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Littérature scientifique sur le sujet « Clinical and genetic analysis »

Auteur : Grafiati

Publié le 8 mars 2025

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Articles de revues sur le sujet "Clinical and genetic analysis"

Kingston, H. M. « ABC of clinical genetics. DNA analysis in genetic disorders. » BMJ 299, n^o 6692 (15 juillet 1989) : 170–74. http://dx.doi.org/10.1136/bmj.299.6692.170.

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Sax, Christina M., et David B. Flannery. « Craniofrontonasal dysplasia : clinical and genetic analysis ». Clinical Genetics 29, n^o 6 (23 avril 2008) : 508–15. http://dx.doi.org/10.1111/j.1399-0004.1986.tb00552.x.

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Bonifati, Vincenzo, Edito Fabrizio, Nicola Vanacore, Michele De Mari et Giuseppe Meco. « Familial Parkinson’s Disease : A Clinical Genetic Analysis ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 22, n^o 4 (novembre 1995) : 272–79. http://dx.doi.org/10.1017/s0317167100039469.

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AbstractObjectiveTo study the frequency, clinical features and clinical genetics of familial Parkinson’s disease (PD).MethodsFamily history for PD and tremors was studied in 100 consecutive PD cases. Spouses served as controls. Clinical features were compared between personally verified familial and sporadic PD cases, from the same consecutive clinical series. Clinical genetic analysis was performed in a larger group of non-consecutive multicase PD families.ResultsFamily history for PD was positive in 24% of consecutive PD cases and in 6% of spouse controls (p < 0.001). When family history for isolated tremor is also considered, the number of positive cases rises to 43% compared with 9% in controls (p < 0.001). Nine of the consecutive cases had at least one living affected relative, for a total of 20 familial PD cases. These familial cases showed an earlier onset age when compared with sporadic ones from the same consecutive series. Within 22 non-consecutive PD families with at least two living and personally examined PD cases (total 52 PD cases), the crude segregation ratios were similar for parents and siblings and the lifetime cumulative risks approached 0.4 in siblings and tended to be comparable, but at later ages, in parents. Ancestral relatives were all unilaterally distributed. In some families, anticipation of onset age in new generations was observed.ConclusionsThe frequency of positive family history for PD and for PD and tremor is higher among PD cases than controls. Familial and sporadic PD only differ in onset age. The clinical genetic analyses support autosomal dominant inheritance with strongly age-related penetrance as most likely in familial PD.

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Hampel, Heather, Robin E. Grubs, Carol S. Walton, Emma Nguyen, Daniel H. Breidenbach, Steve Nettles, Meagan Corliss et al. « Genetic Counseling Practice Analysis ». Journal of Genetic Counseling 18, n^o 3 (11 mars 2009) : 205–16. http://dx.doi.org/10.1007/s10897-009-9216-1.

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Pittman, Alan, et John Hardy. « Genetic Analysis in Neurology ». JAMA Neurology 70, n^o 6 (1 juin 2013) : 696. http://dx.doi.org/10.1001/jamaneurol.2013.2068.

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Millichap, J. Gordon. « Clinical and Genetic Analysis of Myoclonus-Dystonia ». Pediatric Neurology Briefs 23, n^o 7 (1 juillet 2009) : 53. http://dx.doi.org/10.15844/pedneurbriefs-23-7-7.

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TSUNEKAWA, Katsuhiko, et Masami MURAKAMI. « Clinical Application of Genetic Analysis in Obesity ». Oleoscience 10, n^o 10 (2010) : 351–57. http://dx.doi.org/10.5650/oleoscience.10.351.

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Reddy, P. Leema, et Raji P. Grewal. « Friedreich's ataxia : A clinical and genetic analysis ». Clinical Neurology and Neurosurgery 109, n^o 2 (février 2007) : 200–202. http://dx.doi.org/10.1016/j.clineuro.2006.09.003.

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Quarrell, O. « Primer of Genetic Analysis ». Journal of Medical Genetics 25, n^o 5 (1 mai 1988) : 359. http://dx.doi.org/10.1136/jmg.25.5.359-a.

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Togo, M., T. Toda, L. A. Nguyen, S. Kubota, K. Tsukamoto, H. Satoh, M. Hara et al. « Genetic analysis of phytosterolaemia ». Journal of Inherited Metabolic Disease 24, n^o 1 (février 2001) : 43–50. http://dx.doi.org/10.1023/a:1005650605042.

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Thèses sur le sujet "Clinical and genetic analysis"

Campino, Susana. « Genetic analysis of murine malaria ». Doctoral thesis, Umeå universitet, Medicinsk biovetenskap, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-124.

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Malaria, an infectious disease caused by Plasmodium parasites, is one of the major world-scale health problems. Despite the efforts aimed at finding an effective way to control the disease, the success has been thwarted by the emergence of parasite drug resistance and mosquito resistance to insecticides. This thesis focuses on the genetic analysis of resistance to murine malaria induced by the lethal Plasmodium berghei ANKA using a wild-derived-inbred strain (WDIS). The aim of this thesis was to exploit the genetic diversity represented among WDIS for identifying loci contributing to resistance/susceptibility to murine malaria. The work included a genome-wide polymorphism survey using microsatellite markers performed on 10 WDIS. Comparisons of these strains to laboratory inbred strains confirmed a higher rate of polymorphism among the WDIS. We conclude that these WDIS represent repositories of unique naturally occurring genetic variability that may prove to be invaluable for the study of complex phenotypes. Next, we used the WDIS to search for novel phenotypes related to malaria pathogenesis. Whereas most laboratory strains were susceptible to experimental cerebral malaria (ECM) after infection with P. berghei ANKA, several WDIS were found to be resistant. To study the genetic inheritance of resistant/susceptibility to P. berghei ANKA infection we analysed backcross and F2 cohorts derived from crossing the WLA wild-derived strain with a laboratory mouse strain (C57BL/6). A novel phenotype represented by the cure of infection, clearance of parasitaemia and establishment of immunological memory was observed in the F2 progeny. The backcross progeny was used to genetically map one locus on chromosome 1 (Berr1) and one locus on chromosome 11 (Berr2) that mediate control of resistance to ECM induced by P. berghei ANKA. Genetic mapping using the F2 progeny showed that a locus on chromosome 1 (Berr1) and a locus on chromosome 9 (Berr3) were contributing to control survival time after infection with lethal Plasmodium. Finally, we identified, a locus on chromosome 4 (Berr4) that appears to control time of death due to hyperparasitaemia. This thesis underlines the value of using WDIS to reveal genetic factors involved in the aetiology of disease phenotypes. The characterisation of the genetic factors represented by the malaria resistance loci identified here are expected to provide a better understanding of the malaria pathology.

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Gill, Harinder Kaur. « Congenital heart defects : a clinical and genetic analysis ». Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.416110.

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Hodge, Penelope Jane. « Clinical and genetic analysis of early onset periodontitis ». Thesis, University of Glasgow, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301834.

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Ameen, Mahreen. « Genetic analysis of psoriasis and its clinical subtypes ». Thesis, King's College London (University of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428496.

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Woodburn, Kirstie Jane. « Presenile dementia in Lothian, Scotland : a clinical and genetic analysis ». Thesis, University of Edinburgh, 1997. http://hdl.handle.net/1842/21617.

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The study aim was to identify the population of live patients in the Lothian area of Scotland, with presenile dementia of various aetiologies, and to describe the clinical profiles of each and the patterns of decline which occur, together with any genetic characterisation possible. Cases were identified using the Lothian Psychiatric Case Register. For the demographic data, the CAMDEX (The Cambridge Examination of Mental Disorders of the Elderly) informant interview was used. The behavioural assessment comprised the CAPE-BRS (Clifton Assessment Procedure for the Elderly, Behavioural Rating Scale), the Cornell Depression Scale and the MOUSEPAD, a new behavioural and psychopathological assessment. Of 290 potential cases, 164 (57%) were excluded. Reasons: Death 50 (31%), Unsuitable 40 (24%), Refused 40 (24%), Untraced 23 (14%), Out of area 11 (7%), Of the 126 (43%) seen, 112 (89%) met DSM3R (Diagnostic and Statistical manual of Mental Disorders, Third Edition, Revised) criteria for dementia. 63 (56%) of the 112 were rated as DSM3R severe type. 80 (72%) of the 112 fulfilled the McKhann criteria for Alzheimer's Disease. Full description of the group is available. The genetic testing included Apolipoprotein E, α-1 antichymotrypsin and Very Low Density Lipoprotein Receptor (VLDL-R) allele typing. Important data concerning the services provided and used by this group of patients and their carers has been collected and can be shared with organisations working to find funding for presenile dementia in the health service. This study will provide a thoroughly documented and clinically well worked-up sample. The analysis of the work will help to identify if subgroups exist, according to the patterns of various clinical features, the rates of decline and genetic variations. This would in turn, give a greater chance to plan appropriately for all those involved in caring for and managing these illnesses.

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Goode, Ellen Lee. « Epidemiology of hereditary prostate cancer : genetic analysis of susceptibility loci incorporating clinical characteristics / ». Thesis, Connect to this title online ; UW restricted, 2000. http://hdl.handle.net/1773/10856.

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Fjellstedt, Erik. « Clinical and genetic studies on patients with cystinuria / ». Linköping : Univ, 2003. http://www.bibl.liu.se/liupubl/disp/disp2003/med817s.pdf.

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Lindforss, Ulrik. « On the clinical value of genetic analysis in colorectal cancer patients / ». Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-742-8.

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Mullan, Michael John. « The genetic analysis and clinical features of early onset familial Alzheimer's disease ». Thesis, Imperial College London, 1993. http://hdl.handle.net/10044/1/7732.

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This thesis details the genetic analysis and clinico-genetic correlates of early onset familial Alzheimer's disease (AD). Multiply affected families have been examined for linkage to markers on two candidate chromosomes, 21 and 14. The analysis demonstrates linkage between the β amyloid precursor protein (APP) gene and AD in five early onset (< 65 years) families in which three different mutations were subsequently discovered. Simulation studies were used extensively and enabled the evaluation of lod values below the accepted criterion of 3.0 in single families. Clinical details of these families are presented. In general, these families show classical AD symptoms and signs but with additional prominent features previously recognised in early onset disease. Linkage to βAPP is excluded in analyses of other early onset families which are shown to be linked to the long arm of chromosome 14. A comparison of clinical features is made between allelic variants of the βAPP locus and chromosome 14 linked families. In particular, analysis of variance of age of onset in early onset families supports the notion of clinico-genetic heterogeneity by demonstrating family specific ages of onset and correlation between genetic aetiology and age of onset; the very early onset families show collective evidence of linkage to chromosome 14 and the families with mean onset in the 50s have βAPP mutations.

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Al-Malky, G. M. A. « An analysis of ototoxicity in children : audiological detection, clinical practice and genetic susceptibility ». Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1450003/.

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Ototoxicity is the damage to the ear from exposure to medications. The inner ear is the commonest site of damage where cochlear and/or vestibular functions are affected. Ototoxic medications can cause irreversible toxicity, with aminoglycosides (AGs) and cisplatin being the most established agents. A series of studies are reported in this research under three main themes. Theme A focused on audiological assessments and assessment tools; Theme B focused on causation; and Theme C focused on the impact of ototoxicity and current service provision. The main Theme A study was a clinical observational study with a cross-sectional design assessing the auditory status of children with cystic fibrosis (CF) exposed to AGs. Theme B investigated potential risk factors and aspects in genetics that may be associated with increasing patient susceptibility to the ototoxic effect of AGs. Theme C assessed the effect of ototoxicity on the quality of life (QoL) of children surviving cancer. It also included a survey of current UK practice regarding auditory monitoring for ototoxicity. The novel outcomes of these studies included showing that the prevalence of AG ototoxicity in children with CF is higher than previously reported and evaluating the efficacy of auditory assessment tools. They stressed the importance of choosing appropriate criteria to define ototoxicity and identified potential risk factors associated with it. The genetic studies highlighted a rare case of normal hearing in a child with the m.1555 A>G mutation despite exposure to AGs. They complemented the limited research on the impact of ototoxicity in children on their QoL and on current practice. The latter identified gaps in the provision of ototoxicity monitoring services in the UK, especially due to the absence of nationally agreed guidelines. This research has generated recommendations for several future studies and has informed the clinical management of patients with CF.

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Livres sur le sujet "Clinical and genetic analysis"

Z, Jankowski Janusz A., Polak Julia M et Royal Postgraduate Medical School, dir. Clinical gene analysis and manipulation : Tools, techniques, and troubleshooting. Cambridge : Published in association with the Royal Postgraduate Medical School, University of London by Cambridge University Press, 1996.

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Ried, Thomas, et Jeff Green. Genetically engineered mice for cancer research : Design, analysis, pathways, validation and pre-clinical testing. New York : Springer Verlag, 2012.

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Killeen, Anthony A. Principles of molecular pathology. Totowa, N.J : Humana Press, 2004.

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Killeen, Anthony A. Principles of molecular pathology. Totowa, N.J : Humana Press, 2004.

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author, Thompson Simon G., dir. Mendelian randomization : Methods for using genetic variants in causal estimation. Boca Raton : CRC Press, Taylor & Francis Group, 2015.

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International Workshop on Carbonic Anhydrase (1990 Spoleto, Italy). Carbonic anhydrase : From biochemistry and genetics to physiology and clinical medicine : proceedings of the International Workshop on Carbonic Anhydrase, held in Spoleto, Italy in March 1990. New York : VCH, 1991.

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Griffiths, Anthony J. F. Modern genetic analysis. New York : W.H. Freeman : NCBI, 2001.

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F, Griffiths Anthony J., dir. Modern genetic analysis. New York : W.H. Freeman, 1999.

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F, Griffiths Anthony J., dir. Introduction to genetic analysis. 9^e éd. New York : W.H. Freeman and Co., 2008.

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F, Griffiths Anthony J., dir. Introduction to genetic analysis. 6^e éd. New York : W.H. Freeman and Co., 1996.

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Chapitres de livres sur le sujet "Clinical and genetic analysis"

Cleophas, Ton J., Aeilko H. Zwinderman et Toine F. Cleophas. « Statistical Analysis of Genetic Data ». Dans Statistics Applied to Clinical Trials, 261–69. Dordrecht : Springer Netherlands, 2006. http://dx.doi.org/10.1007/978-1-4020-4650-6_23.

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Cleophas, Ton J., et Aeilko H. Zwinderman. « Statistical Analysis of Genetic Data ». Dans Statistics Applied to Clinical Studies, 445–53. Dordrecht : Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-2863-9_40.

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Cleophas, Ton J., Aeilko H. Zwinderman et Toine F. Cleophas. « Statistical Analysis of Genetic Data ». Dans Statistics Applied to Clinical Trials, 167–76. Dordrecht : Springer Netherlands, 2002. http://dx.doi.org/10.1007/978-94-010-0337-7_16.

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Renwick, Pamela, et Gheona Altarescu. « PGD Analysis of Embryos for Monogenic Disorders ». Dans Preimplantation Genetic Diagnosis in Clinical Practice, 83–100. London : Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-2948-6_8.

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Boland, Mary Regina. « Clinical Genetic Databases : ClinVar, ACMG Clinical Practice Guidelines ». Dans Health Analytics with R, 109–53. Cham : Springer Nature Switzerland, 2024. https://doi.org/10.1007/978-3-031-74383-2_4.

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Fan, Ning, Xuyang Liu et Jiantao Wang. « The Clinical and Genetic Analysis of Stargardt’s Disease ». Dans Advances in Visual Science and Eye Diseases, 195–211. Singapore : Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-2502-1_22.

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Ogino, Shuji, et Robert B. Wilson. « Bayesian Analysis ». Dans Molecular Pathology in Clinical Practice : Genetics, 59–70. Boston, MA : Springer US, 2009. http://dx.doi.org/10.1007/978-0-387-87374-9_5.

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Vilain, Eric. « Anomalies of Human Sexual Development : Clinical Aspects and Genetic Analysis ». Dans The Genetics and Biology of Sex Determination, 43–56. Chichester, UK : John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/0470868732.ch5.

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Yapijakis, Christos, Anna Douka, Iphigenia Gintoni, Konstantinos Agiannitopoulos, Dimitrios Vlachakis et George P. Chrousos. « Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia ». Dans Advances in Experimental Medicine and Biology, 181–86. Cham : Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-31978-5_15.

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Chen, Yung-Fu, Yung-Fa Huang, Xiaoyi Jiang, Yuan-Nian Hsu et Hsuan-Hung Lin. « Design of Clinical Support Systems Using Integrated Genetic Algorithm and Support Vector Machine ». Dans Computer Analysis of Images and Patterns, 791–98. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-642-03767-2_96.

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Actes de conférences sur le sujet "Clinical and genetic analysis"

Petreska, Anita, Sasho Nikolovski, Gabriela Novotni et Blagoj Ristevski. « Analysis of Clinical, Genetic, and Demographic Data for Prediction of Alzheimer's Disease with Machine Learning ». Dans 2024 10th International Conference on Control, Decision and Information Technologies (CoDIT), 569–74. IEEE, 2024. http://dx.doi.org/10.1109/codit62066.2024.10708434.

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Ching-Roa, Vincent Ralph D., Songfeng Han, Jingxuan Ren, Gabriel A. Ramirez, Seung Hyun Kim et Regine Choe. « Diffuse Correlation Tomography Geometry Optimization with Genetic Algorithm Using Singular Value Analysis ». Dans Clinical and Translational Biophotonics. Washington, D.C. : OSA, 2018. http://dx.doi.org/10.1364/translational.2018.jw3a.22.

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Gray, H. F. « Genetic programming for the analysis of nuclear magnetic resonance spectroscopy data ». Dans IEE Colloquium on Realising the Clinical Potential of Magnetic Resonance Spectroscopy : the Role of Pattern Recognition. IEE, 1997. http://dx.doi.org/10.1049/ic:19970474.

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Federici, Silvia, Gian Marco Moneta, Chiara Passarelli, Claudia Bracaglia, Gerarda Luana Raffaele, Fabrizio De Benedetti et Antonella Insalaco. « FRI0542 CLINICAL PRESENTATION, GENETIC ANALYSIS AND IFN-SCORE IN PATIENTS WITH UNDEFINED INTERFERONOPATHIES ». Dans Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.6128.

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Robichaux, C. « Clinical Occurrence of Genetic Mutational Analysis Testing in American Indians with Lung Cancer ». Dans American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a3978.

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Korchagin, V. I., O. P. Dribnokhodova et K. O. Mironov. « CLINICAL TRIALS OF THE DIAGNOSTIC SYSTEM FOR THE ANALYSIS OF GENETIC RISKS OF CARDIOEMBOLIC AND ATHEROTROMBOTIC SUBTYPES OF ISCHEMIC STROKE ». Dans Molecular Diagnostics and Biosafety. Federal Budget Institute of Science 'Central Research Institute for Epidemiology', 2020. http://dx.doi.org/10.36233/978-5-9900432-9-9-212.

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A clinical trial of the diagnostic kit for analysis of the genetic predisposition to ischemic stroke was carried out on an 767 independent blood samples. Genetic risk’s values of ischemic stroke were determined in the groups of patients and control, and its distribution between 6 groups of SNP combinations was analyzed in accordance with the suggested model. The differences by genetic risk values between the patient’s samples and the control group were determined as statistically significant (p<0.01) for two groups of loci associated with an increased risk of atherothrombotic and cardioembolic ischemic stroke subtypes in the corresponding patient’s subgroups. Registration certificate No. RZN 2019/8874 dated 05.09.2019 was issued according to the results of the clinical trial of the diagnostic kit for determining the genetic risk of ischemic stroke «AmpliSens ® Genoscreen Stroke SNP-FL».

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Weng, Meng Tzu, et Shu Chen Wei. « Abstract LB-11 : Clinical and genetic analysis of Peutz-Jeghers syndrome patients in Taiwan ». Dans Proceedings : AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010 ; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-lb-11.

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Smatti, Maria K., Yasser Al-Sarraj, Omar Albagha et Hadi M. Yassine. « Host Genetic Variants Potentially Associated with SARS-Cov-2 : A Multi-Population Analysis ». Dans Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0298.

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Background: Clinical outcomes of Coronavirus Disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) showed enormous inter-individual and interpopulation differences, possibly due to host genetics differences. Earlier studies identified single nucleotide polymorphisms (SNPs) associated with SARS-CoV-1 in Eastern Asian (EAS) populations. In this report, we aimed at exploring the frequency of a set of genetic polymorphisms that could affect SARS-CoV-2 susceptibility or severity, including those that were previously associated with SARS-CoV-1. Methods: We extracted the list of SNPs that could potentially modulate SARS-CoV-2 from the genome wide association studies (GWAS) on SARS-CoV-1 and other viruses. We also collected the expression data of these SNPs from the expression quantitative trait loci (eQTLs) databases. Sequences from Qatar Genome Programme (QGP, n=6,054) and 1000Genome project were used to calculate and compare allelic frequencies (AF). Results: A total of 74 SNPs, located in 10 genes: ICAM3, IFN-γ, CCL2, CCL5, AHSG, MBL, Furin, TMPRSS2, IL4, and CD209 promoter, were identified. Analysis of Qatari genomes revealed significantly lower AF of risk variants linked to SARS-CoV-1 severity (CCL2, MBL, CCL5, AHSG, and IL4) compared to that of 1000Genome and/or the EAS population (up to 25-fold change). Conversely, SNPs in TMPRSS2, IFN-γ, ICAM3, and Furin were more common among Qataris (average 2-fold change). Inter-population analysis showed that the distribution of risk alleles among Europeans differs substantially from Africans and EASs. Remarkably, Africans seem to carry extremely lower frequencies of SARS-CoV-1 susceptibility alleles, reaching to 32-fold decrease compared to other populations. Conclusion: Multiple genetic variants, which could potentially modulate SARS-CoV-2 infection, are significantly variable between populations, with the lowest frequency observed among Africans. Our results highlight the importance of exploring population genetics to understand and predict COVID-19 outcomes. Indeed, further studies are needed to validate these findings as well as to identify new genetic determinants linked to SARS-CoV-2.

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Adduri, Raju S., Viswakalyan Kotapalli, Rajender K. K, Swarnalata Gowrishankar, Saumyadipta Pyne, Mukta Srinivasulu, Subramanyeshwar Rao et al. « Abstract 1883 : Clinical and molecular genetic analysis of squamous cell carcinoma of the oral tongue ». Dans Proceedings : AACR Annual Meeting 2014 ; April 5-9, 2014 ; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-1883.

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Koppes, Ryan A., Nathan R. Schiele, Douglas M. Swank, Douglas B. Chrisey et David T. Corr. « Passive Mechanical Analysis of Engineered Myotube Fibers ». Dans ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206825.

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The loss of functional muscle as a product of genetic disease, traumatic injury, or surgical excisions results in a physiological deficiency that still remains without an effective clinical treatment [1]. Engineering of functional tissue in vitro for replacement in vivo might pose as a potential remedy for this clinical demand. By approaching tissue engineering from the bottom-up, geometrically directing myoblast growth provides a means for constructing tissue replacements cell-by-cell versus the traditional decellularized construct that remains limited by its size and ability to deliver cellular nutrients. Furthermore, geometrically controlling the growth of myoblasts allows for direct manipulation of the structural and mechanical properties inherent to muscular tissue.

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Rapports d'organisations sur le sujet "Clinical and genetic analysis"

Wu, Ling, Tao Zhang, Yao Wang, Xiao Ke Wu, Tin Chiu Li, Pui Wah Chung et Chi Chiu Wang. Polymorphisms and premature ovarian insufficiency and failure : A comprehensive meta-analysis update, subgroup, ranking, and network analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, janvier 2022. http://dx.doi.org/10.37766/inplasy2022.1.0052.

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Review question / Objective: Early identification of women potentially who develop POI and POF is essential for early screening and treatment to improve clinical outcomes. We aim to conduct a comprehensive meta-analysis update, subgroup, ranking and network analysis for all available genetic polymorphism and associated with the POI and POF risk. Information sources: Six electronic databases will be included such as PubMed, Web of Science, Embase, MEDLINE, WANFANG DATA, CNKI. Will contact with authors by emails when necessary.

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Liang, Zhuo, Qiuyue Wen, Jingjing Li, Dingyuan Zeng et Pingxiu Huang. A systematic review and meta-analysis : Clinical outcomes of recurrent pregnancy failure resulting from preimplantation genetic testing for aneuploidy. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, février 2023. http://dx.doi.org/10.37766/inplasy2023.2.0118.

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Wang, Wanqing, Fei Huang et Chunchao Han. Efficacy of Regimens in the Treatment of Latent Autoimmune Diabetes in Adults : A Network Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, octobre 2022. http://dx.doi.org/10.37766/inplasy2022.10.0072.

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Review question / Objective: Efficacy of Regimens in the Treatment of Latent Autoimmune Diabetes in Adults: A Network Meta-Analysis. Condition being studied: Latent autoimmune diabetes mellitus (LADA) in adults is a highly heterogeneous autoimmune disease with clinical and genetic characteristics between Type 1 Diabetes（T1DM） and Type 2 Diabetes（T2DM）, and therefore there are no uniform criteria for the selection of therapeutic agents. We conducted a web-based meta analysis to evaluate the efficacy of various therapeutic agents for LADA by comparing their effects on various indicators reflecting LADA disease.

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Mucke, Hermann. D6.5 Generic guideline for conducting an extended FtO analysis and FtO analyses for all intended clinical trials. REPO4EU, avril 2023. http://dx.doi.org/10.58647/repo4eu.202300d6.5.

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This document provides the generic methodology and specific resource access points to conduct a freedom-to-operate (FtO) analysis tailored to the needs of a drug repurposing project. It has been compiled based on the extensive experience the author has accumulated with many projects of this type. Its most valuable feature is that it can be executed with minimal technical resources (only web access is required) and can be conducted internally up to the point where potentially critical findings (if any) are discussed with a patent attorney. When conducted properly this method actually improves the relevance of the analysis because no patent attorney can be expected to be fully familiar with all scientific aspects of a repurposing project. Despite its simplicity it integrates easily into the REPO4EU drug repurposing platform as a module that draws mostly on internal resources, and involves minimal expenses. While patent searches form the dominant motive, we also discuss how suitable suppliers can be recruited, an issue that is particularly important when the active ingredient is reformulated (as mostly will be the case).

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

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Review question / Objective: Participants: experiment POI animal models; Interventions: human umbilical cord mesenchymal stem cells; Comparisons: POI animal models without hUCMSC therapy; Outcomes: estrous cycle situation, serum sex hormone level and ovarian follicle count; Studies: randomized controlled animal study; The aim of the review is to figure out whether hUCMSC can recover ovarian function in POI animal models. Condition being studied: Primary ovarian insufficiency (POI) is a syndrome characterized by reduced or absent ovarian function (hypogonadism) and elevated levels of gonadotropins, specifically luteinising hormone (LH) and follicle-stimulating hormone (FSH). Etiologies of POI are various. Genetic disorders, autoimmune diseases, iatrogenic injuries like chemotherapy and radiotherapy, and infectious diseases all contribute to the development of POI. Main manifestation of POI includes decreased ovarian function and infertility. Patients may suffer from menopausal symptoms, such as increased cardiovascular disease, decreased bone mineral density, vulvovaginal atrophy, psychological distress and so on. Current treatment of POI is limited. HRT mainly ameliorates symptoms while ART can achieve fertility in some patients but faces many challenges in clinical practice because it's hard to get satisfied oocytes. Stem cell therapy is proved to be efficient in recovering organ functions and hUCMSC is one of the easiest cell to obtain. So we think hUCMSC is promising in treating POI.

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Hutchinson, M. L., J. E. L. Corry et R. H. Madden. A review of the impact of food processing on antimicrobial-resistant bacteria in secondary processed meats and meat products. Food Standards Agency, octobre 2020. http://dx.doi.org/10.46756/sci.fsa.bxn990.

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For meat and meat products, secondary processes are those that relate to the downstream of the primary chilling of carcasses. Secondary processes include maturation chilling, deboning, portioning, mincing and other operations such as thermal processing (cooking) that create fresh meat, meat preparations and ready-to-eat meat products. This review systematically identified and summarised information relating to antimicrobial resistance (AMR) during the manufacture of secondary processed meatand meat products (SPMMP). Systematic searching of eight literature databases was undertaken and the resultantpapers were appraised for relevance to AMR and SPMMP. Consideration was made that the appraisal scores, undertaken by different reviewers, were consistent. Appraisal reduced the 11,000 initially identified documents to 74, which indicated that literature relating to AMR and SPMMP was not plentiful. A wide range of laboratory methods and breakpoint values (i.e. the concentration of antimicrobial used to assess sensitivity, tolerance or resistance) were used for the isolation of AMR bacteria.The identified papers provided evidence that AMR bacteria could be routinely isolated from SPMMP. There was no evidence that either confirmed or refuted that genetic materials capable of increasing AMR in non-AMR bacteria were present unprotected (i.e. outside of a cell or a capsid) in SPMMP. Statistical analyses were not straightforward because different authors used different laboratory methodologies.However, analyses using antibiotic organised into broadly-related groups indicated that Enterobacteriaceaeresistant to third generation cephalosporins might be an area of upcoming concern in SPMMP. The effective treatment of patients infected with Enterobacteriaceaeresistant to cephalosporins are a known clinical issue. No AMR associations with geography were observed and most of the publications identified tended to be from Europe and the far east.AMR Listeria monocytogenes and lactic acid bacteria could be tolerant to cleaning and disinfection in secondary processing environments. The basis of the tolerance could be genetic (e.g. efflux pumps) or environmental (e.g. biofilm growth). Persistent, plant resident, AMR L. monocytogenes were shown by one study to be the source of final product contamination. 4 AMR genes can be present in bacterial cultures used for the manufacture of fermented SPMMP. Furthermore, there was broad evidence that AMR loci could be transferred during meat fermentation, with refrigeration temperatures curtailing transfer rates. Given the potential for AMR transfer, it may be prudent to advise food business operators (FBOs) to use fermentation starter cultures that are AMR-free or not contained within easily mobilisable genetic elements. Thermal processing was seen to be the only secondary processing stage that served as a critical control point for numbers of AMR bacteria. There were significant linkages between some AMR genes in Salmonella. Quaternary ammonium compound (QAC) resistance genes were associated with copper, tetracycline and sulphonamide resistance by virtue of co-location on the same plasmid. No evidence was found that either supported or refuted that there was any association between AMR genes and genes that encoded an altered stress response or enhanced the survival of AMR bacteria exposed to harmful environmental conditions.

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Brannon, E. L., A. L. Setter, T. L. Welsh, S. J. Rocklage, G. H. Thorgaard et S. A. Cummings. Genetic analysis of Oncorhynchus nerka. Office of Scientific and Technical Information (OSTI), janvier 1992. http://dx.doi.org/10.2172/6973805.

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Barkan, Alice. Genetic Analysis of Chloroplast Translation. Office of Scientific and Technical Information (OSTI), août 2005. http://dx.doi.org/10.2172/842645.

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Herman, Gail E. Comprehensive Clinical Phenotyping & ; Genetic Mapping for the Discovery of Autism Susceptibility Genes. Fort Belvoir, VA : Defense Technical Information Center, décembre 2012. http://dx.doi.org/10.21236/ada607156.

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Herman, Gail E., Emily Hansen, Wolfgang Sadee, Ray Smith, Mary Beth Dewitt et Eric Seiber. Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes. Fort Belvoir, VA : Defense Technical Information Center, mars 2013. http://dx.doi.org/10.21236/ada585946.

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