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Książki na temat „Chromosomal abnormalities”

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Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 9 marca 2023

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1

Pai, G. Shashidhar. Handbook of chromosomal syndromes. New York: J. Wiley, 2003.

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2

G, Obe, i Natarajan A. T, red. Chromosomal alterations: Origin and significance. Berlin: Springer-Verlag, 1994.

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3

H, Nicolaides K., red. Ultrasound markers for fetal chromosomal defects. New York: Parthenon Pub. Group, 1996.

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4

G, Obe, i Natarajan A. T, red. Chromosomal aberrations: Basic and applied aspects. Berlin: Springer-Verlag, 1990.

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5

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 7. New York: Wiley-Liss, 1994.

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6

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 6. New York: Wiley-Liss, 1991.

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7

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 8. New York: Wiley-Liss, 1997.

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8

Chromosomal variation in man: A catalog of chromosomal variants and anomalies. Wyd. 5. New York: Liss, 1989.

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9

Tice, Raymond R. User's guide: Chromosomal aberration data analysis and interpretation system. Las Vegas, NV: U.S. Environmental Protection Agency, Environmental Monitoring Systems Laboratory, 1991.

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10

R, Kirsch Ilan, red. The Causes and consequences of chromosomal aberrations. Boca Raton: CRC Press, 1993.

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11

G, Obe, i Vijayalaxmi Dr, red. Chromosomal alterations: Methods, results, and importance in human health. Berlin: Springer, 2007.

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12

Heppell-Parton, Amanda C. A molecular analysis of lymphocyte clonal chromosomal abnormalities observed in ataxia telangiectasia patients. Birmingham: University of Birmingham, 1988.

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13

Agency, International Atomic Energy, red. Biological dosimetry: Chromosomal aberration analysis for dose assessment. Vienna: International Atomic Energy Agency, 1986.

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14

Al-Romaih, Khaldoun Ibraheem. Chromosomal instability (CIN) in osteosarcoma and its association with centrosome abnormalities and/or p53 mutation. Ottawa: National Library of Canada, 2002.

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15

Motoi, Ishidate, red. Data book of chromosomal aberration test in vitro. Amsterdam: Elsevier, 1988.

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16

Meeting, Italian Society for Inborn Error Diseases. Progress in mitochondrial, mendelian, and chromosomal disorders: Proceedings of the 5th Meeting of the Italian Society for Inborn Error Diseases in conjunction with the Italian Society of Medical Genetic and Italian Society of Medical Cytogenetic, Acireale, Catania, September 1984. Milano: Edi-Ermes, 1985.

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17

Jiahui, Xia, i Li Luyun, red. Shi jie shou bao Zhongguo ren ran se ti yi chang he xing tu pu: Chromosomal atlas of the first reported abnormal karyotypes in the world among Chinese. Zhengzhou Shi: Henan ke xue ji shu chu ban she, 1993.

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18

N, Weingarten Cynthia, i Jefferson Sally E, red. Sex chromosomes: Genetics, abnormalities, and disorders. Hauppauge, NY: Nova Science Publishers, 2009.

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19

B, Berch Daniel, Bender Bruce G i American Association for the Advancement of Science. National Meeting, red. Sex chromosome abnormalities and human behavior: Psychological studies. Boulder, Colo: Published by Westview Press for the American Association for the Advancement of Science, 1990.

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20

R, Sutherland Grant, red. Chromosome abnormalities and genetic counseling. New York: Oxford University Press, 1989.

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21

R, Sutherland Grant, red. Chromosome abnormalities and genetic counseling. Wyd. 3. New York: Oxford University Press, 2004.

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22

R, Sutherland Grant, red. Chromosome abnormalities and genetic counseling. Wyd. 2. New York: Oxford University Press, 1996.

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23

R, Sutherland Grant, i Shaffer Lisa G, red. Chromosome abnormalities and genetic counseling. Wyd. 4. Oxford: Oxford University Press, 2011.

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24

A, Evans Jane, Hamerton John L, Robinson Arthur 1914- i March of Dimes Birth Defects Foundation., red. Children and young adults with sex chromosome aneuploidy: Follow-up, clinical, and molecular studies : proceedings of the 5th International Workshop on Sex Chromosome Anomalies held at Minaki, Ontario, Canada, June 7-10, 1989. New York: Wiley-Liss, 1991.

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25

A, Sandberg Avery, red. The Y chromosome. New York: A.R. Liss, 1985.

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26

Aşkın Çelik, Tülay, i Subrata Dey, red. Chromosomal Abnormalities. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.77904.

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27

Chromosomal Abnormalities [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95723.

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28

Young, Bill. Spermatozoa: Biology, Function and Chromosomal Abnormalities. States Academic Press, 2022.

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29

McKinlay Gardner, R. J., i David J. Amor. Reproductive Failure. Redaktorzy R. J. McKinlay Gardner i David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0019.

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Streszczenie:
Human conception and pregnancy is both a vulnerable and a robust process. It is vulnerable in that a large proportion of all conceptions are chromosomally abnormal, with the great majority of such pregnancies aborting. It is robust in that more than 99% of the time, a term pregnancy results in a chromosomally normal baby; unbalanced chromosomal abnormalities are seen in less than 1% of newborns. This chapter considers the somewhat surprising vulnerability of the human species to chromosome abnormality, from prior to, at, and following conception. A remarkable fraction of pregnancy loss is due to chromosomal imbalance, and there is an associated maternal age effect. This chapter considers the chromosomal contribution to miscarriage, fetal death in utero, and perinatal death. Recurrent pregnancy loss may have a chromosomal basis, and male and female infertility may relate to abnormality of, in particular, the sex chromosomes. The genetics of hydatidiform mole is reviewed.
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30

Pai, G. Shashidhar, Raymond C. Jr Lewandowski i Digamber S. Borgaonkar. Handbook of Chromosomal Syndromes. Wiley-Liss, 2002.

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31

Obe, G., i A. T. Natarajan. Chromosomal Alterations: Origin and Significance. Springer-Verlag Telos, 1994.

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32

Larramendy, Marcelo L., i Sonia Soloneski, red. Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability. InTech, 2017. http://dx.doi.org/10.5772/65142.

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33

Spermatozoa: Biology, Motility and Function and Chromosomal Abnormalities. Nova Science Publishers, Incorporated, 2014.

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34

Gardner, R. J. McKinlay, i David J. Amor. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.001.0001.

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Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have had a child affected with a chromosome condition; or, there may have been a history elsewhere in the family. The presentation may have been due to infertility or reproductive loss. Questions may include the following: What is known about this condition? What caused this to happen? Is it likely to happen again? If so, is there a way to prevent it from happening again? The power of molecular approaches to chromosome analysis, coming to be routinely available in this second decade of the twenty-first century, has brought to our knowledge many new “chromosomal syndromes” to add alongside those long known from the days of classical cytogenetics. This new knowledge has increased our ability to answer the questions that families may have; but equally, it has raised challenges in interpretation, as molecular karyotyping has revealed more complexity in the way the human genome is constructed. This book distils the knowledge that has evolved in recent and olden times, and it presents the information in a way that will be helpful to the practitioner. In particular, the risks of recurrence, or of occurrence, of a particular chromosome disorder are clearly set forth. The application of chromosomal knowledge to reproductive conditions, both diagnostically and in management, is rehearsed.
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35

(Editor), G. Obe, i A. T. Natarajan (Editor), red. Chromosomal Aberrations. Springer-Verlag Berlin and Heidelberg GmbH & Co. K, 1990.

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36

Günter Obe Adayapalam T. Natarajan. Chromosomal Alterations: Origin and Significance. Springer, 2012.

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37

Natarajan, Adayapalam T., i Günter Obe. Chromosomal Alterations: Origin and Significance. Springer London, Limited, 2012.

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38

Natarajan, A. T., i Günter Obe. Chromosomal Aberrations: Basic and Applied Aspects. Springer London, Limited, 2012.

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39

Obe, Günter, i A. T. Natarajan. Chromosomal Aberrations: Basic and Applied Aspects. Springer, 2011.

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40

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

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41

McKinlay Gardner, R. J., i David J. Amor. The Origins and Consequences of Chromosome Pathology. Redaktorzy R. J. McKinlay Gardner i David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0003.

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To deal intelligently with common questions from “chromosomal families,” counselors need a broad knowledge of how gametes form, how chromosomes behave, and how the early conceptus grows. This chapter describes the ways in which chromosomes are transmitted, and the ways in which these processes can go wrong and lead to clinical abnormality. The distinction is made between “pure” aneuploidies, and abnormalities due to structural rearrangement. In particular, meiotic nondisjunction, with respect to the generation of pure aneuploidy, is discussed in considerable detail. The origins of chromosome mosaicism are reviewed. Mention is made of abnormalities due to epigenetic mechanisms.
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42

Rowley, Janet D., Michelle M. Le Beau i Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2015.

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43

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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44

Obe, Günter, i Vijayalaxmi. Chromosomal Alterations: Methods, Results and Importance in Human Health. Springer Berlin / Heidelberg, 2010.

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45

(Editor), Günter Obe, i Vijayalaxmi (Editor), red. Chromosomal Alterations: Methods, Results and Importance in Human Health. Springer, 2007.

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46

Chromosomal Alterations: Methods, Results and Importance in Human Health. Springer, 2007.

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47

Rowley, Janet D., Michelle M. Le Beau i Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2019.

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48

Rowley, Janet D., Michelle M. Le Beau i Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer London, Limited, 2015.

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49

McKinlay Gardner, R. J., i David J. Amor. Sex Chromosome Aneuploidy and Structural Rearrangement. Redaktorzy R. J. McKinlay Gardner i David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0015.

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There are four major sex chromosome abnormalities due to complete aneuploidy. Otherwise unassisted, infertility is practically inevitable in XXY Klinefelter syndrome and 45,X Turner syndrome. The other two conditions, XXX and XYY, apparently have little effect on fertility; furthermore, they are not discernibly associated with any increased risk for chromosomally abnormal offspring. This chapter first discusses these classic pure sex chromosomal aneuploidies. Then, deletion/duplication states of the X and Y chromosomes are reviewed, whether large and known since classical cytogenetics, or those only having come to light due to the power of twenty-first century molecular karyotyping. Recurrence risks are considered both for those who (if fertile, naturally or via in vitro fertilization) might themselves have such an abnormality, and for normal parents having had an affected child.
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50

Zneimer, Susan Mahler. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result. Wiley & Sons, Incorporated, John, 2014.

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