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Bibliographies thématiques / Clinical and genetic analysis / Livres

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Livres sur le sujet « Clinical and genetic analysis »

Auteur : Grafiati

Publié le 8 mars 2025

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1

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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2

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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3

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

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4

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

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5

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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6

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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7

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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9

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

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10

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

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11

Griffiths, Anthony J. F. Introduction to genetic analysis. New York : W.H. Freeman and Co., 2012.

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12

F, Griffiths Anthony J., dir. Introduction to genetic analysis. 8^e éd. New York : W.H. Freeman and Co., 2005.

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13

Meneghini, Fabio, et Paolo Biondi. Clinical Facial Analysis. Berlin, Heidelberg : Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-27228-8.

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14

Human neuroblastoma : Recent advances in clinical and genetic analysis. Chur, Switzerland : Harwood Academic Publishers, 1992.

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15

(Foreword), Sir David Weatherall, Janusz A. Z. Jankowski (Editor) et Julia M. Polak (Editor), dir. Clinical Gene Analysis and Manipulation : Tools, Techniques and Troubleshooting (Postgraduate Medical Science). Cambridge University Press, 1996.

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16

Clinical bioinformatics. Totowa, N.J : Humana, 2007.

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Clinical bioinformatics. New York : Humana Press, 2014.

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18

Tonini, Gian. Human Neuroblastoma : Recent Advances in Clinical and Genetic Analysis. Routledge, 1993.

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19

Next generation sequencing : translation to clinical diagnostics. Springer, 2013.

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20

Dorsey, Caleb William. Molecular and genetic analysis of the iron regulon in different clinical isolates of Acinetobacter baumannii. 2002.

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21

Green, Jeffrey E., et Thomas Ried. Genetically Engineered Mice for Cancer Research : Design, Analysis, Pathways, Validation and Pre-Clinical Testing. Springer New York, 2014.

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22

Green, Jeffrey E., et Thomas Ried. Genetically Engineered Mice for Cancer Research : Design, Analysis, Pathways, Validation and Pre-Clinical Testing. Springer, 2011.

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23

Dunn, Michael J., et Jennifer E. Van Eyk. Clinical Proteomics : From Diagnosis to Therapy. Wiley & Sons, Limited, John, 2008.

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24

Brambati, Bruno, et Giuseppe Simoni. Chorionic Villus Sampling : Fetal Diagnosis of Genetic Diseases in the First Trimester (Clinical and Biochemical Analysis Series, Vol 21). Marcel Dekker, 1986.

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25

Arribas-Ayllon, Michael. Genetic Counseling in Psychiatry. Sous la direction de John Z. Sadler, K. W. M. Fulford et Werdie (C W. ). van Staden. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780198732372.013.54.

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This chapter offers a sober analysis of the history and prospects of genetic counseling in psychiatry. The present intersection of genetics and psychiatry is complex and limited in scope. The argument is made that recent genomic discoveries are unlikely to revolutionize genetic counseling because the complex nature of psychiatric conditions are not reducible to models of prediction. Susceptibility testing for psychiatric disorders is not a stable platform for clinical psychiatry because tests based on “common variation” are clinically unhelpful. Nevertheless, there are expectations that genetic counseling for psychiatry will be an area of growth and potential. The rest of the chapter focuses on the practical work of individuals and experts as they manage their moral or professional obligations to communicate and understand genetic risk in psychiatry.

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26

Jennifer E. Van Eyk (Editor) et Michael J. Dunn (Editor), dir. Clinical Proteomics : From Diagnosis to Therapy. Wiley-VCH, 2008.

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27

Multipoint mapping and linkage based upon affected pedigree members : Genetic Analysis Workshop 6, proceedings of a workshop held at Gulf Park, Long Beach, ... in clinical and biological research). Liss, 1989.

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28

The Principles of Clinical Cytogenetics. 2^e éd. Humana Press, 2004.

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29

Gersen, Steven, et Martha B. Keagle. The Principles of Clinical Cytogenetics. Humana Press, 2010.

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30

Bakhtiar, Syeda Marriam, et Erum Dilshad, dir. Omics Technologies for Clinical Diagnosis and Gene Therapy : Medical Applications in Human Genetics. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/97898150795171220101.

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Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: 1) Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. 2) Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. 3) Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.

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31

Clark, Robin D., et Cynthia J. Curry. Genetic Consultations in the Newborn. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.001.0001.

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This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of common neonatal anomalies and genetic syndromes accessible and understandable. In addition, the book may serve as an initial guide for practitioners in areas in which clinical genetic expertise is not readily available. As the book was being written, the testing paradigm shifted to a genomic approach: Chromosome analysis gave way to microarrays, and single gene testing was largely replaced by gene panels and exome sequencing. Thus, this book, which was initially intended as a clinical primer, of necessity became a resource for gene-based information as well.

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32

Sanders, Donald B. Clinical aspects of neuromuscular junction disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0023.

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Disorders that primarily impair neuromuscular transmission (NMT) produce weakness that characteristically affects certain muscle groups and varies with activity. Acquired, autoimmune myasthenia gravis (MG) is the most common of these disorders. Much less common are genetic abnormalities of the neuromuscular junction (NMJ), the Lambert–Eaton myasthenic syndrome (LEMS), and toxic effects of various biological and chemical agents. The diagnosis of MG or LEMS is suspected from the history and clinical findings, and is confirmed in most patients by the presence of specific auto-antibodies. The precise diagnosis of most genetic myasthenic syndromes may require sophisticated DNA analysis. Impaired NMT can be confirmed in all of these conditions by repetitive nerve stimulation (RNS) testing and measuring the neuromuscular jitter. Treatment of MG requires selecting among several therapeutic options, taking into consideration the clinical characteristics of the individual patient. Treatment of LEMS and genetic myasthenic syndromes is more limited.

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33

Wang, Guanyu. Analysis of Complex Diseases : A Mathematical Perspective. Taylor & Francis Group, 2013.

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Wang, Guanyu. Analysis of Complex Diseases : A Mathematical Perspective. Taylor & Francis Group, 2013.

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Wang, Guanyu. Analysis of Complex Diseases : A Mathematical Perspective. Taylor & Francis Group, 2013.

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Analysis of Complex Diseases : A Mathematical Perspective. Taylor & Francis Group, 2013.

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37

Samuels, Jack, Marco A. Grados, Elizabeth Planalp et O. Joseph Bienvenu. Genetic Understanding of OCD and Spectrum Disorders. Sous la direction de Gail Steketee. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780195376210.013.0025.

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This chapter reviews the evidence for the genetic etiology of OCD and spectrum conditions. A genetic basis is supported by the familial aggregation of OCD; evidence for involvement of genes of major effect in segregation analyses; and higher concordance for OCD in identical than non-identical twins. Recent studies also support linkage of OCD to specific chromosomal regions and association of OCD with specific genetic polymorphisms. However, specific genes causing OCD have not yet been firmly established. The search for genes is complicated by the clinical and etiologic heterogeneity of OCD, as well as the possibility of gene–gene and gene–environmental interactions. Despite this complexity, developments in molecular and statistical genetics, and further refinement of the phenotype hold promise for further deepening our genetic understanding of OCD and spectrum disorders in the coming decade.

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38

Burgess, Stephen, et Simon G. Thompson. Mendelian Randomization : Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

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39

Burgess, Stephen, et Simon G. Thompson. Mendelian Randomization : Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

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40

Burgess, Stephen, et Simon G. Thompson. Mendelian Randomization : Methods for Using Genetic Variants in Causal Estimation. Taylor & Francis Group, 2015.

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41

Dempsey, Owen. Anticipation and Medicine : A Critical Analysis of the Science, Praxis and Perversion of Evidence Based Healthcare. Taylor & Francis Group, 2018.

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42

Dempsey, Owen. Anticipation and Medicine : A Critical Analysis of the Science, Praxis and Perversion of Evidence Based Healthcare. Taylor & Francis Group, 2018.

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43

Mendelian Randomization : Methods for Causal Inference Using Genetic Variants. Taylor & Francis Group, 2021.

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44

Fleischman, Alan R. Ethical Issues in Genetic Testing and Screening in Children. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199354474.003.0005.

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This chapter describes genetic testing and screening in children and presents the many ethical issues associated with these practices. It examines the unique ethical concerns in genetic testing in children with particular emphasis on screening for adult-onset diseases, newborn screening, and whole exome or genome testing. Whole genome testing is now available as a clinical tool for patients with undefined disorders, and has also been offered directly to the public as a way of exploring risk of future disease. In the first decades of the 21st century the ability to examine single-gene disorders has exploded as technology has allowed for more rapid and less expensive analysis of individual gene loci. The chapter also deals with ethical concerns in genetic research, biobanking, and revealing research findings to patients and families.

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45

Bowman, John L., et Mark F. Sanders. Genetic Analysis. Pearson Education, Limited, 2014.

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46

Griffiths, Anthony J. F. Genetic Analysis. Freeman & Company, W. H., 1993.

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47

Bowman, John L., et Mark F. Sanders. Genetic Analysis. Pearson Education, Limited, 2013.

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48

Killeen, Anthony A. Principles of Molecular Pathology. Humana Press, 2003.

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49

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

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50

Mendelian Randomization : Methods for Using Genetic Variants in Causal Estimation. Taylor & Francis Group, 2015.

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