Relevant bibliographies by topics / Genetic Diseases, Inborn – genetics

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

Academic literature on the topic 'Genetic Diseases, Inborn – genetics'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Genetic Diseases, Inborn – genetics"

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Löwy, Ilana. "How diseases became “genetic”." Ciência & Saúde Coletiva 24, no. 10 (2019): 3607–17. http://dx.doi.org/10.1590/1413-812320182410.19102019.

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Abstract This article examines the origins of the term “genetic disease.” In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar “predisposition” was replaced by the view that such diseases have specific causes, while Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticis
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Schwartz, Morton K. "Genetic Testing and the Clinical Laboratory Improvement Amendments of 1988: Present and Future." Clinical Chemistry 45, no. 5 (1999): 739–45. http://dx.doi.org/10.1093/clinchem/45.5.739.

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Abstract CLIA ‘88 superseded CLIA ‘67. CLIA ‘88 set standards designed to improve quality and expanded federal oversight to virtually all clinical laboratories in the United States. Presumably because genetics testing was then in its infancy, CLIA ‘88 did not devote a special section to genetics testing. Biochemical and immunochemical tests used to evaluate inborn errors of metabolism and other genetic entities were categorized as analytes in the Clinical Chemistry section, and DNA probes used primarily in infectious disease were included in Microbiology. The legal, social, economic, and ethic
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Casanova, Jean-Laurent. "Severe infectious diseases of childhood as monogenic inborn errors of immunity." Proceedings of the National Academy of Sciences 112, no. 51 (2015): E7128—E7137. http://dx.doi.org/10.1073/pnas.1521651112.

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This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy c
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Howell, R. Rodney. "From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics." Annual Review of Genomics and Human Genetics 19, no. 1 (2018): 1–14. http://dx.doi.org/10.1146/annurev-genom-083117-021611.

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Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-ge
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Nelanuthala, Madhurasree, Brahmapreet Kaur, Vinod Ingale, Suvarna Magar, and Pradnya Joshi. "Having a common ancestor; significance of consanguinity and genetic diseases." International Journal of Contemporary Pediatrics 8, no. 1 (2020): 26. http://dx.doi.org/10.18203/2349-3291.ijcp20205453.

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Background: Consanguinity is prevalent in India, which is one of the high-risk factors for increased risk of single gene diseases. Global developmental delay is heterogeneous group of genetic diseases which includes chromosomal and single gene diseases. The aim of the study is to determine impact of consanguinity on these 2 groups of diseases.Methods: A retrospective review of children coming to genetic OPD with global developmental delay (GDD) and children who were proven inborn errors of metabolism (IEM) was done. Presence of consanguinity or its absence was noted in all the children in both
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Omelchenko, E. M., O. O. Polka, and L. A. Karamzina. "Neonatal Screening for Monogenic Inborn Pathology in Ukraine." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, no. 6 (2020): 292–98. http://dx.doi.org/10.26693/jmbs05.06.292.

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The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic
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Tatour, Yasmin, and Tamar Ben-Yosef. "Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects." Diagnostics 10, no. 10 (2020): 779. http://dx.doi.org/10.3390/diagnostics10100779.

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Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous syste
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Casanova, Jean-Laurent. "Human genetic basis of interindividual variability in the course of infection." Proceedings of the National Academy of Sciences 112, no. 51 (2015): E7118—E7127. http://dx.doi.org/10.1073/pnas.1521644112.

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The key problem in human infectious diseases was posed at the turn of the 20th century: their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life-threatening clinical disease develops in only a small minority of infected individuals. Solving this infection enigma is important clinically, for diagnosis, prognosis, prevention, and treatment. Some microbes will inevitably remain refractory to, or escape vaccination, or chemotherapy, or both. The solution also is important biologically, because the emergence and evolution of eukaryotes alongside more rapidly evolving pro
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Sogkas, Georgios, Faranaz Atschekzei, Ignatius Ryan Adriawan, Natalia Dubrowinskaja, Torsten Witte, and Reinhold Ernst Schmidt. "Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity." Cellular & Molecular Immunology 18, no. 5 (2021): 1122–40. http://dx.doi.org/10.1038/s41423-020-00626-z.

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AbstractIn addition to susceptibility to infections, conventional primary immunodeficiency disorders (PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as lymphoproliferative and/or autoimmune disease. Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases, such as arthritis, systemic lupus erythematosus (SLE), and Sjogren’s syndrome (SjS). Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore
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Leistner, Sandra, and Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses." Genetics and Molecular Biology 21, no. 1 (1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.

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Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a re
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Dissertations / Theses on the topic "Genetic Diseases, Inborn – genetics"

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Dubé, Nicholas Larsen Andrew. "Enhanced genetic screening plan for the B.C. molecular genetics laboratory : a five year business plan /." Burnaby B.C. : Simon Fraser University, 2007. http://ir.lib.sfu.ca/handle/1892/9369.

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Research Project (M.B.A.) - Simon Fraser University, 2007.<br>Theses (Faculty of Business Administration) / Simon Fraser University. Senior supervisor: Dr. Aidan Vining -- Faculty of Business Administration. MBA-MOT Program. Also issued in digital format and available on the World Wide Web.
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Einarsdóttir, Elísabet. "Mapping genetic diseases in northern Sweden." Umeå : Department of Medical Biosciences, Umeå University, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-499.

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Hill, John Stuart. "Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia." Thesis, University of British Columbia, 1990. http://hdl.handle.net/2429/28810.

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder in which the primary defect is a mutation in the LDL receptor. Heterozygous FH is among the most common inborn errors of metabolism and remains as the best example of an inherited defect causing premature coronary artery disease (CAD). This thesis describes the physical and biochemical characteristics of heterozygous FH in a large cohort consisting of 208 women and 156 men. The influence of both genetic and environmental factors on the clinical expression of FH were investigated to better understand the phenotypic variation
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Callander, Margarita. "Epidemiological and genetic studies of multiple sclerosis with focus on the Swedish county of Värmland /." Linköping : Linköpings universitet, 2006. http://www.bibl.liu.se/liupubl/disp/disp2006/med949s.pdf.

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Sundblom, Jimmy. "Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases." Doctoral thesis, Uppsala universitet, Neurologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-162048.

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There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. This thesis describes clinical and genetic studies of two single-gene diseases: 1) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms (ADLD) caused by LMNB1 gene duplications, and characterized by autonomic, pyramidal and cerebellar symptoms. Spinal cords of patients with ADLD were studied by MRI and found to be thin, with high signal intensity in white matter. Histopathology showed loss of myelinated f
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Graham, Jinko. "Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/9568.

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Baratela, Wagner Antonio da Rosa. "Estudo genético-clínico das displasias esqueléticas, com enfoque nas osteocondrodisplasias com acometimento do esqueleto axial, associado ao envolvimento epifisário e/ou metafisário." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-02072018-120400/.

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INTRODUÇÃO: As osteocondrodisplasias constituem um grupo heterogêneo de doenças que comprometem a formação, crescimento e desenvolvimento do sistema esquelético. O diagnóstico definitivo, principalmente nas formas com acometimento de coluna, epífise e/ou metáfise, é desafiador, devido à heterogeneidade genética, raridade de algumas formas específicas e da sobreposição de fenótipos clínico-radiológicos. OBJETIVOS: avaliar as características clínico-radiológicas e as bases moleculares de um grupo de pacientes com osteocondrodisplasias com envolvimento do esqueleto axial associado a anomalias epi
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Assumpção, Tatiana Malheiros. "Avaliação do perfil psiquiátrico de pacientes com mucopolissacaridoses." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/47/47133/tde-24022014-094625/.

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As mucopolissacaridoses (MPS) são um grupo de doenças metabólicas hereditárias causadas pela deficiência de enzimas lisossomais específicas, que causam alterações físicas e/ou comportamentais crônicas e progressivas. Um fenótipo comportamental é um padrão característico de observações motoras, cognitivas, linguísticas e sociais consistentemente associado a uma condição biológica. Tal fenótipo pode ser um transtorno mental ou outras características de comportamento não necessariamente associadas a transtornos. No caso específico das mucopolissacaridoses, embora haja diversos relatos na literatu
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Yamamoto, Guilherme Lopes. "Aplicabilidade clínica da técnica de sequenciamento de nova geração com enfoque em displasias esqueléticas." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-18122017-091713/.

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INTRODUÇÃO: Na última década surgiu uma nova técnica, o sequenciamento de nova geração, que, contrário ao método tradicional de Sanger, permite o sequenciamento em paralelo e em larga escala de múltiplos genes, ou até mesmo todos os genes humanos, a menor custo e com uma análise mais acelerada. Essa técnica possibilitou a descoberta de novos genes responsáveis por diversas doenças mendelianas, sendo rapidamente incorporada no contexto clínico. OBJETIVOS: comparar os resultados das técnicas de Sanger e sequenciamento de nova geração em amostras controle; introduzir a técnica de sequenciamento d
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Simoni, Renata Zaccaria 1972. "Trombofilia hereditária em fetos com malformações de origem vascular = Genetic polymorphisms in fetuses with malformations of vascular origin." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309004.

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Orientador: Egle Cristina Couto de Carvalho<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-21T14:08:16Z (GMT). No. of bitstreams: 1 Simoni_RenataZaccaria_D.pdf: 2332845 bytes, checksum: fc29ed8709fbdf31408d1968e76a01a0 (MD5) Previous issue date: 2012<br>Resumo: Contexto e objetivo: Algumas malformações congênitas têm origem vascular, e a trombose durante a organogênese já foi aventada como possível mecanismo para esta ocorrência. O objetivo deste estudo foi avaliar a associação entre trombofilia fetal e malformaçõ
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Books on the topic "Genetic Diseases, Inborn – genetics"

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Medical genetics. 2nd ed. Mosby, 2000.

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

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

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

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Gormley, Myra Vanderpool. Family diseases: Are you at risk? Genealogical Pub. Co., 1989.

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

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Seashore, Margretta Reed. Genetics in primary care & clinical medicine. Appleton & Lange, 1996.

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Dudek, Ronald W. Genetics. Lippincott Williams & Wilkins, 2009.

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Dudek, Ronald W. Genetics. Lippincott Williams & Wilkins, 2010.

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Casanova, Jean-Laurent, Mary Ellen Conley, and Luigi Notarangelo. The year in human and medical genetics: Inborn errors of immunity I. Edited by New York Academy of Sciences. Published by Blackwell Pub. on behalf of the New York Academy of Sciences, 2011.

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Book chapters on the topic "Genetic Diseases, Inborn – genetics"

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Lombeck, I. "Genetic Defects Related to Metals Other Than Copper." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03147-6_29.

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Jochum, F., and I. Lombeck. "Genetic Defects Related to Metals Other Than Copper." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/978-3-662-04285-4_34.

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Lombeck, I. "Genetic Defects of the Metabolism of Magnesium, Zinc, Manganese, Molybdenum, and Selenium." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_37.

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Zschocke, Johannes, and Sigrid Tinschert. "Genetic Counseling for Inborn Errors of Metabolism." In Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-40337-8_47.

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Yu, Chunli, Melissa P. Wasserstein, and George A. Diaz. "Biochemical Genetics and Inborn Errors of Metabolism." In Molecular Genetic Pathology. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4614-4800-6_21.

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Vogel, Friedrich, and Arno G. Motulsky. "Gene Action: Genetic Diseases." In Human Genetics. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-03356-2_8.

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Houser, Christine M. "Genetic Concepts and Terminology." In Pediatric Genetics and Inborn Errors of Metabolism. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2_1.

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Blankenhorn, E. P., R. Duncan, C. Teuscher, and M. Potter. "Genetic Map Location of Afr-1: Results From Four Genetic Crosses." In Genetics of Immunological Diseases. Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/978-3-642-50059-6_40.

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Lo, W. Hwei-Yuen. "Genetic Diseases in China — Some Epidemiological Features." In Human Genetics. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71635-5_75.

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Grandchamp, B., Y. Nordmann, P. H. Romeo, and M. Goossens. "Genetic Analysis of Acute Intermittent Porphyria." In Genetics of Neuropsychiatric Diseases. Macmillan Education UK, 1989. http://dx.doi.org/10.1007/978-1-349-10729-2_12.

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Conference papers on the topic "Genetic Diseases, Inborn – genetics"

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"Genetic resources in creating sustainable diseases of introgressive spring wheat forms." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-002.

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Hasanova, Aytakin, and Simuzar Hajizada. "WORKING CONDITIONS AND HEALTH OF SEAFARERS." In The First International Scientific Practical Online Conference-Human Genetics and Genetic Diseases: Problems and Development Perspectives. IRETC, 2020. http://dx.doi.org/10.36962/hggd0164.

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Abedian, Shifteh, Sunny H. Wong, Suzanne Van Sommeren, et al. "IDDF2019-ABS-0253 Explained variance and predictability of inflammatory bowel diseases by genetic risk score in five asian populations (results from the international IBD genetics consortium)." In International Digestive Disease Forum (IDDF) 2019, Hong Kong, 8–9 June 2019. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2019. http://dx.doi.org/10.1136/gutjnl-2019-iddfabstracts.211.

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