Relevant bibliographies by topics / Medical genetics Medical genetics

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Medical genetics Medical genetics'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 February 2022

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Journal articles on the topic "Medical genetics Medical genetics"

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Stoll, Claude. "Clinical genetics: Medical genetics." European Journal of Human Genetics 14, no. 5 (April 25, 2006): 587. http://dx.doi.org/10.1038/sj.ejhg.5201601.

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Fletcher, John C., and Dorothy C. Wertz. "Medical Genetics." Hastings Center Report 18, no. 6 (December 1988): 48. http://dx.doi.org/10.2307/3563051.

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Babovic-Vuksanovic, Dusica. "Medical Genetics." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1055–56. http://dx.doi.org/10.4065/74.10.1055-b.

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Blackburn, Susan. "Medical Genetics." Journal of Perinatal & Neonatal Nursing 18, no. 1 (January 2004): 74–75. http://dx.doi.org/10.1097/00005237-200401000-00012.

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Babovic-Vuksanovic, Dusica. "Medical Genetics." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1055–56. http://dx.doi.org/10.1016/s0025-6196(11)64018-4.

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Reardon, W. "Medical genetics." Journal of Medical Genetics 42, no. 11 (June 15, 2005): 880. http://dx.doi.org/10.1136/jmg.2005.034645.

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Pinel, T. "Medical Genetics." British Journal of Biomedical Science 68, no. 1 (January 2011): 51. http://dx.doi.org/10.1080/09674845.2011.11978204.

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Hughes, Mark R. "Medical Genetics." JAMA: The Journal of the American Medical Association 265, no. 23 (June 19, 1991): 3132. http://dx.doi.org/10.1001/jama.1991.03460230082021.

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Cox, D. R. "Medical genetics." JAMA: The Journal of the American Medical Association 268, no. 3 (July 15, 1992): 368–69. http://dx.doi.org/10.1001/jama.268.3.368.

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Korenberg, Julie R. "Medical Genetics." JAMA: The Journal of the American Medical Association 273, no. 21 (June 7, 1995): 1692. http://dx.doi.org/10.1001/jama.1995.03520450062031.

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Dissertations / Theses on the topic "Medical genetics Medical genetics"

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Rodas, Perez M. C. "Medical genetics in Colombia : genetic consultation and counselling in five genetic clinics." Thesis, University of Warwick, 2012. http://wrap.warwick.ac.uk/46980/.

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Today genetic services including genetic counselling are widespread across the world. Although developing countries, like Colombia, have started to apply genetic knowledge to the health area, genetic counselling is usually integrated in the routine clinical genetic consultation, however, before this study the process of communication involved in it had not been explored. In collaboration with the Colombian Association of Medical Genetics, the Bogotá Health Service, and the University of Warwick (UK), I observed 25 genetic consultations in five Colombian genetic clinics. I undertook semi-structured interviews with patients / families before and after the consultation. Thematic analysis of the interview transcripts established mismatches between physician perception and patient comprehension. Efficient communication was affected by patient, relatives, practitioner and external factors. Among these environmental factors were excessive administrative procedures, interruptions during the encounter, patients‟ lack of interest to medical terminology, doctors using scientific language, excessive information given in one session, beliefs and education level of the patient and/or relatives, patient distress caused by bad news, unfulfilled expectations and no availability/accessibility of treatment. I also interviewed 20 medical practitioners working in genetics services. There was general agreement that genetic counselling in Colombia was challenging, and that more training in communication skills was required at Medical schools at undergraduate and postgraduate level. Many physicians did not believe that other health professionals should work as genetic counsellors. There was a general recognition of limited genetic knowledge, awareness and understanding in most medical specialities. These results have made a valuable contribution to describe the current situation with genetics consultation and counselling in Colombian genetic clinics, and have already influenced the future development of an effective and robust genetic counselling service in Colombia. They will also be used in the development of the academic curriculum related to basic and clinical genetics at Colombian Universities.
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Leeming, William J. "Medical specialization and medical genetics in Canada (1947 and after)." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0001/NQ43440.pdf.

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Martin, Hilary Chenevix. "Genomic approaches to medical and population genetics." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:44fc9605-a2a8-4b91-9ea9-989fb8203d27.

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Over the last fifteen years, rapid advances in genotyping and DNA sequencing technologies have revolutionised genetic and biomedical research. In this thesis, we present some applications of these technologies in studying rare disease, population genetics and meiotic recombination. We begin by reviewing previous research in these areas in Chapter 1. Then in Chapter 2, we present some case studies of Mendelian neurological disorders that were carried out as part of a large clinical whole-genome sequencing project, WGS500. These led to the discovery of several new genes for a type of severe early-onset epilepsy called Ohtahara Syndrome, and of a particularly interesting mutation that tentatively suggests a role for a glutamate receptor gene, GRIA3, in circadian rhythm control. In Chapter 3, we examine some general lessons learnt from the WGS500 project, including the utility of sequencing family members to reduce the number of candidate pathogenic variants, and the perils of focusing on candidate genes. Chapter 4 describes a population sequencing project on the platypus, in which we sequenced 58 samples from across the whole species range. Our results provide insights into the population structure and history of this fascinating mammal, and also into the ongoing evolution of its remarkable chain of ten sex chromosomes. Finally, in Chapter 5, we describe a study of the effect of maternal age on meiotic recombination, the largest of its kind to date. Our results from multiple cohorts suggest a small but significant positive effect of maternal age on the number of crossovers, but with substantial heterogeneity between cohorts that is likely due to sampling noise, though confounders may also play a role. These studies illustrate the power of genomic approaches for investigating fundamental biological processes at the population, individual and cellular levels.
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Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.
Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
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Freeze, Samantha. "Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center." University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631.

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Chuang, William 1970. "Design of a genetics database for medical research." Thesis, Massachusetts Institute of Technology, 2000. http://hdl.handle.net/1721.1/86291.

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Thesis (S.B. and M.Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2000.
Includes bibliographical references (leaves 54-57, first group).
by William Chuang.
S.B.and M.Eng.
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Miller, Fiona Alice. "A blueprint for defining health, making medical genetics in Canada, c. 1935-1975." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ56247.pdf.

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Ivansson, Emma. "Contribution of Immunogenetic Factors in Susceptibility to Cervical Cancer." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9552.

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Cervical cancer is the second most common cancer in women worldwide. Persistent infection by an oncogenic type of human papillomavirus (HPV) is a necessary but not sufficient cause and there is also a genetic component. This thesis aims to identify host genetic risk factors for cervical cancer based on the hypothesis that susceptibility is affected by genetic variation in the immune response towards HPV infection. Paper I analyzed allergy in sons and cervical cancer in their mothers, and revealed an inverse association between cervical cancer and allergy across generations. Mothers of allergic sons have a lower incidence of cervical cancer, supporting the importance of immunogenetic factors. Paper II investigated the HPV type in 1079 women diagnosed 1965-1993. All women were from families with at least two affected. It appeared that HPV 16 was becoming less common with time. There was no evidence that related women were prone to infection by the same type, indicating that the immunogenetic factors act in a general, rather than an HPV type specific, manner. Paper III and IV analysed the association of candidate genes with susceptibility to cervical cancer in 1306 women with cervical cancer in situ and 288 unrelated controls. Paper III showed the association of variation in the two immune response genes chemokine receptor 2 (CCR-2) and interleukin 4 receptor (IL-4R) with cervical cancer. In paper IV variation at several loci in the MHC region was studied and the importance of the HLA class II locus DQB1 emphasized. This thesis work supports the contribution of genes of the immune system to cervical cancer susceptibility. The genetic risk factors so far identified account for only a part of the genetic susceptibility, which implies that other yet undiscovered variants of importance remain to be identified.
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Andrews, Verity A. "Genetics and genomics in nursing : what are the characteristics of genetic nurse adopters and nurse opinion leaders in genetics and genomics?" Thesis, University of South Wales, 2012. https://pure.southwales.ac.uk/en/studentthesis/genetics-and-genomics-in-nursing(237c7d78-1001-4039-9c54-e694eae69dc9).html.

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Background. Aspects of genetics/genomics are increasingly being incorporated into medicine. Nurses are crucial in helping transform healthcare through genomic nursing (Loud, 2010). However the integration of genetics/genomics into nursing education has been sporadic (Dodson and Lewallen, 2011). Influencing its uptake into practice may be via nurses who are already utilising genetics/genomics in their practice (adopters) and nurses who may lead the way and encourage others (opinion leaders) to do likewise. Identifying the characteristics of such adopters and opinion leaders within nursing may provide useful information for more wide-scale detection of these individuals to support a strategy for the inclusion of genetics/genomics into nursing practice. Methods. Five change behaviour theories were used to inform the study including the Theory of Planned Behaviour and the Diffusion of Innovations. A mixed methods approach was taken over two phases. In Phase 1 experts in the field of genetics/genomics and nursing were contacted to gain a consensus on four potential genetic indicators of adoption (GIAs), which would identify a nurse who had adopted genetics/genomics. In Phase 2, oncology nurses and practice nurses completed a questionnaire to identify the characteristics and demographic indicators of nurse genetic adopters and opinion leaders. Results. A consensus (>75%) was achieved for all four GIAs to be included as indicators of adoption of genetics/genomics within nursing practice (Phase 1). Individuals identified (in Phase 2) were subcategorised into six different groups, including genetic adopters and opinion leaders. There were 18 identifying features that defined an adopter, with some of the main features being Openness to Experience (p<0.001), seeing the relevance of genetics/genomics to their patient group (p<0.001) and talking to colleagues about genetics/genomics (p<0.001). There were six features that identified an opinion leader, including academic achievement (p=0.007), level of perceived influence over others (p<0.001) and being high on the opinion leadership scale (p<0.001). Two of the biggest barriers to incorporation by nurses were lack of time for adopters and a lack of local study sessions for opinion leaders. Conclusion. It has been identified that nurses can be categorised in terms of their relationship to genetics/genomics, through a number of distinguishing characteristics. It will be important to further identify and clarify these and other characteristics through the development of additional tools. These data can inform approaches to promote a greater integration of genetics/genomics into nursing practice, ultimately improving patient healthcare.
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Nudel, Ron. "Molecular genetics of language impairment." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:70249129-ef2e-4508-b8f6-50d6eae8e78b.

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Developmental language impairments are neurodevelopmental disorders in which the acquisition of language, a task which children typically perform with ease, is hindered or fraught with difficulty. This work focuses on specific language impairment (SLI), a common and highly heritable language impairment in which language development is abnormal while other developmental domains are normal. Additionally, a case-study of a child with a broader linguistic and behavioural phenotype is also presented. The work described in this thesis includes both genetic and functional investigations which were aimed at identifying candidate genes for language impairment and provide insight into the genetic mechanisms that underlie language development. I performed a genome-wide association study of SLI which included child genotype effects, maternal genotype effects, parent-of-origin effects, and maternal-foetal interaction effects. This study found significant paternal parent-of-origin effects with the gene NOP9 on chromosome 14, and suggestive maternal parent-of-origin effects with a region on chromosome 5 which had previously been implicated in autism and ADHD. Case-control and quantitative association analyses of HLA genes and SLI identified several risk alleles and protective alleles. A case-control association analysis for related individuals which used an isolated population affected by SLI identified a non-synonymous coding variant in the gene NFXL1 which was significantly more frequent in affected individuals than in unaffected individuals. High-throughput sequencing of the coding regions of NFXL1 and LD blocks surrounding associated variants in ATP2C2, CMIP and CNTNAP2 (as reported in previous studies) identified novel or rare non-synonymous coding variants in NFXL1 and ATP2C2 in SLI families as well as intronic variants in all four genes that were significantly more frequent in SLI probands than in population controls. I describe a functional study of NFXL1 examining its expression in various brain regions, the presence of different splice variants across several tissues, its effect on genes it potentially interacts with, and the subcellular localisation of the protein. Finally, I present the case-study of a child with language impairment who had chromosomal rearrangements which spanned the location of FOXP2. I examine the potential influence the chromosomal rearrangements had on FOXP2 expression and describe a lincRNA gene which was disrupted by the chromosomal inversion. In conclusion, this work identified new candidate genes for language impairment, provided further support for the involvement of previously-identified candidate genes in SLI and contributed to the understanding of the molecular function of a newly-identified candidate gene for SLI.
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Books on the topic "Medical genetics Medical genetics"

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1946-, Carey John C., and Bamshad Michael J, eds. Medical genetics. 4th ed. Philadelphia: Mosby/Elsevier, 2010.

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Medical genetics. 2nd ed. St. Louis, Mo: Mosby, 2000.

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1946-, Carey John C., and White Raymond L. 1943-, eds. Medical genetics. St. Louis: Mosby, 1996.

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Jorde, Lynn B. Medical genetics. 4th ed. Philadelphia: Mosby/Elsevier, 2010.

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1946-, Carey John C., and White Raymond L. 1943-, eds. Medical genetics. St. Louis: Mosby, 1995.

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Medical genetics. Oxford: Oxford University Press, 2010.

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Sack, George H. Medical genetics. New York: McGraw-Hill, Health Professions Division, 1999.

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Chen, Harold. Medical genetics handbook. St. Louis, Mo., U.S.A: W.H. Green, 1988.

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Clinical genetics and genetic counseling. 2nd ed. Chicago: Year Book Medical Publishers, 1986.

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Hartl, Daniel L. Basic genetics. 2nd ed. Boston: Jones and Bartlett Publishers, 1991.

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Book chapters on the topic "Medical genetics Medical genetics"

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Rieder, Harald. "Medical Genetics." In Encyclopedia of Sciences and Religions, 1268–72. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-1-4020-8265-8_669.

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Hogan, Andrew J. "Medical Genetics." In A Companion to the History of American Science, 147–59. Chichester, UK: John Wiley & Sons, Ltd, 2015. http://dx.doi.org/10.1002/9781119072218.ch12.

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Bailey, Ernest, and Samantha A. Brooks. "Medical genetics." In Horse genetics, 153–67. Wallingford: CABI, 2020. http://dx.doi.org/10.1079/9781786392589.0153.

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Gardner, Aaron, Sarah Stauffer, Lindsay Petley-Ragan, Philip Wismer, and Dewi Ayu Kencana Ungu. "Medical Genetics." In Labster Virtual Lab Experiments: Genetics of Human Diseases, 45–56. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-58744-7_3.

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Hall, Nancy K., and Daniel L. Feeback. "Medical Genetics." In Oklahoma Notes, 31–46. New York, NY: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4684-0502-6_4.

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Tobin, Sara L. "Medical Genetics." In Oklahoma Notes, 247–87. New York, NY: Springer New York, 1995. http://dx.doi.org/10.1007/978-1-4612-4200-0_14.

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Edelmann, Lisa, Stuart Scott, Liu Liu, and Ruth Kornreich. "Molecular Medical Genetics." In Molecular Genetic Pathology, 529–59. New York, NY: Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-4800-6_20.

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Edelmann, Lisa, Stuart Scott, and Ruth Kornreich. "Molecular Medical Genetics." In Molecular Genetic Pathology, 417–40. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-59745-405-6_16.

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Scarpa, Aldo, Paola Capelli, and Ivana Cataldo. "Pathology and Genetics." In Medical Radiology, 11–18. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/174_2010_4.

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Zwitter, Matjaž. "Genetics." In Medical Ethics in Clinical Practice, 105–12. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-00719-5_15.

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Conference papers on the topic "Medical genetics Medical genetics"

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CZEIZEL, ANDREW E. "QUO VADIS MEDICAL GENETICS?" In Proceedings of the Conference on Future of the Universe and the Future of Our Civilization. WORLD SCIENTIFIC, 2000. http://dx.doi.org/10.1142/9789812793324_0024.

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"Adventures with large biomedical datasets: Diseases, medical records, environment and genetics." In 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2017. http://dx.doi.org/10.1109/bibm.2017.8217610.

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Arutyunov, Armenak Valerievich, Vladimir Viktorovich Volobuev, Elena Alexandrovna Badeeva, Tatyana Ivanovna Murashkina, and Yury Anatolyevich Vasilyev. "CONGENITAL MALFORMATIONS OF THE FACE IN CHILDREN OF A LARGE REGION OF RUSSIA: CURRENT STATE OF THE PROBLEM AND PROSPECTIVE DIAGNOSTIC SOLUTIONS." In International conference New technologies in medicine, biology, pharmacology and ecology (NT +M&Ec ' 2020). Institute of information technology, 2020. http://dx.doi.org/10.47501/978-5-6044060-0-7.16.

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Cleft lip and/or palate occupy a leading position among facial malformations. On the territory of the Krasnodar region, this pathology occurs in 1.01-1.15 cases per 1000 children. Therefore, it is important to improve the diagnostic base. The joint work of the Kuban state medical University staff with Institute of General genetics and Penza state University allowed to develop diagnostic methods based on molecular genetic analysis and using fiber-optic technologies.
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Chi, Hongmei, and Peter Beerli. "Poster: Quasi-Monte Carlo method in population genetics parameter estimation." In 2011 IEEE 1st International Conference on Computational Advances in Bio and Medical Sciences (ICCABS). IEEE, 2011. http://dx.doi.org/10.1109/iccabs.2011.5729891.

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Perva, Ciprian, Iulia-Teodora Perva, Dumitru Daniel Rusu, Nicoleta Andreescu, and Maria Puiu. "Web based application for improving the education quality of young medical genetics healthcare professionals." In 2017 E-Health and Bioengineering Conference (EHB). IEEE, 2017. http://dx.doi.org/10.1109/ehb.2017.7995386.

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Lorenzi, Marco, Boris Gutman, Paul M. Thompson, Daniel C. Alexander, Sebastien Ourselin, and Andre Altmann. "Secure multivariate large-scale multi-centric analysis through on-line learning: an imaging genetics case study." In 12th International Symposium on Medical Information Processing and Analysis, edited by Eduardo Romero, Natasha Lepore, Jorge Brieva, and Ignacio Larrabide. SPIE, 2017. http://dx.doi.org/10.1117/12.2256799.

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Lauer, Eric A., Brian D. Corner, Peng Li, Robert M. Beecher, and Curtis Deutsch. "Repeated-measure validation of craniofacial metrics from three-dimensional surface scans: application to medical genetics." In Electronic Imaging 2002, edited by Brian D. Corner, Roy P. Pargas, and Joseph H. Nurre. SPIE, 2002. http://dx.doi.org/10.1117/12.460171.

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LeDuc, Philip. "Linking Molecular to Cellular Biomechanics With Nano- and Micro-Technology." In ASME 2003 International Mechanical Engineering Congress and Exposition. ASMEDC, 2003. http://dx.doi.org/10.1115/imece2003-43987.

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The link between mechanics and biochemistry has been implicated in a myriad of scientific and medical problem, from orthopedics and cardiovascular medicine, to cell motility and division, to signal transduction and gene expression. Most of these studies have been focused on organ-level issues, yet cellular and molecular level research has become essential over the last decade in this field thanks to the revolutionary developments in genetics, molecular biology, fabrication processes, and biotechnology. Developing the link between molecular and cellular biomechanics through subcellular studies can help uncover the complex interactions requisite for understanding higher order macroscopic behavior. Here, we will explore the link between molecular and cellular research through novel systems of nano- and micro-technology. In this, I will discuss novel technologies that we have developed and are utilizing, which include magnetic needles, three-dimension cell stretching systems, and microfluidics to examine the link between mechanics and biochemistry (including structural regulation through the cytoskeleton). By combining these novel approaches between engineering and biology, this multidisciplinary research can make a tremendous impact on the studies of human health and diseases through advances in fields such as proteomics, tissue engineering, and medical diagnostics.
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Smith, Stephen L. "Medical applications of evolutionary computation." In GECCO '18: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3205651.3207873.

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Smith, Stephen L. "Medical Applications of Evolutionary Computation." In GECCO '16: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2016. http://dx.doi.org/10.1145/2908961.2926997.

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Reports on the topic "Medical genetics Medical genetics"

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Clemens, Jeffrey, and Stan Veuger. Risks to the Returns to Medical Innovation: The Case of Myriad Genetics. Cambridge, MA: National Bureau of Economic Research, August 2015. http://dx.doi.org/10.3386/w21469.

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Ghosh, Payel. Medical Image Segmentation Using a Genetic Algorithm. Portland State University Library, January 2000. http://dx.doi.org/10.15760/etd.25.

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Rajarajan, Kunasekaran, Alka Bharati, Hirdayesh Anuragi, Arun Kumar Handa, Kishor Gaikwad, Nagendra Kumar Singh, Kamal Prasad Mohapatra, et al. Status of perennial tree germplasm resources in India and their utilization in the context of global genome sequencing efforts. World Agroforestry, 2020. http://dx.doi.org/10.5716/wp20050.pdf.

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Tree species are characterized by their perennial growth habit, woody morphology, long juvenile period phase, mostly outcrossing behaviour, highly heterozygosity genetic makeup, and relatively high genetic diversity. The economically important trees have been an integral part of the human life system due to their provision of timber, fruit, fodder, and medicinal and/or health benefits. Despite its widespread application in agriculture, industrial and medicinal values, the molecular aspects of key economic traits of many tree species remain largely unexplored. Over the past two decades, research on forest tree genomics has generally lagged behind that of other agronomic crops. Genomic research on trees is motivated by the need to support genetic improvement programmes mostly for food trees and timber, and develop diagnostic tools to assist in recommendation for optimum conservation, restoration and management of natural populations. Research on long-lived woody perennials is extending our molecular knowledge and understanding of complex life histories and adaptations to the environment, enriching a field that has traditionally drawn its biological inference from a few short-lived herbaceous species. These concerns have fostered research aimed at deciphering the genomic basis of complex traits that are related to the adaptive value of trees. This review summarizes the highlights of tree genomics and offers some priorities for accelerating progress in the next decade.
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