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1

Wyandt, Herman E., and Vijay S. Tonk. Human Chromosome Variation: Heteromorphism and Polymorphism. Springer Netherlands, 2012. http://dx.doi.org/10.1007/978-94-007-0896-9.

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2

Wyandt, Herman E. Human Chromosome Variation: Heteromorphism and Polymorphism. Springer Science+Business Media B.V., 2012.

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3

Wyandt, Herman E., Golder N. Wilson, and Vijay S. Tonk. Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-3035-2.

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4

Max, King. Species evolution: The role of chromosome change. Cambridge University Press, 1993.

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5

Khazanehdari, Kamal Aldin. Meiotic chromosome behaviour and somatic chromosome variation in the leek (Allium porrum L.). University of Birmingham, 1995.

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6

Jaarola, Maarit. Colonization history of Fennoscandian field voles (Microtus agrestis): Geographic structure of mitochondrial DNA and Y chromosome variation. Uppsala University, 1995.

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7

Khattak, Mohammad Naeem. Chromosomal DNA variations in infections. University of Manchester, 1993.

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8

1956-, Kwok Pui-Yan, ed. Single nucleotide polymorphisms: Methods and protocols. Humana Press, 2003.

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9

Lloyd, Davina. The induction, in vitro, of chromosomal variation in Rosa. NELP, 1986.

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10

Bear, Greg. Darwin's children. Ballantine, 2003.

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11

Bear, Greg. Darwin's Children. Random House Publishing Group, 2003.

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12

Wynsberghe, Nicole Raymonde Van. Chromosomal variation and species boundaries among populations of collared lemming Dicrostonyx (Rodentia: Arvicolidae) in the western Hudson Bay region. National Library of Canada = Bibliothèque nationale du Canada, 1993.

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13

Borowik, Oksana Ann. Chromosomal variation within and among populations of the collared lemming Dicrostonyx (Rodentia: arvicolinae) in the eastern and high Arctic of Canada. National Library of Canada = Bibliothèque nationale du Canada, 1992.

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14

T, Strachan, and Dover G. A, eds. Human genome evolution. BIOS, 1996.

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15

Borgaonkar, Digamber S. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies. Wiley & Sons, Incorporated, John, 1985.

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16

Wilson, Golder N., Herman E. Wyandt, and Vijay S. Tonk. Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer, 2017.

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17

Wilson, Golder N., Herman E. Wyandt, and Vijay S. Tonk. Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer, 2018.

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18

McKinlay Gardner, R. J., and David J. Amor. Normal Chromosomal Variation. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0017.

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Knowing what is normal and what is not is becoming a particular challenge in this era of molecular karyotyping. This chapter reviews the normal chromosome variation from classical times, now very well understood. This is followed by a discussion of the complexity and uncertainty that the molecular approach has, in this century, challenged researchers with. In particular, the chapter discusses the concept of the copy number variant (CNV) and how the harmlessness, or not, of a CNV may be assessed. Mention is made of CNVs potentially acting as “second hits,” such that, while nonpathogenic in one
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19

Benign And Pathological Chromosomal Imbalances Microscopic And Submicroscopic Copy Number Variations Cnvs In Genetics And Counseling. Academic Press, 2013.

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20

Neurogenetic developmental disorders: Variation of manifestation in childhood. MIT Press, 2007.

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21

Durfy, Sharon Joan. Nucleotide sequence variation , homogenization, and evolution of X chromosome alpha satellite DNA. 1990.

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22

Kwok, Pui-Yan. Single Nucleotide Polymorphisms: Methods and Protocols (Methods in Molecular Biology). Humana Press, 2002.

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23

Schierup, Mikkel, Carsten Wiuf, and Jotun Hein. Gene Genealogies, Variation and Evolution: A Primer in Coalescent Theory. Oxford University Press, 2005.

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24

Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0321.

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Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected, but heterozygous carriers of the abnormal gene are also at significantly increased risk of end-stage renal failure in their lifetime. Those affected by the autosomal recessive variant are phenotypically very similar. It is caused by mutations i
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25

BORGAONKAR, DS. Borgaonkar: Chromosomal Variation in Man 5ed. John Wiley & Sons Inc, 1989.

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26

McIntosh, RA, CR Wellings, and RF Park. Wheat Rusts. CSIRO Publishing, 1995. http://dx.doi.org/10.1071/9780643101463.

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Although stem rust has been controlled by means of resistant cultivars, leaf and stripe rust continue as problems for many growing areas of the world. Wheat Rusts: An Atlas of Resistance Genes has been prepared by specialists from one of the leading international laboratories, and illustrates with colour photographs typical resistance phenotypes associated with most known genes for resistance to the three rust diseases of wheat. Relevant details for each gene include chromosome location, aspects of genetics and pathogen variation, the effects of environment on expression, origin, availability
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27

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 5th ed. Liss, 1989.

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28

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 6th ed. Wiley-Liss, 1991.

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29

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 7th ed. Wiley-Liss, 1994.

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30

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 8th ed. Wiley-Liss, 1997.

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31

Liehr, Thomas. Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations in Genetics and Counseling. Elsevier Science & Technology Books, 2013.

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32

Samango-Sprouse, Carole A., and Andrea L. Gropman. X and y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance. Morgan & Claypool Life Science Publishers, 2016.

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33

Samango-Sprouse, Carole A., and Andrea L. Gropman. X and y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance. Morgan & Claypool Life Science Publishers, 2016.

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34

Samango-Sprouse, Carole A., and Andrea L. Gropman. X and y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance. Morgan & Claypool Life Science Publishers, 2016.

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35

Vermeulen, Roel, Douglas A. Bell, Dean P. Jones, et al. Application of Biomarkers in Cancer Epidemiology. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0006.

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Advancements in OMICs are now enabling investigators to explore comprehensively the biological consequences of exogenous and endogenous exposures by detecting molecular signatures of exposure, early signs of adverse biological effects, preclinical disease, and molecularly defined cancer subtypes. These new technologies have proven invaluable for assembling a comprehensive portrait of human exposure, health, and disease. This includes hypothesis-driven biomarkers, as well as platforms that can agnostically analyze entire biologic processes and “compartments,” including the measurement of small
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36

Komar, Anton A. Single Nucleotide Polymorphisms: Methods and Protocols. Humana Press, 2012.

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37

Bear, Greg, and Scott Brick. Darwin's Children. Books On Tape, Inc, 2003.

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38

Bear, Greg. Los Ninos de Darwin. Ediciones B, 2005.

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39

Bear, Greg. Die Darwin-Kinder. Heyne Taschenbuch, 2006.

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40

News, PM Medical Health. 21st Century Complete Guide to Human Genome Research: Genetic Mapping, DNA Sequencing, Chromosomes, Bioethics, Tools and Techniques, Gene Variations and Disease. Progressive Management, 2002.

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41

Cutter, Asher D. A Primer of Molecular Population Genetics. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198838944.001.0001.

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The study of molecular population genetics seeks to understand the micro-evolutionary principles underlying DNA sequence variation and change. It addresses such questions as: Why do individuals differ as much as they do in their DNA sequences? What are the genomic signatures of adaptations? How often does natural selection dictate changes to DNA and accumulate as differences between species? How does the ebb and flow in the abundance of individuals over time get marked onto chromosomes to record genetic history? The concepts used to answer such questions also apply to analysis of personal geno
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42

Pieper, Lindsay Parks. “One of the Most Horrid Misuses of a Scientific Method”. University of Illinois Press, 2017. http://dx.doi.org/10.5406/illinois/9780252040221.003.0007.

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Although the International Olympic Committee (IOC) sought to differentiate women from men, the methods employed repeatedly illustrated the difficulty in determining the exact composition of womanhood. This chapter argues that rather than showing a clear-cut biological divide, the policy highlighted a range of chromosomal varieties and DNA diversity. The IOC disregarded these well-documented variations and continued testing. Officials never discovered a man posing as a woman; however, several female athletes with biological differences were barred from competition. Eventually, protests by medic
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43

Strachan, Tom, Michael S. Jackson, and G. Dover. HUMAN GENOME EVOLUTION (Human Molecular Genetics). Routledge, 2004.

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