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Articoli di riviste sul tema "Genetic disorders"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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1

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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2

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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Abstract (sommario):

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Donnai, Dian. "Genetic biochemical disorders." Early Human Development 14, no. 2 (1986): 164–65. http://dx.doi.org/10.1016/0378-3782(86)90161-1.

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12

BURGDORF, WALTER. "Genetic Skin Disorders." Pediatric Dermatology 28, no. 6 (2011): 748. http://dx.doi.org/10.1111/j.1525-1470.2011.01599.x.

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13

Axelrod, Felicia B. "Genetic Autonomic Disorders." Seminars in Pediatric Neurology 20, no. 1 (2013): 3–11. http://dx.doi.org/10.1016/j.spen.2012.12.002.

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14

Paller, Amy S. "Genetic immunodeficiency disorders." Clinics in Dermatology 23, no. 1 (2005): 68–77. http://dx.doi.org/10.1016/j.clindermatol.2004.09.011.

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15

Jay, B. "Genetic Biochemical Disorders." British Journal of Ophthalmology 71, no. 4 (1987): 324. http://dx.doi.org/10.1136/bjo.71.4.324-a.

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16

Brenton, D. P. "Genetic Biochemical Disorders." Postgraduate Medical Journal 62, no. 732 (1986): 973. http://dx.doi.org/10.1136/pgmj.62.732.973-a.

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17

Emery, Alan. "Genetic biochemical disorders." Trends in Biochemical Sciences 11, no. 4 (1986): 189. http://dx.doi.org/10.1016/0968-0004(86)90140-4.

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18

Cohen, R. D. "Genetic Biochemical Disorders." Journal of the Royal College of Physicians of London 20, no. 3 (1986): 218. https://doi.org/10.1016/s0035-8819(25)02448-1.

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19

Souery, D., I. Massat, and J. Mendlewicz. "Genetics of bipolar disorders." Acta Neuropsychiatrica 12, no. 3 (2000): 65–68. http://dx.doi.org/10.1017/s0924270800035420.

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Abstract (sommario):

ABSTRACTAdvances towards the understanding of the etiological mechanisms involved in mood disorders provide interesting yet diverse hypotheses and promising models. In this context, molecular genetics has now been widely incorporated into genetic epidemiological research in psychiatry. Affective disorders and, in particular, bipolar affective disorder (BPAD) have been examined in many molecular genetic studies which have covered a large part of the genome, specific hypotheses such as mutations have also been studied. Most recent studies indicate that several chromosomal regions may be involved

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20

Kingston, H. M. "ABC of clinical genetics. Treatment of genetic disorders." BMJ 298, no. 6686 (1989): 1499–501. http://dx.doi.org/10.1136/bmj.298.6686.1499.

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21

Fauser, B. C. J. M., and A. J. W. Hsueh. "Genetics: Genetic basis of human reproductive endocrine disorders." Human Reproduction 10, no. 4 (1995): 826–46. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136047.

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22

Joseph, Ozigis Akomodi. "The Role of Genetics in Neurodevelopmental Disorders: A Focus on Autism Spectrum Disorders (ASD)." International Journal of Recent Innovations in Academic Research 9, no. 2 (2025): 375–84. https://doi.org/10.5281/zenodo.15602974.

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The increasing prevalence of autism spectrum disorder (ASD) has intensified the focus on understanding its complex etiology, particularly the role of genetic factors. This paper provides an in-depth analysis of the genetic underpinnings of ASD, emphasizing the contributions of specific genes, mutations, and their interactions with environmental influences. Genetic studies have revealed that ASD is highly heritable, with estimates indicating that genetic factors account for up to 80% of the risk for developing the disorder. Variants in genes associated with synaptic development, neuronal connec

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23

De Rycke, Martine, and Veerle Berckmoes. "Preimplantation Genetic Testing for Monogenic Disorders." Genes 11, no. 8 (2020): 871. http://dx.doi.org/10.3390/genes11080871.

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Abstract (sommario):

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents

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24

Pinheiro, Andréa Poyastro, Patrick F. Sullivan, Josue Bacaltchuck, Pedro Antonio Schmidt do Prado-Lima, and Cynthia M. Bulik. "Genetics in eating disorders: extending the boundaries of research." Revista Brasileira de Psiquiatria 28, no. 3 (2006): 218–25. http://dx.doi.org/10.1590/s1516-44462006005000004.

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Abstract (sommario):

OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa

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25

Zhestkova, M. A., and D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS." Pediatria. Journal named after G.N. Speransky 100, no. 5 (2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.

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The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.

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26

Mynett-Johnson, Lesley A., and Patrick McKeon. "The molecular genetics of affective disorders: An overview." Irish Journal of Psychological Medicine 13, no. 4 (1996): 155–61. http://dx.doi.org/10.1017/s0790966700004444.

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AbstractObjective: Genetic mapping, the method of comparing an inheritance pattern of a disease to that of a chromosomal region, has brought about a revolution in the field of human inherited diseases. Diseases which exhibit a more complex pattern of inheritance now afford the next challange in the application of genetic mapping to the field of human disease. This article aims to review the application of genetic mapping to affective disorders.Method: Review of literature concerning the molecular genetics of affective disorders.Findings: This article describes the evidence for a genetic role i

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27

Abd Ali, Esra Hassan, and Hussain Owaid Mohammed. "Autoimmune Disorders Unraveled: The Interplay Between Genetics and the Immune System." International Journal of Medical Science and Dental Health 10, no. 03 (2024): 01–14. http://dx.doi.org/10.55640/ijmsdh-10-03-18.

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Abstract (sommario):

Autoimmune diseases are a group of disorders that have an abnormal immune response against the owner’s tissues. Another key feature in the pathogenesis of these diseases is an interaction between genetics and environment. Although the emergence of a number of recent genomic technologies has simplified establishing many susceptibility genes and loci that determine an inherited predisposition to autoimmunity, The goal of this review article is to explore the element of complexity that stems from correlation between genetics and immunity when focusing autoimmune diseases. It provides major geneti

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28

Jamkhedkar, Suruchi. "Developmental disorders-genetic view." Acta Medica International 3, no. 2 (2016): 24. http://dx.doi.org/10.5530/ami.2016.2.6.

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29

Simon, Chantal, and Peter Farndon. "What Causes Genetic Disorders?" InnovAiT: Education and inspiration for general practice 1, no. 8 (2008): 544–53. http://dx.doi.org/10.1093/innovait/inn087.

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30

Mazzocco, Mich??le M. M., and Allan L. Reiss. "Genetic disorders and advances." Current Opinion in Psychiatry 7, no. 5 (1994): 392–96. http://dx.doi.org/10.1097/00001504-199409000-00006.

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31

Tsipouras, P., and F. Ramirez. "Genetic disorders of collagen." Journal of Medical Genetics 24, no. 1 (1987): 2–8. http://dx.doi.org/10.1136/jmg.24.1.2.

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32

Silverman, Jerald, and Michael W. Fox. "Research on genetic disorders." Journal of the American Veterinary Medical Association 189, no. 4 (1986): 408. https://doi.org/10.2460/javma.1986.189.04.408.

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33

Fox, Michael W. "Research on genetic disorders." Journal of the American Veterinary Medical Association 188, no. 10 (1986): 1141. https://doi.org/10.2460/javma.1986.188.10.1141.

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34

Haber, Paul S. "Genetic disorders in pancreatitis." Journal of Gastroenterology and Hepatology 19, no. 8 (2004): 939. http://dx.doi.org/10.1111/j.1440-1746.2004.03571.x.

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35

ROVNER, SOPHIE. "DRUG FOR GENETIC DISORDERS." Chemical & Engineering News 85, no. 18 (2007): 10. http://dx.doi.org/10.1021/cen-v085n018.p010a.

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36

Corradini, Elena, Elena Buzzetti, and Antonello Pietrangelo. "Genetic iron overload disorders." Molecular Aspects of Medicine 75 (October 2020): 100896. http://dx.doi.org/10.1016/j.mam.2020.100896.

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37

Sampson, J. "Genetic disorders in dogs." Proceedings of the British Society of Animal Science 2003 (2003): 216. http://dx.doi.org/10.1017/s1752756200013740.

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Abstract (sommario):

There has been a shift over the last few years in the profile of diseases that veterinarians encounter in the dog. Improvements and developments in antibiotics, antihelminthics and more effective vaccines have controlled many of the infectious diseases that have caused problems in the past. As a result, there has been a relative increase in diseases that have a genetic basis.

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38

Philip, Nicole. "Screening for genetic disorders." Child's Nervous System 19, no. 7-8 (2003): 436–39. http://dx.doi.org/10.1007/s00381-003-0779-0.

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39

Domschke, K. "Anxiety disorders: genetic mechanisms." e-Neuroforum 4, no. 3 (2013): 71–78. http://dx.doi.org/10.1007/s13295-013-0044-2.

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40

Williams, Janet K. "Screening for genetic disorders." Journal of Pediatric Health Care 3, no. 3 (1989): 115–21. http://dx.doi.org/10.1016/0891-5245(89)90060-6.

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41

Brugh, Victor M., Maria Rosa Maduro, and Dolores J. Lamb. "Genetic disorders and infertility." Urologic Clinics of North America 30, no. 1 (2003): 143–52. http://dx.doi.org/10.1016/s0094-0143(02)00112-x.

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42

Danpure, Christopher J. "GENETIC DISORDERS AND UROLITHIASIS." Urologic Clinics of North America 27, no. 2 (2000): 287–99. http://dx.doi.org/10.1016/s0094-0143(05)70258-5.

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43

Passeron, Thierry, Frédéric Mantoux, and Jean-Paul Ortonne. "Genetic disorders of pigmentation." Clinics in Dermatology 23, no. 1 (2005): 56–67. http://dx.doi.org/10.1016/j.clindermatol.2004.09.013.

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44

Reiss, A. L., C. Feinstein, and K. N. Rosenbaum. "Autism and Genetic Disorders." Schizophrenia Bulletin 12, no. 4 (1986): 724–38. http://dx.doi.org/10.1093/schbul/12.4.724.

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45

Hirschhorn, Rochelle. "Therapy of Genetic Disorders." New England Journal of Medicine 316, no. 10 (1987): 623–24. http://dx.doi.org/10.1056/nejm198703053161011.

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46

McLachlan, R. I., C. Mallidis, K. Ma, S. Bhasin, and D. M. de Kretser. "Genetic disorders and spermatogenesis." Reproduction, Fertility and Development 10, no. 1 (1998): 97. http://dx.doi.org/10.1071/r98029.

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Abstract (sommario):

Male infertility affects one man in twenty and a genetic basis seems likely in at least 30% of those men. Genetic regulation of fertility involves the inter-related processes of testicular development, spermatogenesis (involving germ cell mitosis, meiosis and spermatid maturation), and their endocrine and paracrine regulation. In regard to spermatogenesis, particular attention has been given to the Yq11 region, where some spermatogenesis genes (‘azoospermia factors’) appear to be located. Several candidate genes have been identified but have not been shown to have a defined or essential role i

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47

Charrow, Joel. "Ashkenazi Jewish genetic disorders." Familial Cancer 3, no. 3-4 (2004): 201–6. http://dx.doi.org/10.1007/s10689-004-9545-z.

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48

Paller, Amy S. "Genetic Disorders of Skin." Archives of Dermatology 139, no. 1 (2003): 74. http://dx.doi.org/10.1001/archderm.139.1.74.

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49

Emery, Alan E. H. "Genetic disorders in portraits." American Journal of Medical Genetics 66, no. 3 (1996): 334–39. http://dx.doi.org/10.1002/(sici)1096-8628(19961218)66:3<334::aid-ajmg17>3.0.co;2-n.

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50

Souery, D., and J. Mendlewicz. "Molecular genetic findings in mood disorders." Acta Neuropsychiatrica 11, no. 2 (1999): 67–70. http://dx.doi.org/10.1017/s092427080003619x.

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Abstract (sommario):

Traditional methods used to asses genetic effects, such as twins, adoption and family studies, have demonstrated the role genetic vulnerability factors in the etiology of major psychiatric diseases such as affective disorders and schizophrenia. It remains however impossible, using these methods, to specify the genetic variables involved and the exact mode of transmission of these diseases. New genetic approaches in psychiatry include the use of DNA markers in sophisticated strategies to examine families and populations. Genetic linkage (in families) and allelic association (in unrelated subjec

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