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Books on the topic 'Complex and Mendelian Human Genetic'

Author: Grafiati

Published: 4 June 2021

Last updated: 2 February 2022

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1

Mendelian inheritance in man: A catalog of human genes and genetic disorders. Johns Hopkins University Press, 1994.

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2

McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. John Hopkins University Press, 1994.

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3

McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. Johns Hopkins University Press, 1994.

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4

McKusick, Victor A. Mendelian inheritance in man: A catalog of human genes and genetic disorders. Johns Hopkins University Press, 1998.

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5

Ostrer, Harry. Non-mendelian genetics in humans. Oxford University Press, 1998.

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6

Genes, chromosomes, and disease: From simple traits, to complex traits, to personalized medicine. FT Press Science, 2011.

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7

Zeggini, Eleftheria. Analysis of complex disease association studies: A practical guide. Academic Press/Elsevier, 2011.

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8

Catalog of human cancer genes: McKusick's Mendelian inheritance in man for clinical and research oncologists (onco-MIM). Johns Hopkins University Press, 1999.

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9

McKusick, Victor A. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 9th ed. Johns Hopkins University Press, 1990.

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10

Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes. 7th ed. Johns Hopkins University Press, 1986.

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11

A, Francomano Clair, and Antonarakis Stylianos E, eds. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Johns Hopkins University Press, 1992.

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12

Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 8th ed. Johns Hopkins University Press, 1988.

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13

International Symposium on Human Origins and Genetics (2005 National Centre for Biological Sciences). Genes, evolution, and complex disease: An International Symposium on Human Origins and Genetics, February 17-19, 2005, National Centre for Biological Sciences, Bangalore, India. National Centre for Biological Sciences, Tata Institute of Fundamental Research, 2005.

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14

A, McKusick Victor. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Johns Hopkins Univ Pr, 1997.

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15

Hong-wen, Deng, and Shen Hui, eds. Current topics in human genetics: Studies in complex diseases. World Scientific, 2007.

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16

(Editor), Hong-Wen Deng, Hui Shen (Editor), and Yongjun Liu (Editor), eds. Current Topics in Human Genetics: Studies in Complex Diseases. World Scientific Publishing Company, 2007.

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17

1957-, Haines Jonathan L., and Pericak-Vance Margaret Ann, eds. Approaches to gene mapping in complex human diseases. Wiley-Liss, 1998.

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18

Coll, Cynthia Garcia, Richard M. Lerner, and Elaine L. Bearer. Nature and Nurture: The Complex Interplay of Genetic and Environmental Influences on Human Behavior and Development. Taylor & Francis Group, 2013.

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19

T, García Coll Cynthia, Bearer Elaine L, and Lerner Richard M, eds. Nature and nurture: The complex interplay of genetic and environmental influences on human behavior and development. Lawrence Erlbaum, 2004.

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20

(Editor), Cynthia Garcia Coll, and Elaine L. Bearer (Editor), eds. Nature and Nurture: The Complex Interplay of Genetic and Environmental Influences on Human Behavior and Development. Lawrence Erlbaum, 2003.

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21

Nature and nurture: The complex interplay of genetic and environmental influences on human behavior and development. Lawrence Erlbaum, 2003.

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22

Haiman, Christopher, and David J. Hunter. Genetic Epidemiology of Cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676827.003.0004.

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This chapter explores the genetic epidemiology of cancer: the identification and quantification of inherited genetic factors, and their potential interaction with the environment, in the etiology of cancer in human populations. It also describes the techniques used to identify genetic variants that contribute to cancer susceptibility. It describes the older research methods for identifying the chromosomal localization of high-risk predisposing genes, such as linkage analysis within pedigrees and allele-sharing methods, as it is important to understand the foundations of the field. It also revi

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23

(Editor), J. Ott, and D. Gordon (Editor), eds. Medical Statistics: Current Developments in Statistical Methodology for Genetic Architecture of Complex Diseases Meeting, Oberwolfach, February 2003 (Human Heredity). Not Avail, 2003.

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24

Hughes, James. Human augmentation and the age of the transhuman. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780199674923.003.0057.

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Human augmentation is discussed in this chapter in three axes: the technological means, the ability being augmented, and the social systems that will be affected. The technological augmentations considered range from exocortical information and communication systems, to pharmaceuticals, tissue and genetic engineering, and prosthetic limbs and organs, to eventually nanomedical robotics, brain–computer interfaces and cognitive prostheses. These technologies are mapped onto the capabilities which we are in the process of enabling and augmenting, which include extending longevity and physical, sen

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25

Bentham, James R. The genetics of congenital heart disease. Edited by José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, et al. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0022.

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Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in

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26

Brubaker, Rogers. The Return of Biology. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190465285.003.0005.

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This chapter analyzes the complex and ambivalent implications of the post-Human Genome Project “return of biology” for the theory and practice of race and ethnicity. Genetically informed accounts of difference risk reinforcing essentialist understandings of identity; yet they can also serve to undermine notions of racial or ethnic purity, highlighting instead the inextricable mixedness of all human populations and the genetic uniqueness of every individual. The chapter traces developments in biomedical research, forensics, genetic genealogy, and identity politics, and it concludes by outlining

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27

Slack, Jonathan. 2. Genes as DNA. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199676507.003.0002.

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After 1944, a remarkable set of discoveries established the overall shape of modern molecular biology and most famous of all was the discovery of the three dimensional structure of DNA: the famous double helix, which explained how the substance could act as the genetic material. ‘Genes as DNA’ describes the complex structure of genes and explains the terms ‘genome’ and ‘genomics’. In the 1980s and 1990s the complex mechanisms by which genes control embryonic development were discovered. The complete sequencing of a typical human genome was started in the late 1990s and achieved in 2003. It sho

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28

Sousek, Alexandra, and Mehdi Tafti. The genetics of sleep. Edited by Sudhansu Chokroverty, Luigi Ferini-Strambi, and Christopher Kennard. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199682003.003.0005.

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Although there is strong evidence for a genetic contribution to inter-individual variations in sleep, the underlying factors and their interaction remain largely elusive. Much effort has been expended in studying genetic variations contributing to circadian and sleep phenotypes, the individual pattern of the human sleep EEG, reactions to sleep loss, and the pathophysiology of sleep-related disorders. Certain sleep-related diseases may be caused by single genes, while the etiology of others seems to be variable and complex. This is especially the case when the immune system is involved. This ch

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29

Troisi, Alfonso. Detachment. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199393404.003.0003.

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Most of us find social encounters rewarding, especially when we encounter those with whom we are familiar and have built up a relationship. From an evolutionary point of view, this is not surprising; human beings are fundamentally social organisms, and human development and functioning occur within a social context. The origin of individual differences in the capacity to experience social reward is likely to involve a complex interplay of genetic and environmental variables, including genetic variation, early experience and current situational factors. A few individuals seem to lie at the lowe

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30

Lucchesi, John C. Epigenetics, Nuclear Organization & Gene Function. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198831204.001.0001.

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Epigenetics is the study of heritable changes in gene function that do not involve changes in the DNA sequence. Epigenetic changes, consisting principally of DNA methylation, histone modifications and non-coding RNAs, maintain and modulate the initial impact of regulatory factors that recognize and associate with particular genomic sequences. This book’s primary goal is to establish a framework that can be used to understand the basis of epigenetic regulation and to appreciate both its derivation from genetics and its interdependence with genetic mechanisms. A further aim is to highlight the r

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31

Hanson, Clare. Genetics and the Literary Imagination. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780198813286.001.0001.

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This book explores the impact of genetic and postgenomic science on British literary fiction over the last four decades, focusing on the challenge posed to novelists by gene-centric neo-Darwinism and examining the recent rapprochement between postgenomic perspectives and literary understandings of human nature. It assesses the rise to cultural prominence of neo-Darwinism in the form of sociobiology and evolutionary psychology, thought styles which were predicated on scientific reductionism and genetic determinism. It explores the ways in which the fiction of Doris Lessing, A.S. Byatt, and Ian

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32

Brennand, Kristen. Application of Stem Cells to Understanding Psychiatric Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0005.

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While much has been learned through clinical post-mortem and neuroimaging studies of patients and animal models of autism spectrum disorder (ASD), bipolar disorder (BD) and schizophrenia (SZ), these classical approaches have yet to fully elucidate the interaction of complex genetic risk factors on disease predisposition. The derivation of human induced pluripotent stem cells (hiPSCs) from patients with psychiatric disorders permits the study of the full complement of risk variants (known and unknown) that underlie disease predisposition, precisely in the cell types relevant to disease. The fol

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33

De Rubeis, Silvia, Kathryn Roeder, and Bernie Devlin. Neurodevelopmental Mechanisms of Pediatric Psychiatric Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0062.

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The development of the human brain is a complex process that begins during the first weeks of gestation and extends at least through adolescence and early adulthood. This chapter will review the perturbations of the developmental trajectories during prenatal and early postnatal life that can lead to psychiatric disorders of childhood onset. We will provide a general view of the epochs and trajectories of brain development, from embryonic neurulation to postnatal development, with an emphasis on the development of the neocortex. Within each developmental window, we will consider some salient ce

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34

van Wijk, Bram, Phil Barnett, and Maurice J. B. van den Hoff. The developmental origin of myocardium at the venous pole of the heart. Edited by José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, et al. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0008.

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The focus of this chapter is an evaluation of the developmental origin of the myocardial component of the venous pole. The venous pole has a complex morphological architecture, reflecting its embryological and evolutionary development from several component parts. We describe the developmental changes observed in the architecture of the inflow of the heart and the large vessels that drain into the venous pole. As the formation of the proepicardium and the epicardial-derived cells are intimately connected to the forming inflow, this topic will also be covered. We compare the development of the

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35

Paris, Joel. Thinking Interactively. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190601010.003.0004.

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The human mind favors linear thinking, with single causes leading to single effects. Thinking interactively is much more difficult. Understanding mental disorders as due to chemical imbalances or abnormal neural connections is tempting. However, it is wrong to view the neural level as more “real” than measures of the mind. This kind of thinking pays lip service to psychosocial factors but loses sight of the important role that life events play in the etiology of mental disorders. In the past, psychotherapists were just as blindly linear in their thinking. They made broad generalizations, overs

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36

Patel, Ajita K., and Richard H. Meadow. South Asian contributions to animal domestication and pastoralism. Edited by Umberto Albarella, Mauro Rizzetto, Hannah Russ, Kim Vickers, and Sarah Viner-Daniels. Oxford University Press, 2017. http://dx.doi.org/10.1093/oxfordhb/9780199686476.013.19.

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In South Asia, the earliest development of plant and animal husbandry and the first manifestation of urbanism occurred in the northwestern part of the subcontinent from the eighth through the third millennium cal bc. Archaeological excavations and zooarchaeological analyses have provided evidence for change through time in animal–human relations in that region, where wild forms of goat, sheep, zebu cattle, and water buffalo are or were native. Reviews of the faunal evidence for these animals show that the processes of domestication and development of pastoralism varied between taxa and in each

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37

Walsh, Bruce, and Michael Lynch. Evolution and Selection of Quantitative Traits. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.001.0001.

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Quantitative traits—be they morphological or physiological characters, aspects of behavior, or genome-level features such as the amount of RNA or protein expression for a specific gene—usually show considerable variation within and among populations. Quantitative genetics, also referred to as the genetics of complex traits, is the study of such characters and is based on mathematical models of evolution in which many genes influence the trait and in which non-genetic factors may also be important. Evolution and Selection of Quantitative Traits presents a holistic treatment of the subject, show

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38

Barsoum, Rashad S. Schistosomiasis. Edited by Neil Sheerin. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0181_update_001.

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AbstractSchistosomes are blood flukes that parasitize humans, apes, cattle, and other animals. In these definitive hosts they are bisexual, and lay eggs which are shed to fresh water where they complete an asexual cycle in different snails, ending in the release of cercariae which infect the definitive hosts to complete the life cycle.Seven of over 100 species of schistosomes are human pathogens, causing disease in different organs depending on the parasite species. Racial and genetic factors are involved in susceptibility, severity, and sequelae of infection.Morbidity is induced by the host’s

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39

Maltzman, Sara. A Multidisciplinary, Biopsychosocial Approach to Treatment. Edited by Sara Maltzman. Oxford University Press, 2016. http://dx.doi.org/10.1093/oxfordhb/9780199739134.013.43.

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This concluding chapter of theOxford Handbook of Treatment Processes and Outcomes in Psychologydescribes the importance of breaking down research and practice silos in favor of a multidisciplinary and biopsychosocial approach regarding human physical and mental health. The chapter summarizes why we can have more confidence in treatments and interventions that “fit” within the context of converging lines of evidence across these multilevel systems. What multidisciplinary research tells us is that treatmentdoesmatter, as evidenced by multiple lines of research in animal models, particularly in f

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40

Doherty, Michael, Johannes Bijlsma, Nigel Arden, David J. Hunter, and Nicola Dalbeth. Introduction: what is osteoarthritis? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0001.

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This brief introductory chapter summarizes some of the key clinical and structural features of osteoarthritis (OA) and highlights some general observations and concepts concerning the nature of OA. General observations include the preservation of OA throughout human evolution; the occurrence of OA in many other animals; the dynamic, metabolically active nature of OA pathophysiology; the fact that most OA never associates with symptoms or functional impairment; and the good outcome in many cases of symptomatic OA. Such observations support the concept of OA as the inherent repair process of syn

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41

Naicker, Saraladevi, and Graham Paget. HIV and renal disease. Edited by Vivekanand Jha. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0187_update_001.

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The human immunodeficiency virus (HIV) infection epidemic has particularly affected the poorest regions of the world. HIV can directly or indirectly affect different aspects of renal function, and results in a variable expression of kidney disease.Acute kidney injury (AKI) occurs in approximately 20% of hospitalized patients. The prevalence of chronic kidney disease (CKD) amongst HIV-infected patients is reported at 3.5–38% in different regions of the world. The complex interplay between the pheno- and/or genotypic variants of the virus, the genetic make-up of the host, and environmental facto

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42

Lai, Kar Neng, and Sydney C. W. Tang. Immunoglobulin A nephropathy. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0066_update_001.

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Immunoglobulin A (IgA) nephropathy characteristically causes haematuria and may present as a nephritic illness in older children and young adults. However, it may occur at any age and is commonly asymptomatic, associated first with haematuria alone, later progressing in some patients to hypertension, proteinuria, and progressive loss of glomerular filtration. While this evolution is characteristically slow, over decades, in some it is rapid, leading to early end-stage renal failure. It is common for the disease to present late, as advanced renal disease, or malignant hypertension. It may prese

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43

Klitzman, Robert. Designing Babies. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190054472.001.0001.

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Since the first “test tube baby” was born over 40 years ago, in vitro fertilization and other assisted reproductive technologies (ARTs) have advanced in extraordinary ways, producing millions of babies. About 20% of Americans use infertility services, and that number is growing. ARTs enable gay and lesbian couples, single parents, and now others to have offspring. Prospective parents can also use preimplantation genetic diagnosis to avoid passing on certain mutations to their children and to avoid abortions of fetuses with these mutations. Other future parents routinely choose the sex of their

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44

Pool, Robert. Beyond Engineering. Oxford University Press, 1997. http://dx.doi.org/10.1093/oso/9780195107722.001.0001.

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We have long recognized technology as a driving force behind much historical and cultural change. The invention of the printing press initiated the Reformation. The development of the compass ushered in the Age of Exploration and the discovery of the New World. The cotton gin created the conditions that led to the Civil War. Now, in Beyond Engineering, science writer Robert Pool turns the question around to examine how society shapes technology. Drawing on such disparate fields as history, economics, risk analysis, management science, sociology, and psychology, Pool illuminates the complex, of

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