Bibliografias temáticas / Genetic disorders

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Literatura científica selecionada sobre o tema "Genetic disorders"

Autor: Grafiati
Publicado: 4 de junho de 2021
Última modificação: 25 de julho de 2025

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Artigos de revistas sobre o assunto "Genetic disorders"

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Kaur, Harpreet, and Pradeep V S. "Genetic Disorders." International Journal of Renewable Energy Exchange 11, no. 10 (2023): 147–54. http://dx.doi.org/10.58443/ijrex.11.10.2023.147-154.

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Bishop, Kathleen Kirk. "Psychosocial Aspects of Genetic Disorders: Implications for Practice." Families in Society: The Journal of Contemporary Social Services 74, no. 4 (1993): 207–12. http://dx.doi.org/10.1177/104438949307400402.

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Generic disorders can potentially interfere with interpersonal relationships and normal social develop' ment as well as disrupt family life. As scientific and technological advances in medical genetics provide health professionals with a more comprehensive understanding of the origin, implications, and management of genetic disorders, professionals acquire expanded responsibilities. Social workers, who are often involved with individuals and families on a long-term basis, play an instrumental role in helping individuals and families make the necessary emotional and social adjustments following
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Leonard, J. V. "Genetic Biochemical Disorders." Journal of Medical Genetics 23, no. 4 (1986): 378. http://dx.doi.org/10.1136/jmg.23.4.378.

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Clayton, P. "Genetic Biochemical Disorders." Archives of Disease in Childhood 61, no. 5 (1986): 530. http://dx.doi.org/10.1136/adc.61.5.530-a.

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Bradley, David. "Simplifying genetic disorders." Genome Biology 1 (2000): spotlight—20001005–02. http://dx.doi.org/10.1186/gb-spotlight-20001005-02.

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Galjaard, Hans, and Arnold J. J. Reuser. "Genetic storage disorders." Current Opinion in Pediatrics 1, no. 2 (1989): 428–35. http://dx.doi.org/10.1097/00008480-198912000-00029.

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Carey, John C. "Genetic Skin Disorders." American Journal of Human Genetics 62, no. 4 (1998): 998. http://dx.doi.org/10.1086/301778.

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Maxwell, Peter. "Genetic renal disorders." Medicine 47, no. 8 (2019): 509–16. http://dx.doi.org/10.1016/j.mpmed.2019.05.007.

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Moss, Celia. "Genetic skin disorders." Seminars in Neonatology 5, no. 4 (2000): 311–20. http://dx.doi.org/10.1053/siny.2000.0020.

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Irons, Mira, and Harvey L. Levy. "Genetic biochemical disorders." Trends in Genetics 2 (January 1986): 326–27. http://dx.doi.org/10.1016/0168-9525(86)90292-1.

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Teses / dissertações sobre o assunto "Genetic disorders"

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Fung, Hon Chung. "Genetic characterisation of neurodegenerative disorders." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/4930/.

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Our global population is ageing and an ever increasing number of elderly are affected with neurodegenerative diseases, including the subjects of the studies in this work, Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). On strong evidence that several genes may influence the development of sporadic neurodegenerative diseases, the genetic association approach was used in the work of this thesis to identify the multiple variants of small effect that may modulate susceptibility to common, complex neurodegenerative diseas
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Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.

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Background: Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of making the diagnosis accurately early in the course and the lack of reliable disease progression markers which could be used in future treatment trials. Transcranial magnetic stimulation (TMS) is a non-invasive and pain-free method for assessment of brain function. Methods: Here we evaluated TMS and its potential of serving as a reliable bioma
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Migdalska, Anna Marta. "Modelling human genetic disorders in mice." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610341.

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Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.<br>Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).
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Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variat
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Valente, Enza Maria. "Movement disorders : a clinical and genetic study." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.

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Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide
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Liskova, P. "Molecular genetic study of inherited corneal disorders." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/18007/.

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The inherited corneal diseases form a clinically and genetically heterogeneous group of disorders. They include the various types of progressive corneal dystrophies as well as some corneal structural abnormalities for which there is thought to be a genetic basis. These conditions are distinct from the corneal degenerations that result solely from aging or environmental effects. In this thesis I have concentrated on some selected inherited disorders. To try to improve our understanding of the disease mechanisms I have phenotyped affected families, performed candidate gene screening, and made ge
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Chen, Huijia. "Skin barrier dysfunction in common genetic disorders." Thesis, University of Dundee, 2011. https://discovery.dundee.ac.uk/en/studentTheses/37ccdf72-e6b2-43e2-b5a0-954be5cb6811.

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One of the most important roles of the skin is the formation of an effective barrier to prevent desiccation as well as to keep out foreign pathogens and allergens. This is a tightly regulated process and involves many structural proteins, lipids, enzymes and biochemical components. One of the proteins that has an indispensable role in barrier formation is filaggrin, which is encoded by the filaggrin gene (FLG) that lies within a cluster of epidermal genes known as the epidermal differentiation complex (EDC) on chromosome 1q21. Recent studies in Europe have shown that null mutations in FLG lead
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Mais fontes

Livros sobre o assunto "Genetic disorders"

1

Parks, Peggy J. Genetic disorders. ReferencePoint Press, 2009.

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Parks, Peggy J. Genetic disorders. ReferencePoint Press, 2009.

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Parks, Peggy J. Genetic disorders. ReferencePoint Press, 2009.

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4

Katherine, Swarts, ed. Genetic disorders. Greenhaven Press, 2009.

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Shprintzen, Robert J. Genetics, syndromes, and communication disorders. Singular Pub. Group, 1997.

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Angelini, Corrado. Genetic Neuromuscular Disorders. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-56454-8.

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Angelini, Corrado. Genetic Neuromuscular Disorders. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford University Press, 1985.

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Umair, Muhammad, Misbahuddin Rafeeq, and Qamre Alam, eds. Rare Genetic Disorders. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-9323-9.

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Capítulos de livros sobre o assunto "Genetic disorders"

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-04414-9_16.

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Bachman, John W. "Genetic Disorders." In Family Medicine. Springer New York, 1998. http://dx.doi.org/10.1007/978-1-4757-2947-4_16.

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Bachman, John W. "Genetic Disorders." In Family Medicine. Springer New York, 2003. http://dx.doi.org/10.1007/978-0-387-21744-4_16.

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine. Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-1.

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Massart, Mylynda Beryl. "Genetic Disorders." In Family Medicine. Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4939-0779-3_16-2.

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Awaad, Yasser M. "Genetic Disorders." In Absolute Pediatric Neurology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-78801-2_3.

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Scahill, Lawrence David, Koorosh Kooros, Ramon Barinaga, et al. "Genetic Disorders." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_100640.

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Chaitanya, K. V. "Genetic Disorders." In Diagnostics and Gene Therapy for Human Genetic Disorders. CRC Press, 2022. http://dx.doi.org/10.1201/9781003343790-3.

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Laskaris, George, and Crispian Scully. "Genetic Disorders." In Periodontal Manifestations of Local and Systemic Diseases. Springer Berlin Heidelberg, 2003. http://dx.doi.org/10.1007/978-3-642-55596-1_16.

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Baum, Andrew S., and John P. Garofalo. "Genetic disorders." In Encyclopedia of Psychology, Vol. 3. American Psychological Association, 2000. http://dx.doi.org/10.1037/10518-221.

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Trabalhos de conferências sobre o assunto "Genetic disorders"

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Kamalam, G. K., N. Suganya Baby, R. Dharunya, J. Harini, and T. Kowres. "An InDepth Analysis of AI Techniques for Predicting Genetic Disorders." In 2024 15th International Conference on Computing Communication and Networking Technologies (ICCCNT). IEEE, 2024. http://dx.doi.org/10.1109/icccnt61001.2024.10724838.

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Vaibhav, Kolla, G. Kalyani, Sribhashyam Sashank Sai, and Namballa Ram Tarun. "Genomic Risk Assessment and Early Intervention for Rare Genetic Disorders." In 2024 5th International Conference on Smart Electronics and Communication (ICOSEC). IEEE, 2024. http://dx.doi.org/10.1109/icosec61587.2024.10722427.

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Nandy, Aadrita, and Parshotam. "Advancements in Machine Learning for Predictive Modeling of Genetic Disorders." In 2025 3rd International Conference on Disruptive Technologies (ICDT). IEEE, 2025. https://doi.org/10.1109/icdt63985.2025.10986508.

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Revathi, K., V. V. Karthikeyan, S. Priyanka, and S. Jaya Prakash. "Unveiling Genetic Disorders: Machine Learning and Deep Learning Approaches in Gene Expression Analysis." In 2024 Second International Conference on Intelligent Cyber Physical Systems and Internet of Things (ICoICI). IEEE, 2024. http://dx.doi.org/10.1109/icoici62503.2024.10696060.

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Eluri, Rama Krishna, Aila Manogna, Yamini Chandana, et al. "AI-Powered Early Detection of Genetic Disorders in Fetuses Using Machine Learning Models." In 2024 First International Conference for Women in Computing (InCoWoCo). IEEE, 2024. https://doi.org/10.1109/incowoco64194.2024.10863263.

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Sarathamani, T., K. Kavitha, C. Thirumoorthi, K. Jayanthi Vagini, P. Manikandaprabhu, and P. Sumathi. "Artificial Intelligence Strategies for Accurate Segmentation and Categorization of Unveiling Genetic Disorders in Bioinformatics." In 2024 2nd International Conference on Self Sustainable Artificial Intelligence Systems (ICSSAS). IEEE, 2024. https://doi.org/10.1109/icssas64001.2024.10760420.

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Lakshmi, M. L. S. N. S., Nageswara Rao Putta, Smitha Vas P, K. Veeranjaneyulu, Manoj Kumar G, and R. Sathya. "Early Risk Detection of Genetic Disorders in Newborns using Cuckoo Search and Recurrent Neural Networks." In 2025 Third International Conference on Augmented Intelligence and Sustainable Systems (ICAISS). IEEE, 2025. https://doi.org/10.1109/icaiss61471.2025.11041757.

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Lugo-Ramos, L. E., M. Collazo-Roman, D. De Sola, and W. De Jesus-Rojas. "Case Series: Pediatric Sleep-Disordered Breathing in Rare Genetic Disorders." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3481.

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Sen, Madhura, Rajkumar Rajasekaran, A. JayaRam Reddy, and Govinda K. "Predicting Genetic Disorders: A Link Mining Approach." In 2024 International Conference on Intelligent and Innovative Technologies in Computing, Electrical and Electronics (IITCEE). IEEE, 2024. http://dx.doi.org/10.1109/iitcee59897.2024.10467830.

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Rogers, Ian, and Ranjan Srivastava. "Using ensemble modeling to determine causes of multifactorial disorders." In GECCO '18: Genetic and Evolutionary Computation Conference. ACM, 2018. http://dx.doi.org/10.1145/3205651.3205686.

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Relatórios de organizações sobre o assunto "Genetic disorders"

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Andrews, Lori, B. Complex Genetic Disorders and Intellectual Property Rights Final Report. Office of Scientific and Technical Information (OSTI), 2006. http://dx.doi.org/10.2172/895052.

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Andrews, Lori. Ethical and legal issues arising from complex genetic disorders. DOE final report. Office of Scientific and Technical Information (OSTI), 2002. http://dx.doi.org/10.2172/805433.

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Saini, Ravinder, Syed Altafuddin, Sunil Vaddamanu, Vishwanath Gurumurthy, and Masroor Kanji. The Association Between Genetic Factors and Temporomandibular Disorders: A Systematic Literature Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2024. http://dx.doi.org/10.37766/inplasy2024.4.0063.

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Zhenni, Mu, Le Lei, Shen Sinan, and Tang Li. Effectiveness of integrated Chinese herbal medicine Shoutai Pill and Western medicine in the treatment of recurrent pregnancy loss: A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2021. http://dx.doi.org/10.37766/inplasy2021.10.0062.

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Review question / Objective: We provide a protocol to evaluate the efficacy of integrated Shoutai Pill and Western medicine to update the evaluation for the best available and security treatment for recurrent pregnancy loss(RPL). Condition being studied: Recurrent pregnancy loss (RPL) is a distinct disorder defined by two or more consecutive pregnancy failures before 20 gestational weeks infertile couples. The incidence of this disease accounts for about 1%-5% of women of reproductive age and seriously affects their physical and psychological health. At present, the known etiology of this dise
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Figueredo, Luisa, Liliana Martinez, and Joao Paulo Almeida. Current role of Endoscopic Endonasal Approach for Craniopharyngiomas. A 10-year Systematic review and Meta-Analysis Comparison with the Open Transcranial Approach. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.1.0045.

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Review question / Objective: To identify and review studies published in the last ten years, presenting the efficacy and outcomes of EEA and TCA for patients with cranio-pharyngiomas. Eligibility criteria: Studies meeting the following criteria were included: (a) retrospective and prospective studies and (b) observational studies (i.e., cross-sectional, case-control, case-series). The outcomes included visual outcomes (improvement, no changes, worsening), endocrinological outcomes (permanent diabetes insipidus and hypopituitarism), operatory site infection, meningitis, cerebrospinal fluid leak
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Paul, Satashree. Autism Spectrum Disorder. Science Repository, 2021. http://dx.doi.org/10.31487/sr.blog.26.

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Hirankarn, Nattiya, Tanapat Palaga, Yingyos Avihingsanon, and Pimpayao Sodsai. The characterization of the two new genes, PTGS2 and PSN2 involving in the T lymphocyte apoptosis of lupus patients: Role of genetic polymorphism and epigenetic alteration. Chulalongkorn University, 2006. https://doi.org/10.58837/chula.res.2006.28.

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Systemic lupus erthematosus (SLE) is a prototype of autoimmune disease characterized by tissue deposition of autoantibody immune complex formation. However, etiology of disease remains unclarified. Defects of T lymphocytes lead to loss of immunological tolerance and support autoantibody production suggested that they may consistently have a central role in pathogenesis of SLE. Notch signaling is an evolutionarily conserved pathway responsible for thymocyte development, activation, proliferation, differentiation and T cell functions. Several evidences suggest Notch signaling involvement in auto
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Bhaskar Kalarani, Iyshwarya, and Ramakrishnan Veerabathiran. Study of genetic polymorphisms in autism spectrum disorder. Peeref, 2022. http://dx.doi.org/10.54985/peeref.2210p6305148.

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Wang, Xinrun, Tianye Li, Xuechai Bai, Yun Zhu, and Meiliang Zhang. Therapeutic prospect on umbilical cord mesenchymal stem cells in animal model with primary ovarian insufficiency: A meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.5.0075.

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Review question / Objective: Participants: experiment POI animal models; Interventions: human umbilical cord mesenchymal stem cells; Comparisons: POI animal models without hUCMSC therapy; Outcomes: estrous cycle situation, serum sex hormone level and ovarian follicle count; Studies: randomized controlled animal study; The aim of the review is to figure out whether hUCMSC can recover ovarian function in POI animal models. Condition being studied: Primary ovarian insufficiency (POI) is a syndrome characterized by reduced or absent ovarian function (hypogonadism) and elevated levels of gonadotrop
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Zhian, Samaneh. Molecular Genetic Analysis of CRELD1 in Patients with Heterotaxy Disorder. Portland State University Library, 2000. http://dx.doi.org/10.15760/etd.410.

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