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Littérature scientifique sur le sujet « Medical genetics »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 30 juillet 2024

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Articles de revues sur le sujet "Medical genetics"

Stoll, Claude. « Clinical genetics : Medical genetics ». European Journal of Human Genetics 14, n^o 5 (25 avril 2006) : 587. http://dx.doi.org/10.1038/sj.ejhg.5201601.

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Babovic-Vuksanovic, Dusica. « Medical Genetics ». Mayo Clinic Proceedings 74, n^o 10 (octobre 1999) : 1055–56. http://dx.doi.org/10.4065/74.10.1055-b.

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Fletcher, John C., et Dorothy C. Wertz. « Medical Genetics ». Hastings Center Report 18, n^o 6 (décembre 1988) : 48. http://dx.doi.org/10.2307/3563051.

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Pinel, T. « Medical Genetics ». British Journal of Biomedical Science 68, n^o 1 (janvier 2011) : 51. http://dx.doi.org/10.1080/09674845.2011.11978204.

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Blackburn, Susan. « Medical Genetics ». Journal of Perinatal & ; Neonatal Nursing 18, n^o 1 (janvier 2004) : 74–75. http://dx.doi.org/10.1097/00005237-200401000-00012.

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Reardon, W. « Medical genetics ». Journal of Medical Genetics 42, n^o 11 (15 juin 2005) : 880. http://dx.doi.org/10.1136/jmg.2005.034645.

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Babovic-Vuksanovic, Dusica. « Medical Genetics ». Mayo Clinic Proceedings 74, n^o 10 (octobre 1999) : 1055–56. http://dx.doi.org/10.1016/s0025-6196(11)64018-4.

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Super, M. « Medical genetics. » Postgraduate Medical Journal 67, n^o 789 (1 juillet 1991) : 613–31. http://dx.doi.org/10.1136/pgmj.67.789.613.

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Harris, R. « Medical genetics. » BMJ 303, n^o 6808 (19 octobre 1991) : 977–79. http://dx.doi.org/10.1136/bmj.303.6808.977.

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McKusick, Victor A. « Medical Genetics ». JAMA 270, n^o 19 (17 novembre 1993) : 2351. http://dx.doi.org/10.1001/jama.1993.03510190107035.

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Thèses sur le sujet "Medical genetics"

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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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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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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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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Livres sur le sujet "Medical genetics"

Jorde, Lynn B. Medical genetics. 4^e éd. Philadelphia : Mosby/Elsevier, 2010.

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

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

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B, Jorde Lynn, dir. Medical genetics. 3^e éd. St. Louis, Mo : Mosby, 2006.

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B, Jorde Lynn, dir. Medical genetics. 2^e éd. St. Louis : Mosby, 1999.

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D, Young Ian, et Emery Alan E. H, dir. Emery's elements of medical genetics. New York : Churchill Livingstone, 1998.

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D, Young Ian, et Emery Alan E. H, dir. Emery's elements of medical genetics. Edinburgh : Churchill Livingstone, 2000.

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

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1946-, Carey John C., et Bamshad Michael J, dir. Medical genetics. 4^e éd. Philadelphia : Mosby/Elsevier, 2010.

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B, Jorde Lynn, dir. Medical genetics. 3^e éd. St. Louis, Mo : Mosby, 2003.

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Chapitres de livres sur le sujet "Medical genetics"

Tobin, Sara L. « Medical Genetics ». Dans 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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Hogan, Andrew J. « Medical Genetics ». Dans 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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Hall, Nancy K., et Daniel L. Feeback. « Medical Genetics ». Dans 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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Bailey, Ernest, et Samantha A. Brooks. « Medical genetics. » Dans Horse genetics, 153–67. Wallingford : CABI, 2020. http://dx.doi.org/10.1079/9781786392589.0153.

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Rieder, Harald. « Medical Genetics ». Dans 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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Gardner, Aaron, Sarah Stauffer, Lindsay Petley-Ragan, Philip Wismer et Dewi Ayu Kencana Ungu. « Medical Genetics ». Dans 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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Edelmann, Lisa, Stuart Scott et Ruth Kornreich. « Molecular Medical Genetics ». Dans 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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Edelmann, Lisa, Stuart Scott, Liu Liu et Ruth Kornreich. « Molecular Medical Genetics ». Dans 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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Scarpa, Aldo, Paola Capelli et Ivana Cataldo. « Pathology and Genetics ». Dans 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 ». Dans 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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Actes de conférences sur le sujet "Medical genetics"

CZEIZEL, ANDREW E. « QUO VADIS MEDICAL GENETICS ? » Dans 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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« Pre-testing of Genetic Literacy Questionnaire Reveals Genetics Misconceptions Among Medical Students of Universitas Riau ». Dans 4th Riau Medical Scientific and Expo 2022. Galaxy Science, 2022. http://dx.doi.org/10.11594/nstp.2022.2810.

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Gomes, Victor Hugo de Souza Silva, Klesia Adaynny Rodrigues, Isadora Soares Constantini de Andrade, Beatriz Fulador, Bianca Barbosa Araldi, Bruno Ludvig Vieira Schaeffler et Heloise Helena Siqueira. « Use of free genetic screening methods in neurology outpatients in cuiaba : advantages and interpretation difficulties ». Dans XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.368.

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Introduction: Medical genetics is increasingly gaining in modern medicine, through panels that enable the screening and diagnosis of rare diseases, becoming an effective ally in determination of some pathologies. In 2021, Invitae provided of medical outpatient clinics with kits for collecting genetic material in order to assist the specialist in diagnosing unusual and difficult-to-recognize conditions. In Cuiabá, the residency in Neurology was chosen to host the use of these methods. Objectives and methods: List the genetic tests collected through oral swabs and quantify the diagnoses made, in addition to the difficulty in determining them due to the technical language used. Results: In 12 months, 61 samples were collected, however, only 50 were analyzed. 11 tests were excluded. The analysis identified 30 male, representing 60% of panels, the average age of total sample was 33.64 years (SD). Received results from 20 samples with negative results in search for pathogenic alleles, while 22 showed only uncertain variants, not being conclusive for any diagnosis, just implying reproductive risk. Total of exams analyzed, 8 samples (16%) were positive for pathogenic variants, confirming the diagnosis of rare diseases and enabling appropriate therapeutic measures, initiation of supportive therapies and familiar guidance. Through this method, two patients were diagnosed with Spinal Muscular Atrophy type III, 1 with Wilson’s disease and two others with Niemann-Pick disease type C. Conclusion: Project ended in mid-2022, with the completion of free access to diagnoses. We emphasize that in many cases, access to genetic panel was extremely relevant, helped in the diagnostic direction, making it possible to start therapies for some patients with potentially treatable diseases. However, we encountered some difficulties, mainly in the interpretation of results provided by laboratory, due to extremely technical language and the large amount of information grouped in text. Conclud that medical genetics is extremely important in assisting medicals in diagnosis of rare diseases. However, there is a need for greater access to geneticists as well as genetic tests available in Brazilian Unified Health System.

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« Seeking an optimal approach to variant calling in medical genetics ». Dans Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-215.

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Robson, J. F., S. J. Denholm et M. Coffey. « 123. Automated processing and phenotype extraction of ovine medical images using deep learning and computer vision ». Dans World Congress on Genetics Applied to Livestock Production. The Netherlands : Wageningen Academic Publishers, 2022. http://dx.doi.org/10.3920/978-90-8686-940-4_123.

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Arutyunov, Armenak Valerievich, Vladimir Viktorovich Volobuev, Elena Alexandrovna Badeeva, Tatyana Ivanovna Murashkina et 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 ». Dans 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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« Adventures with large biomedical datasets : Diseases, medical records, environment and genetics ». Dans 2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2017. http://dx.doi.org/10.1109/bibm.2017.8217610.

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Taleb, Aiham, Matthias Kirchler, Remo Monti et Christoph Lippert. « ContIG : Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics ». Dans 2022 IEEE/CVF Conference on Computer Vision and Pattern Recognition (CVPR). IEEE, 2022. http://dx.doi.org/10.1109/cvpr52688.2022.02024.

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Yang, Qiushi, Wuyang Li, Baopu Li et Yixuan Yuan. « MRM : Masked Relation Modeling for Medical Image Pre-Training with Genetics ». Dans 2023 IEEE/CVF International Conference on Computer Vision (ICCV). IEEE, 2023. http://dx.doi.org/10.1109/iccv51070.2023.01961.

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Calderon Torres, Claudia Marissa. « WEBSITE FOR ONLINE OR BLENDED TEACHING OF GENETICS FOR THE DEVELOPMENT OF KNOWLEDGE AND SKILLS IN BIOLOGY STUDENTS ». Dans EduCon Tokyo –International Conference on Education, 17-18 January 2024. Global Research & Development Services, 2024. http://dx.doi.org/10.20319/ictel.2024.3537.

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Genetics is the science that studies the transmission and variation of the hereditary information of organisms stored in DNA. Currently, Genetics encompasses a strategic set of knowledge and skills that biology professionals must have, in such a way that those who do not have this knowledge, techniques and even theories, run the risk of not entering a job position. Objective. This work presents a web page developed to facilitate the learning of Genetics knowledge. This project brings together participants who have carried out scientific and professional work, have taught genetics courses and know the problems of teaching and learning genetics. Results. The developed website (www.genetica.abaco2.org) incorporates: 1) Educational texts for the development of knowledge, skills and competencies on specific topics; 2) Multiple choice questionnaires for self-assessment; 3) Hardy-Weinberg simulator; and 4) Evaluation of the understanding of educational texts through the application of quick questionnaires. The texts are focused on undergraduate students of careers in the biological-medical area. The effect on learning of the contents of the website with the topic of genetic recombination was evaluated by comparing the learning in two groups of students: group A (133 students) with prior reading of the educational text and group B (119 students) without reading of the educational text. Through statistical analysis with the Z test it was found that group A had higher percentage (75.6% vs. 55.8%; P<0.01) of correct answers when answering a test of 10 questions. Conclusions: The designed website is a resource that teachers and students can benefit from by facilitating the teaching-learning process of Genetics.

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Rapports d'organisations sur le sujet "Medical genetics"

Clemens, Jeffrey, et Stan Veuger. Risks to the Returns to Medical Innovation : The Case of Myriad Genetics. Cambridge, MA : National Bureau of Economic Research, août 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, janvier 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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de Miguel Beriain, Iñigo, Aliuska Duardo Sánchez et José Antonio Castillo Parrilla. What Can We Do with the Data of Deceased People ? A Normative Proposal. Universitätsbibliothek J. C. Senckenberg, Frankfurt am Main, 2021. http://dx.doi.org/10.21248/gups.64580.

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The health and genetic data of deceased people are a particularly important asset in the field of biomedical research. However, in practice, using them is compli- cated, as the legal framework that should regulate their use has not been fully developed yet. The General Data Protection Regulation (GDPR) is not applicable to such data and the Member States have not been able to agree on an alternative regulation. Recently, normative models have been proposed in an attempt to face this issue. The most well- known of these is posthumous medical data donation (PMDD). This proposal supports an opt-in donation system of health data for research purposes. In this article, we argue that PMDD is not a useful model for addressing the issue at hand, as it does not consider that some of these data (the genetic data) may be the personal data of the living relatives of the deceased. Furthermore, we find the reasons supporting an opt-in model less convincing than those that vouch for alternative systems. Indeed, we propose a normative framework that is based on the opt-out system for non-personal data combined with the application of the GDPR to the relatives’ personal data.

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Best, Stephanie, Clara Gaff, Natalie Taylor et Helen Brown. Frameworks to support the implementation of genomics into clinical care. The Sax Institute, novembre 2019. http://dx.doi.org/10.57022/daqw3432.

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Establishing genomics within clinical practice poses many challenges. NSW Ministry of Health commissioned this review to identify frameworks that have been used to support the translation of genomic research into clinical practice. Although the literature on the use and evaluation of frameworks that have actively translated genomics from laboratory to clinical settings is limited the authors were able to draw out key themes and recommendations for NSW and possible future directions, including: a crucial need for formal evaluation of the implementation of genomic medicine in real-world settings, the need for collaboration across disciplines, and the importance of supporting non-geneticist specialist medical professionals to integrate genomics into their practice.

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Fridman, Eyal, et Eran Pichersky. Tomato Natural Insecticides : Elucidation of the Complex Pathway of Methylketone Biosynthesis. United States Department of Agriculture, décembre 2009. http://dx.doi.org/10.32747/2009.7696543.bard.

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Plant species synthesize a multitude of specialized compounds 10 help ward off pests. and these in turn may well serve as an alternative to synthetic pesticides to reduce environmental damage and health risks to humans. The general goal of this research was to perform a genetic and biochemical dissection of the natural-insecticides methylketone pathway that is specific to the glandular trichomes of the wild species of tomato, Solanumhabrochaites f. glabratum (accession PI126449). Previous study conducted by us have demonstrated that these compounds are synthesized de novo as a derivate pathway of the fatty acid biosynthesis, and that a key enzyme. designated MethylketoneSynthase 1 (MKS 1). catalyzes conversion of the intermediate B-ketoacyl- ACPs to the corresponding Cn-1 methylketones. The approach taken in this proposed project was to use an interspecific F2 population. derived from the cross between the cultivated lV182 and the wild species PIl26449. for three objectives: (i) Analyze the association between allelic status of candidate genes from the fatty acid biosynthesis pathway with the methylketone content in the leaves (ii) Perform bulk segregant analysis of genetic markers along the tomato genome for identifying genomic regions that harbor QTLs for 2TD content (iii) Apply differential gene expression analysis using the isolated glands of bulk segregant for identifying new genes that are involved in the pathway. The genetic mapping in the interspecific F2 population included app. 60 genetic markers, including the candidate genes from the FAS pathway and SSR markers spread evenly across the genome. This initial; screening identified 5 loci associated with MK content including the candidate genes MKS1, ACC and MaCoA:ACP trans. Interesting observation in this genetic analysis was the connection between shape and content of the glands, i.e. the globularity of the four cells, typical to the wild species. was associated with increased MK in the segregating population. In the next step of the research transcriptomic analysis of trichomes from high- and 10w-MK plants was conducted. This analysis identified a new gene, Methy1ketone synthase 2 (MKS2), whose protein product share sequence similarity to the thioesterase super family of hot-dog enzymes. Genetic analysis in the segregating population confirmed its association with MK content, as well as its overexpression in E. coli that led to formation of MK in the media. There are several conclusions drawn from this research project: (i) the genetic control of MK accumulation in the trichomes is composed of biochemical components in the FAS pathway and its vicinity (MKS 1 and MKS2). as well as genetic factors that mediate the morphology of these specialized cells. (ii) the biochemical pathway is now realized different from what was hypothesized before with MKS2 working upstream to I\1KS 1 and serves as the interface between primary (fatty acids) and secondary (MK) metabolism. We are currently testing the possible physical interactions between these two proteins in vitro after the genetic analysis showed clear epistatic interactions. (iii) the regulation of the pathway that lead to specialized metabolism in the wild species is largely mediated by transcription and one of the achievements of this project is that we were able to isolate and verify the specificity of the MKS1 promoter to the trichomes which allows manipulation of the pathways in these cells (currently in progress). The scientific implications of this research project is the advancement in our knowledge of hitherto unknown biochemical pathway in plants and new leads for studying a new family in plants (hot dog thioesterase). The agricultural and biotechnological implication are : (i) generation of new genetic markers that could assist in importing this pathway to cultivated tomato hence enhancing its natural resistance to insecticides, (ii) the discovery of MKS2 adds a new gene for genetic engineering of plants for making new fatty acid derived compounds. This could be assisted with the use of the isolated and verified MKS1 promoter. The results of this research were summarized to a manuscript that was published in Plant Physiology (cover paper). to a chapter in a proceeding book. and one patent was submitted in the US.

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Tzfira, Tzvi, Michael Elbaum et Sharon Wolf. DNA transfer by Agrobacterium : a cooperative interaction of ssDNA, virulence proteins, and plant host factors. United States Department of Agriculture, décembre 2005. http://dx.doi.org/10.32747/2005.7695881.bard.

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Agrobacteriumtumefaciensmediates genetic transformation of plants. The possibility of exchanging the natural genes for other DNA has led to Agrobacterium’s emergence as the primary vector for genetic modification of plants. The similarity among eukaryotic mechanisms of nuclear import also suggests use of its active elements as media for non-viral genetic therapy in animals. These considerations motivate the present study of the process that carries DNA of bacterial origin into the host nucleus. The infective pathway of Agrobacterium involves excision of a single-stranded DNA molecule (T-strand) from the bacterial tumor-inducing plasmid. This transferred DNA (T-DNA) travels to the host cell cytoplasm along with two virulence proteins, VirD2 and VirE2, through a specific bacteriumplant channel(s). Little is known about the precise structure and composition of the resulting complex within the host cell and even less is known about the mechanism of its nuclear import and integration into the host cell genome. In the present proposal we combined the expertise of the US and Israeli labs and revealed many of the biophysical and biological properties of the genetic transformation process, thus enhancing our understanding of the processes leading to nuclear import and integration of the Agrobacterium T-DNA. Specifically, we sought to: I. Elucidate the interaction of the T-strand with its chaperones. II. Analyzing the three-dimensional structure of the T-complex and its chaperones in vitro. III. Analyze kinetics of T-complex formation and T-complex nuclear import. During the past three years we accomplished our goals and made the following major discoveries: (1) Resolved the VirE2-ssDNA three-dimensional structure. (2) Characterized VirE2-ssDNA assembly and aggregation, along with regulation by VirE1. (3) Studied VirE2-ssDNA nuclear import by electron tomography. (4) Showed that T-DNA integrates via double-stranded (ds) intermediates. (5) Identified that Arabidopsis Ku80 interacts with dsT-DNA intermediates and is essential for T-DNA integration. (6) Found a role of targeted proteolysis in T-DNA uncoating. Our research provide significant physical, molecular, and structural insights into the Tcomplex structure and composition, the effect of host receptors on its nuclear import, the mechanism of T-DNA nuclear import, proteolysis and integration in host cells. Understanding the mechanical and molecular basis for T-DNA nuclear import and integration is an essential key for the development of new strategies for genetic transformation of recalcitrant plant species. Thus, the knowledge gained in this study can potentially be applied to enhance the transformation process by interfering with key steps of the transformation process (i.e. nuclear import, proteolysis and integration). Finally, in addition to the study of Agrobacterium-host interaction, our research also revealed some fundamental insights into basic cellular mechanisms of nuclear import, targeted proteolysis, protein-DNA interactions and DNA repair.

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Lichter, Amnon, Gopi K. Podila et Maria R. Davis. Identification of Genetic Determinants that Facilitate Development of B. cinerea at Low Temperature and its Postharvest Pathogenicity. United States Department of Agriculture, mars 2011. http://dx.doi.org/10.32747/2011.7592641.bard.

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Botrytis cinerea is the postharvest pathogen of many agricultural produce with table grapes, strawberries and tomatoes as major targets. The high efficiency with which B. cinerea causes disease on these produce during storage is attributed in part due to its exceptional ability to develop at very low temperature. Our major goal was to understand the genetic determinants which enable it to develop at low temperature. The specific research objectives were: 1. Identify expression pattern of genes in a coldenriched cDNA library. 2. Identify B. cinerea orthologs of cold-induced genes 3. Profile protein expression and secretion at low temperature on strawberry and grape supplemented media. 4. Test novel methods for the functional analysis of coldresponsive genes. Objective 1 was modified during the research because a microarray platform became available and it allowed us to probe the whole set of candidate genes according to the sequence of 2 strains of the fungus, BO5.10 and T4. The results of this experiment allowed us to validate some of our earlier observations which referred to genes which were the product of a SSH suppression-subtraction library. Before the microarray became available during 2008 we also analyzed the expression of 15 orthologs of cold-induced genes and some of these results were also validated by the microarray experiment. One of our goals was also to perform functional analysis of cold-induced genes. This goal was hampered for 3 years because current methodology for transformation with ‘protoplasts’ failed to deliver knockouts of bacteriordopsin-like (bR) gene which was our primary target for functional analysis. Consequently, we developed 2 alternative transformation platforms, one which involves an air-gun based technique and another which involves DNA injection into sclerotia. Both techniques show great promise and have been validated using different constructs. This contribution is likely to serve the scientific community in the near future. Using these technologies we generated gene knockout constructs of 2 genes and have tested there effect on survival of the fungus at low temperature. With reference to the bR genes our results show that it has a significant effect on mycelial growth of the B. cinerea and the mutants have retarded development at extreme conditions of ionic stress, osmotic stress and low temperature. Another gene of unknown function, HP1 is still under analysis. An ortholog of the yeast cold-induced gene, CCH1 which encodes a calcium tunnel and was shown to be cold-induced in B. cinerea was recently cloned and used to complement yeast mutants and rescue them from cold-sensitivity. One of the significant findings of the microarray study involves a T2 ribonuclease which was validated to be cold-induced by qPCR analysis. This and other genes will serve for future studies. In the frame of the study we also screened a population of 631 natural B. cinerea isolates for development at low temperature and have identified several strains with much higher and lower capacity to develop at low temperature. These strains are likely to be used in the future as candidates for further functional analysis. The major conclusions from the above research point to specific targets of cold-induced genes which are likely to play a role in cold tolerance. One of the most significant observations from the microarray study is that low temperature does not induce ‘general stress response in B. cinerea, which is in agreement to its exceptional capacity to develop at low temperature. Due to the tragic murder of the Co-PI Maria R. Davis and GopiPodila on Feb. 2010 it is impossible to deliver their contribution to the research. The information of the PI is that they failed to deliver objective 4 and none of the information which relates to objective 3 has been delivered to the PI before the murder or in a visit to U. Alabama during June, 2010. Therefore, this report is based solely on the IS data.

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Cohen, Jerry D., et Ephraim Epstein. Metabolism of Auxins during Fruit Development and Ripening. United States Department of Agriculture, août 1995. http://dx.doi.org/10.32747/1995.7573064.bard.

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We had proposed to look at several aspects of auxin metabolism in fruit tissues: 1) IAA biosynthesis from tryptophan and IAA biosynthesis via the non-tryptophan pathway; 2) changes in the capacity to form conjugates and catabolites of auxin at different times during fruit development and; 3) the effects of modifying auxin metabolism in fruit tissues. The latter work focused primarily on the maize iaglu gene, with initial studies also using a bacterial gene for hydrolysis of IAA-aspartate. These metabolic and molecular studies were necessary to define potential benefits of auxin metabolism modification and will direct future efforts for crop improvement by genetic methods. An in vitro system was developed for the production of tomato fruit in culture starting from immature flowers in order to ascertain the effect of auxin modification on fruit ripening. IAA supplied to the fruit culture media prior to breaker stage resulted in an increase in the time period between breaker and red-ripe stages from 7 days without additional IAA to 12 days when 10-5 M IAA was added. These results suggest that significant changes in the ripening period could be obtained by alteration of auxin relationships in tomato fruit. We generated transgenic tomato plants that express either the maize iaglu gene or reduced levels of the gene that encodes the enzyme IAA-glucose synthetase. A modified shuttle vector pBI 121 expressing the maize iaglu gene in both sense and antisense orientations under a 35S promoter was used for the study. The sense plants showed total lack of root initiation and development. The antisense transgenic plants, on the other hand, had unusually well developed root systems at early stages in development. Analysis showed that the amount and activity of the endogenous 75 kDa IAGLU protein was reduced in these plants and consequently these plants had reduced levels of IAA-glucose and lower overall esterified IAA.

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Applebaum, Shalom W., Lawrence I. Gilbert et Daniel Segal. Biochemical and Molecular Analysis of Juvenile Hormone Synthesis and its Regulation in the Mediterranean Fruit Fly (Ceratitis capitata). United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7570564.bard.

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Original Objectives and revisions: (1) "To determine the biosynthetic pathway of JHB3 in the adult C. capitata CA in order to establish parameters for the future choice and synthesis of suitable inhibitors". Modified: to determine the pattern of FR-7 biosynthesis during normal reproductive maturation, and identify enzymes potentially involved in its synthesis. (2) "To correlate allatal epoxidase activity to the biosynthesis of JHB3 at different stages of reproductive maturation/vitellogenesis and evaluate the hypothesis that a specific JH-epoxidase may be rate limiting". Modified: to study the effects of epoxidase inhibitors on the pattern of allatal JH biosynthesis in vitro and on female reproduction in vive. (3) "To probe and clone the gene homologous to ap from C. capitata, determine its exon-intron organization, sequence it and demonstrate its spatial and temporal expression in larvae, pupae and adults." The "Medfly" (Ceratitis capitata) is a serious polyphagous fruit pest, widely distributed in subtropical regions. Damage is caused by oviposition and subsequent development of larvae. JH's are dominant gonadotropic factors in insects. In the higher Diptera, to which the Medfly belongs, JHB3 is a major homolog. It comprises 95% of the total JH produced in vitro in D. melanogaster, with JH-III found as a minor component. The biosynthesis of both JH-III and JHB3 is dependent on epoxidation of double bonds in the JH molecule. The specificity of such epoxidases is unknown. The male accessory gland D. melanogaster produces a Sex Peptide, transferred to the female during copulation. SP reduces female receptivity while activating specific JH biosynthesis in vitro and inducing oviposition in vive. It also reduces pheromone production and activates CA of the moth Helicoverpa armigera. In a previous study, mutants of the apterous (ap) gene of D. melanogaster were analyzed. This gene induces previteilogenic arrest which can be rescued by external application of JH. Considerable progress has been made in recombinant DNA technology of the Medfly. When fully operative, it might be possible to effectively transfer D. melanogaster endocrine gene-lesions into the Medfly as a strategy for their genetic control. A marked heterogeneity in the pattern of JH homologs produced by Medfly CA was observed. Contrary to the anticipated biosynthesis of JHB;, significant amounts of an unknown JH-like compound, of unknown structure and provisionally termed FR-7, were produced, in addition to significant amounts of JH-III and JHB3. Inhibitors of monooxygenases, devised for their effects on ecdysteroid biosynthesis, affect Medfly JH biosynthesis but do not reduce egg deposition. FR-7 was isolated from incubation media of Medfly CA and examined by various MS procedures, but its structure is not yet resolved. MS analysis is being done in collaboration with Professor R.R.W. Rickards of the Australian National University in Canberra, Australia. A homologue of the ap gene of D. melanogaster exists in the Medfly. LIM domains and the homeo-domain, important for the function of the D. melanogaster ap gene, are conserved here too. Attempts to clone the complete gene were unsuccessful. Due to the complexity of JH homologs, presence of related FR-7 in the biosynthetic products of Medfly CA and lack of reduction in eggs deposited in the presence of monooxygenase inhibitors, inhibition of epoxidases is not a feasible alternative to control Medfly reproduction, and raises questions which cannot be resolved within the current dogma of hormonal control of reproduction in Diptera. The Medfly ap gene has similar domains to the D. melanogaster ap gene. Although mutant ap genes are involved in JH deficiency, ap is a questionable candidate for an endocrine lesion, especially since the D. melanogoster gene functions is a transcription factor.

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