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Human Ring Chromosomes A Practical Guide for Clinicians and Families /

This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leadin...

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Korporativní autor: SpringerLink (Online service)
Další autoři: Li, Peining (Editor), Liehr, Thomas (Editor)
Médium: Elektronický zdroj E-kniha
Jazyk:angličtina
Vydáno: Cham : Springer International Publishing : Imprint: Springer, 2024.
Vydání:1st ed. 2024.
Témata:
Medical genetics.
Molecular genetics.
Cancer.
Medical Genetics.
Molecular Genetics.
Clinical Genetics.
Cancer Biology.
On-line přístup:https://doi.org/10.1007/978-3-031-47530-6
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Obsah:
  • Part I Introduction
  • 1. Historical Perspective of Human Ring Chromosomes
  • 2. Diagnostic Methods for Ring Chromosomes
  • 3. Genetic Databases and Online Ring Chromosome Registry
  • 4. Advocate Activities and Patient-centered Approaches
  • Part II Constitutional Ring Chromosomes
  • 5. Ring Chromosome 1
  • 6. Ring Chromosome 2
  • 7. Ring Chromosome 3
  • 8. Ring Chromosome 4
  • 9. Ring Chromosome 5
  • 10. Ring Chromosome 6
  • 11. Ring Chromosome 7
  • 12. Ring Chromosome 8
  • 13. Ring Chromosome 9
  • 14. Ring Chromosome 10
  • 15. Ring Chromosome 11
  • 16. Ring Chromosome 12
  • 17. Ring Chromosome 13
  • 18. Ring Chromosome 14
  • 19. Ring Chromosome 15
  • 20
  • Ring Chromosome 16
  • 21. Ring Chromosome 17
  • 22. Ring Chromosome 18
  • 23. Ring Chromosome 19
  • 24. Ring Chromosome 20
  • 25. Ring Chromosome 21
  • 26. Ring Chromosome 22
  • 27. Ring Chromosome X
  • 28. Ring Chromosome Y
  • 29. Supernumerary Small Ring Chromosomes
  • 30. Ring Chromosomes from Patients’ Perspective
  • Part III Somatic Ring Chromosomes
  • 31. Acquired Ring Chromosomes in Tumors of Hematopoietic and Lymphoid Tissues
  • 32. Acquired Ring Chromosomes in Solid Tumors
  • Part IV Ring Chromosome Research
  • 33. Molecular Mechanisms of Ring Chromosome Formation and Instability
  • 34. iPSC Models of Ring Chromosomes, Genome Editing, and Chromosome Therapy
  • 35. Genetic Mosaic Analysis in Model Organisms.

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