patients with genotypic frequency CT (mutated heterozygosis) for this polymorphism.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Muiño, Elena, Jurek Krupinski, Caty Carrera, Cristina Gallego-Fabrega, Joan Montaner e Israel Fernández-Cadenas. "An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes". Mediators of Inflammation 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/569714.

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Inflammation has been associated with atherothrombotic stroke and recently with cardioembolic stroke. Different genetic risk factors have been specifically associated with the subtypes of ischemic stroke (cardioembolic, atherothrombotic, and lacunar). However, there are no studies that have generated genetic risk scores for the different subtypes of ischemic stroke using polymorphisms associated with inflammation.Methods.We have analyzed 68 polymorphisms of 30 inflammatory mediator genes in 2,685 subjects: 1,987 stroke cases and 698 controls. We generated a genetic scoring system with the most significant polymorphisms weighted by the odds ratio of every polymorphism and taken into consideration the stroke subtype.Results.Three polymorphisms, rs1205 (CRPgene), rs1800779, and rs2257073 (NOS3gene), were associated with cardioembolic stroke (pvalue<0.05). The score generated was only associated with the cardioembolic stroke subtype (pvalue: 0.001) and was replicated in an independent cohort (pvalue: 0.017). The subjects with the highest score presented a cardioembolic stroke in 92.2% of the cases (pvalue: 0.002).Conclusion.The genetics of inflammatory markers is more closely associated with cardioembolic strokes than with atherothrombotic or lacunar strokes. The genetic risk scoring system could be useful in the prediction and differentiation of ischemic stroke; however, it might be specific to particular ischemic stroke subtypes.

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Makowska-Kaczmarska, Marzena, Anna Okoń e Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment". Forum Ortodontyczne 13, n.º 1 (1 de março de 2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.

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Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed. Special attention was placed on the latest studies on the human genome, especially focused on gene polymorphisms in the global population. Summary. Pathogenesis of root resorption during orthodontic treatment is complex. Its background is undoubtedly genetic. Gene polymorphism is important. The role of polymorphism of the interleukin-1B gene and other genes in the interleukin-1 cluster draws special attention. Identification of genetic factors that play an important role in the aetiology of root resorption may in the future help to identify patients susceptible to such complications even before the beginning of orthodontic treatment. Potential possibilities of DNA testing in clinical practice are enormous. The role of individual gene polymorphisms in the pathogenesis of root resorption has not been yet explained in detail and further multicentre studies are necessary. At this stage of studies no reliable markers have been detected in order to predict which patients would develop this complication. (Makowska- Kaczmarska M, Okoń A, Olszewska E. Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment. Orthod Forum 2017; 13: 36-42).

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Simmonds, Rachel, José Hermida, Suely Rezende e David Lane. "Haemostatic Genetic Risk Factors in Arterial Thrombosis". Thrombosis and Haemostasis 86, n.º 07 (2001): 374–85. http://dx.doi.org/10.1055/s-0037-1616235.

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SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membrane glycoprotein receptors. This article describes the polymorphisms and evaluates the results of these studies using the premises of consistency of within-report genotype/phenotype/disease relationships and consistency of outcome between studies. Many studies have been only of association between polymorphisms and disease, a type of study that is prone to error. Furthermore, the collective outcome of these studies has primarily been inconsistent. It is concluded that despite the early promise of polymorphisms as risk factors, fresh approaches differing in scale and design are now required to clarify their possible importance.

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Kasyanov, E. D., T. V. Zhilyaeva e G. E. Maso. "Association of affective disorders and MTHFR, MTR, and MTRR gene polymorphisms: preliminary results of a family study". Neurology, Neuropsychiatry, Psychosomatics 14, n.º 5 (21 de outubro de 2022): 13–21. http://dx.doi.org/10.14412/2074-2711-2022-5-13-21.

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Genetic polymorphisms associated with impaired one-carbon metabolism (1-CM) can be a risk factor not only for somatic and neurological diseases, but also for affective disorders (AD).Objective: to compare the frequency of genetic polymorphisms MTHFR, MTR, MTRR associated with 1-CM disorders among patients with AD, their blood relatives and healthy individuals.Patients and methods. This cross-sectional study of the frequency of genetic polymorphisms (MTHFR, MTR, MTRR) associated with 1-CM included patients with AD (n=24), their blood relatives (n=40), as well as a group of healthy individuals (n=35). All study participants underwent a structured diagnostic interview, as well as genetic analysis using real-time polymerase chain reaction.Results and discussion. Patients with AD were statistically more likely to carry the minor allele C of the 1298A>C polymorphism of the MTHFR gene and the minor allele G of the 2756A>G polymorphism of the MTR gene compared to the group of healthy individuals. The minor allele T of the 677C>T polymorphism of the MTHFR gene was associated with longer depressive episodes, as well as with the presence of concomitant cardiovascular diseases in blood relatives of patients with AD.Conclusion. Genetic polymorphisms associated with 1-CM may contribute to familial aggregation of AD and somatic diseases. Further highquality family studies using molecular genetic methods are needed.

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KISELEVA, T. A., F. V. VALEEVA, D. R. ISLAMOVA e M. S. MEDVEDEVA. "Genetic aspects of type 2 diabetes mellitus". Practical medicine 21, n.º 3 (2023): 14–18. http://dx.doi.org/10.32000/2072-1757-2023-3-14-18.

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Type 2 diabetes mellitus (DM2) is a polygenic, multifactorial disease resulting from the interaction of genetic, epigenetic and environmental factors. Given the significant genetic and genomic research in this area, the role of genetic factors in the pathogenesis of DM2 is becoming increasingly clear. The review presents current information in the genetics of DM2, describes the technology of genome wide-associated system (GWAS) based on high-resolution biochips for the simultaneous analysis of thousands of genetic variants in a large number of patients. Due to the use of genome-wide studies, about 100 genes and more than 700 polymorphisms associated with T2DM have been described. The review provides a description of the most common genes and their polymorphisms (TCF7L2, KCNJ11, PPARG) identified by the GWAS method and showing a strong association with T2DM in various populations. In addition, the article notes the role of the ADRB2 gene, whose polymorphisms can also contribute to the development of carbohydrate metabolism disorders. The results of a study on the assessment of the relationship between the rs1042714 ADRB2 polymorphism and indicators of carbohydrate metabolism in different periods of life of overweight and obese women are presented.

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Teses / dissertações sobre o assunto "Genetic polymorphisms"

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Karlsson, Sten. "Dynamics of genetic polymorphisms". Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2005. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-1992.

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Howell, Bruce F. "The Use of Genetic Polymorphisms and Discriminant Analysis in Evaluating Genetic Polymorphisms as a Predictor of Population". Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3138/.

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Discriminant analysis is a procedure for identifying the relationships between qualitative criterion variables and quantitative predictor variables. Data bases of genetic polymorphisms are currently available that group such polymorphisms by ethnic origin or nationality. Such information could be useful to entities that base financial determinations upon predictions of disease or to medical researchers who wish to target prevention and treatment to population groups. While the use of genetic information to make such determinations is unlawful in states and confidentiality and privacy concerns abound, methods for human “redlining” may occur. Thus, it is necessary to investigate the efficacy of the relationship of certain genetic information to ethnicity to determine if a statistical analysis can provide information concerning such relationship. The use of the statistical technique of discriminant analysis provides a tool for examining such relationship.

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黎子韻 e Tsz-wan Kristi Lai. "Genetic polymorphisms in ovarian cancer". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31970618.

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Lai, Tsz-wan Kristi. "Genetic polymorphisms in ovarian cancer". Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.

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Wasfi, Yasmine S. "Apoptosis-related genetic polymorphisms in sarcoidosis /". Connect to full text via ProQuest. IP filtered, 2005.

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Marsh, Howard Piers. "Genetic polymorphisms in bladder cancer angiogenesis". Thesis, University of Bristol, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428513.

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Loh, Yong-Hwee Eddie. "Genetic variation in fast-evolving East African cichlid fishes: an evolutionary perspective". Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.

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Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East African cichlids. We generated a valuable cichlid genomic resource of five low-coverage Lake Malawi cichlid genomes, from which the general properties of the genome were characterized. Nucleotide diversity of Malawi cichlids was low at 0.26%, and a sample genotyping study found that biallelic polymorphisms segregate widely throughout the Malawi species flock, making each species a mosaic of ancestrally polymorphic genomes. A second genotyping study expanded our evolutionary analysis to cover the entire East African cichlid radiation, where we found that more than 40% of single nucleotide polymorphisms (SNPs) were ancestral polymorphisms shared across multiple lakes. Bayesian analysis of genetic structure in the data supported the hypothesis that riverine species had contributed significantly to the genomes of Malawi cichlids and that Lake Malawi cichlids are not monophyletic. Both genotyping studies also identified interesting loci involved in important sensory as well as developmental pathways that were well differentiated between species and lineages. We also investigated cichlid genetic variation in relation to the evolution of microRNA regulation, and found that divergent selection on miRNA target sites may have led to differential gene expression, which contributed to the diversification of cichlid species. Overall, the patterns of cichlid genetic variation seem to be dominated by the phenomena of extensive sharing of ancestral polymorphisms. We thus believe that standing genetic variation in the form of ancestrally inherited polymorphisms, as opposed to variations arising from new mutations, provides much of the genetic diversity on which selection acts, allowing for the rapid and repeated adaptive radiation of East African cichlids.

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Lanchbury, J. S. S. "Studies of genetic polymorphisms in human populations". Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.371918.

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Hennig, Branwen Johanna Wanda. "Genetic polymorphisms and early-onset periodontal diseases". Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311107.

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Wang, Wei. "Plasminogen polymorphism in dairy cattle". Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=26174.

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A genetic approach to lowering protease (plasmin) levels in milk, requires the presence of polymorphism of bovine plasminogen. This study was conducted to determine to what extent genetic polymorphism exists in dairy cattle. Bovine plasminogen was first purified from Holstein cow plasma by affinity chromatography on Lysine-Sepharose and antibodies to bovine plasminogen were raised by monthly intramuscular injection of the isolated bovine plasminogen into rabbits. For plasminogen phenotyping, blood samples were collected at random from 50 Holstein and Ayrshire cattle, and plasminogen was isolated from the plasma using lysine-Sepharose and then treated with neuraminidase. After separation by isoelectric focusing (pH 3.5-9.5) in polyacrylamide gels, Plasminogen polymorphs were detected immunologically using rabbit anti-bovine plasminogen antibodies. Additionally, the plasminogen isoforms were evaluated with a functional assay (caseinolytic overlay technique) after activation of the plasminogen with urokinase. Six plasminogen phenotypes were identified which represent products of 5 variant alleles. The 5 plasminogen variants were characterized based on their isoelectric points and designated PLG A$ sb2$ (pI 6.5 and 7.0), B$ sb2$ (pI 7.6 and 7.8), C$ sb1$ (pI 6.8), D$ sb2$ (pI 7.8 and 8.0), and E$ sb2$ (pI 6.8 and 7.0). PLG A$ sb2$ and PLG B$ sb2$ were the most common variants in these cattle. The 6 phenotypes were $ rm A sb2A sb2, B sb2B sb2, A sb2B sb2, B sb2C sb1, A sb2D sb2 and D sb2E sb2$. The phenotypic frequencies in Holstein and Ayrshire were very different, $ rm A sb2A sb2 and B sb2B sb2$ being respectively the most frequent phenotype. In addition, DNA polymorphism at bovine plasminogen gene was detected when genomic DNA was digested with the restriction enzyme Msp I and hybridized with mouse plasminogen cDNA. This is the first description of plasminogen polymorphism reported in dairy cattle. If different variants have altered activity, the detrimental effect

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Livros sobre o assunto "Genetic polymorphisms"

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1953-, Cronin M. T., e Miller Mark Steven 1956-, eds. Genetic polymorphisms and susceptibility to disease. London: Taylor & Francis, 2000.

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D, Varfolomeyev S., e Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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D, Varfolomeyev S., e Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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Ueland, Per Magne, e Rima Rozen. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience, 2005.

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May-Jean, King, ed. Human blood cells: Consequences of genetic polymorphisms and variations. London: Imperial College Press, 2000.

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Paolo, Vineis, e International Agency for Research on Cancer., eds. Metabolic polymorphisms and susceptibility to cancer. Lyon, France: International Agency for Research on Cancer, 1999.

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Magne, Ueland Per, e Rozen Rima, eds. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience/ Eurekah.com, 2005.

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Endre, Czeizel, Benkmann Heide-G. 1942- e Goedde H. W, eds. Genetics of the Hungarian population: Ethnic aspects, genetic markers, ecogenetics, and disease spectrum. Berlin: Springer Verlag, 1991.

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NATO Advanced Research Workshop on DNA Polymorphisms as Disease Markers (1990 London, England). DNA polymorphisms as disease markers. New York: Plenum Press, 1991.

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Korochkin, L. I. (Leonid Ivanovich), ed. Polimorfizm belkov i ego znachenie v genetike i selekt͡sii. Moskva: "Nauka", 1985.

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Capítulos de livros sobre o assunto "Genetic polymorphisms"

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Anagnostopoulou, Katherine, e Genovefa Kolovou. "Genetic Polymorphisms". In Introduction to Translational Cardiovascular Research, 111–28. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-08798-6_7.

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Galik, Elizabeth, Shin Fukudo, Yukari Tanaka, Yori Gidron, Tavis S. Campbell, Jillian A. Johnson, Kristin A. Zernicke et al. "Genetic Polymorphisms". In Encyclopedia of Behavioral Medicine, 847. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_694.

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Brahmachari, Vani, e Shruti Jain. "Genetic Polymorphisms". In Encyclopedia of Systems Biology, 824. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-9863-7_867.

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Varela, Nelson M., Leslie C. Cerpa, Matías M. Martínez e Luis A. Quiñones. "Pharmacogenomics: Genetic Polymorphisms". In The ADME Encyclopedia, 890–99. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-84860-6_125.

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Varela, Nelson M., Leslie C. Cerpa, Matías M. Martínez e Luis A. Quiñones. "Pharmacogenomics: Genetic Polymorphisms". In The ADME Encyclopedia, 1–10. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-51519-5_125-1.

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Qidwai, Tabish. "iNOS Genetic Polymorphisms". In Exploration of Host Genetic Factors associated with Malaria, 101–12. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-4761-8_9.

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Qidwai, Tabish. "TNF Genetic Polymorphisms". In Exploration of Host Genetic Factors associated with Malaria, 91–100. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-4761-8_8.

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Aga, Syed Sameer, Mujeeb Zafar Banday, Saniya Nissar, Mansour Al Qurashi, Abdullah A. Awadh, Alqassem Y. Hakami e A. Malli. "Vitamin D Receptor Polymorphisms and Diseases". In Genetic Polymorphism and Disease, 185–98. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-7.

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Motulsky, Arno G. "Genetic Approaches to Common Diseases". In DNA Polymorphisms as Disease Markers, 1–4. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4615-3690-1_1.

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Silverman, Eric S., Kwang H. In, Tucker Collins e Jeffrey M. Drazen. "Genetic polymorphisms of 5-LO". In Novel Inhibitors of Leukotrienes, 147–64. Basel: Birkhäuser Basel, 1999. http://dx.doi.org/10.1007/978-3-0348-8703-8_10.

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Trabalhos de conferências sobre o assunto "Genetic polymorphisms"

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Rezende, Rubens Barbosa, e Larissa Teodoro. "Presence of genetic polymorphisms may impact on predisposition to Parkinson’s disease". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.004.

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Introduction: Parkinson’s disease (PD) is characterized by the degeneration and loss of dopaminergic neurons in the black substantia and the formation of Lewy bodies, thus being considered a neurodegenerative disease. Thus, the objective was to understand the impact of polymorphisms in the predisposition to PD. Methods: It’s a narrative review of literature in the PubMed and SciELO databases, using the descriptors: “Polymorphism, Single Nucleotide” and “Parkinson disease”, registered in DeCS/MeSH, and using the Boolean operator AND. The inclusion criteria were: complete articles and made available free of charge, published in English, Spanish and Portuguese, between 2016 and January 2021. Results: After the research, 167 publications were found and seven were included. The data from the first study indicate that the rs33949390 of the LRRK2 gene helps in predisposition to PD in Asian populations, mainly Chinese. The second study indicated that the NFE2L2 rs6721961 allele was linked to a reduced risk of PD. The third study found that the GSK3B rs1732170, STK11 rs8111699, SNCA rs356219 and FCHSD1 rs456998 polymorphisms were linked to a high risk of PD. The fourth study found that the SNCA variants rs7684318, rs356220, rs356203 and rs2736990 were linked to the disease and were at high risk of developing PD in the Mexican population. The fifth and sixth study are meta-analyzes, the fifth confirming the lower allele rs11558538 of HNMT is associated with a reduced risk of developing PD. And the sixth assumes a possible link between CCDC62 rs12817488 and the risk of PD in the Chinese population. Conclusion: However, the analyzed data indicate that the polymorphisms contributed to the susceptibility to PD, however further studies related to the polymorphisms and their relationship to PD are still needed for more ethnic groups, and thus early diagnosis is possible.

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Kuzmina, L. P., A. G. Khotuleva e M. M. Kolyaskina. "GENETIC POLYMORPHISM OF CYTOKINES FOR OCCUPATIONAL BRONCHO OBSTRUCTIVE DISEASES DEVELOPMENT RISK AND PROGNOSIS ASSESSMENT". In The 17th «OCCUPATION and HEALTH» Russian National Congress with International Participation (OHRNC-2023). FSBSI «IRIOH», 2023. http://dx.doi.org/10.31089/978-5-6042929-1-4-2023-1-265-268.

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One of the significant systems in the pathogenesis of lung diseases is the system of cytokines. Genetic polymorphism of cytokines can be associated with different levels of cytokine production when exposed to a stimulus of the same intensity in response to antigenic irritation, or tissue damage, which can determine individual sensitivity to chemicals. The purpose of this study was to evaluate the presence of associations of single nucleotide polymorphisms of cytokine genes with the development and severity of occupational bronchoobstructive diseases, taking into account the specifics of occupational factors. Materials and methods. Examined groups: COPD from exposure to welding aerosol (n=32), asthma from exposure to high-molecular allergens of organic origin (n=31), from exposure to low-molecular chemical allergens (n=37), from exposure to metal-allergens (n=68), group comparison — without lung diseases (n=200). Genotyping of polymorphisms TNF-α G308A, IL‑6 С174G, IL‑4 С589Т, IL‑10 G1082A was carried out. Results. The association of single nucleotide polymorphisms of the TNF-α gene with the development of occupational asthma from exposure to low-molecular chemical allergens (OR=2.043; 95% CI 1.050‑3.975), the association of IL‑10 gene with the development of COPD from exposure to welding aerosol (OR=2.653; 95% CI 1.211‑5.815) was determined, the IL‑6 gene — with the severity of asthma from exposure to low-molecular chemical allergens, the IL‑4 gene — with the severity of asthma from exposure to metal allergens. Conclusion. The differential informative value of the detection of single nucleotide polymorphisms of cytokine genes as risk markers for the development and severe course of bronchoobstructive diseases, depending on the specifics of occupational factors, was determined.

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Khammadov, N. I., A. I. Khamidullina, K. V. Usoltsev e T. Kh Faizov. "GENETIC POLYMORPHISMS OF FOOT AND MOUTH DISEASE VIRUS". In Molecular Diagnostics and Biosafety. Federal Budget Institute of Science 'Central Research Institute for Epidemiology', 2020. http://dx.doi.org/10.36233/978-5-9900432-9-9-247.

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Urbano, D., E. Puerta, M. Cañadas, A. Perez, L. Gutierrez e MA Calleja. "PKP-004 Genetic polymorphisms associated with colorectal cancer risk". In 22nd EAHP Congress 22–24 March 2017 Cannes, France. British Medical Journal Publishing Group, 2017. http://dx.doi.org/10.1136/ejhpharm-2017-000640.432.

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Padukudru Anand, Mahesh, Sangeetha Visweshwaraiah, Ramachandra Nallur, Jayaraj Biligere, Chaya Sindaghatta e Amrutha Holla. "Association between genetic polymorphisms ofADAM33with asthma and its phenotypes". In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa1230.

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Smatti, Maria K., Yasser Al-Sarraj, Omar Albagha e Hadi M. Yassine. "Host Genetic Variants Potentially Associated with SARS-Cov-2: A Multi-Population Analysis". In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0298.

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Background: Clinical outcomes of Coronavirus Disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) showed enormous inter-individual and interpopulation differences, possibly due to host genetics differences. Earlier studies identified single nucleotide polymorphisms (SNPs) associated with SARS-CoV-1 in Eastern Asian (EAS) populations. In this report, we aimed at exploring the frequency of a set of genetic polymorphisms that could affect SARS-CoV-2 susceptibility or severity, including those that were previously associated with SARS-CoV-1. Methods: We extracted the list of SNPs that could potentially modulate SARS-CoV-2 from the genome wide association studies (GWAS) on SARS-CoV-1 and other viruses. We also collected the expression data of these SNPs from the expression quantitative trait loci (eQTLs) databases. Sequences from Qatar Genome Programme (QGP, n=6,054) and 1000Genome project were used to calculate and compare allelic frequencies (AF). Results: A total of 74 SNPs, located in 10 genes: ICAM3, IFN-γ, CCL2, CCL5, AHSG, MBL, Furin, TMPRSS2, IL4, and CD209 promoter, were identified. Analysis of Qatari genomes revealed significantly lower AF of risk variants linked to SARS-CoV-1 severity (CCL2, MBL, CCL5, AHSG, and IL4) compared to that of 1000Genome and/or the EAS population (up to 25-fold change). Conversely, SNPs in TMPRSS2, IFN-γ, ICAM3, and Furin were more common among Qataris (average 2-fold change). Inter-population analysis showed that the distribution of risk alleles among Europeans differs substantially from Africans and EASs. Remarkably, Africans seem to carry extremely lower frequencies of SARS-CoV-1 susceptibility alleles, reaching to 32-fold decrease compared to other populations. Conclusion: Multiple genetic variants, which could potentially modulate SARS-CoV-2 infection, are significantly variable between populations, with the lowest frequency observed among Africans. Our results highlight the importance of exploring population genetics to understand and predict COVID-19 outcomes. Indeed, further studies are needed to validate these findings as well as to identify new genetic determinants linked to SARS-CoV-2.

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Casañas-Sánchez, V., R. Ramos-Díaz, S. García Gil, J. Nazco Casariego, MM Viña Romero, G. González de la Fuente e F. Gutiérrez Nicolás. "PKP-005 Determination of genetic polymorphisms affecting metabolism of thiopurines". In 22nd EAHP Congress 22–24 March 2017 Cannes, France. British Medical Journal Publishing Group, 2017. http://dx.doi.org/10.1136/ejhpharm-2017-000640.433.

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Deng, Xinqing, Martha J. Shrubsole, Reid M. Ness, Jirong Long, Qiuyin Cai, Zhi Chen, Xiangzhu Zhu et al. "Abstract 2859: Genetic polymorphisms in thePTHandPTHR1genes and colorectal adenoma risk". In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2859.

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Chamizo, E., E. González, C. Carrasco, S. Rojas, J. J. Aznar, P. Dorado e A. Llerena. "SAT0693 Genetic polymorphisms and efficacy of metothrexate in rheumatoid arthritis". In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.3047.

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El Ali, Mazen, Robert Goodloe e Sanjay Patel. "Effect Of Genetic Polymorphisms On Diabetes In Obstructive Sleep Apnea". In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6084.

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Relatórios de organizações sobre o assunto "Genetic polymorphisms"

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Raftogianis, Rebecca B. UGT1A9 Genetic Polymorphisms and Raloxifene Pharmacogenetics. Fort Belvoir, VA: Defense Technical Information Center, maio de 2002. http://dx.doi.org/10.21236/ada405339.

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Raftogianis, Rebecca B. UGT1A9 Genetic Polymorphisms and Raloxifene Pharmacogenetics. Fort Belvoir, VA: Defense Technical Information Center, maio de 2003. http://dx.doi.org/10.21236/ada416490.

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Bhaskar Kalarani, Iyshwarya, e Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, outubro de 2022. http://dx.doi.org/10.54985/peeref.2210p6305148.

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Adams-Campbell, Lucile L. Diet, Genetic Polymorphisms and Breast Cancer in African-Americans. Fort Belvoir, VA: Defense Technical Information Center, outubro de 2001. http://dx.doi.org/10.21236/ada398502.

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Adams-Campbell, Lucille L. Diet Genetic Polymorphisms and Breast Cancer in African-Americans. Fort Belvoir, VA: Defense Technical Information Center, outubro de 2002. http://dx.doi.org/10.21236/ada416961.

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Beckmann, Jacques, Benjamin Burr e Moshe (Morris) Soller. Restriction Fragment Length Polymorphisms in Varietal Identification and Genetic Improvement. United States Department of Agriculture, agosto de 1986. http://dx.doi.org/10.32747/1986.7598901.bard.

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu e George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, janeiro de 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) determine causative polymorphisms based on concordance between the bulls’ genotypes for specific polymorphisms and their status for a QTL; (4) validate putative quantitative trait variants by genotyping a sample of Israeli Holstein cows; and (5) perform gene expression analysis using statistical methodologies, including determination of signatures of selection, based on somatic cells of cows that are homozygous for contrasting quantitative trait variants; and (6) analyze genes with putative quantitative trait variants using data mining techniques. Current methods for genomic evaluation are based on population-wide linkage disequilibrium between markers and actual alleles that affect traits of interest. Those methods have approximately doubled the rate of genetic gain for most traits in the U.S. Holstein population. With determination of causative polymorphisms, increasing the accuracy of genomic evaluations should be possible by including those genotypes as fixed effects in the analysis models. Determination of causative polymorphisms should also yield useful information on gene function and genetic architecture of complex traits. Concordance between QTL genotype as determined by the a posteriori granddaughter design and marker genotype was determined for 30 trait-by-chromosomal segment effects that are segregating in the U.S. Holstein population; a probability of <10²⁰ was used to accept the null hypothesis that no segregating gene within the chromosomal segment was affecting the trait. Genotypes for 83 grandsires and 17,217 sons were determined by either complete sequence or imputation for 3,148,506 polymorphisms across the entire genome. Variant sites were identified from previous studies (such as the 1000 Bull Genomes Project) and from DNA sequencing of bulls unique to this project, which is one of the largest marker variant surveys conducted for the Holstein breed of cattle. Effects for stature on chromosome 11, daughter pregnancy rate on chromosome 18, and protein percentage on chromosome 20 met 3 criteria: (1) complete or nearly complete concordance, (2) nominal significance of the polymorphism effect after correction for all other polymorphisms, and (3) marker coefficient of determination >40% of total multiple-regression coefficient of determination for the 30 polymorphisms with highest concordance. The missense polymorphism Phe279Tyr in GHR at 31,909,478 base pairs on chromosome 20 was confirmed as the causative mutation for fat and protein concentration. For effect on fat percentage, 12 additional missensepolymorphisms on chromosome 14 were found that had nearly complete concordance with the suggested causative polymorphism (missense mutation Ala232Glu in DGAT1). The markers used in routine U.S. genomic evaluations were increased from 60,000 to 80,000 by adding markers for known QTLs and markers detected in BARD and other research projects. Objectives 1 and 2 were completely accomplished, and objective 3 was partially accomplished. Because no new clear-cut causative polymorphisms were discovered, objectives 4 through 6 were not completed.

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Salinas, Claudia A. Genetic Polymorphisms in Genes Involved in Inflammation and Prostate Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, fevereiro de 2008. http://dx.doi.org/10.21236/ada484491.

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Larcom, Barbara, Rosemarie Ramos, Lisa Lott, J. M. McDonald, Mark True, Michele Tavish, Heidi Beason, Lee Ann Zarzabel, James Watt e Debra Niemeyer. Genetic Risk Conferred from Single Nucleotide Polymorphisms Towards Type II Diabetes Mellitus. Fort Belvoir, VA: Defense Technical Information Center, fevereiro de 2013. http://dx.doi.org/10.21236/ada573655.

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Ozcelik, Hilmi, e Julia A. Knight. Microarray Technology to Study the Role of Genetic Polymorphisms in Breast Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, julho de 2002. http://dx.doi.org/10.21236/ada406970.

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