Genetics of Endocrine Diseases and Syndromes

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Igaz, Peter (Επιμελητής έκδοσης, http://id.loc.gov/vocabulary/relators/edt), Patócs, Attila (Επιμελητής έκδοσης, http://id.loc.gov/vocabulary/relators/edt)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2019.
• Έκδοση: 1st ed. 2019.
• Σειρά: Experientia Supplementum, 111
• Θέματα: Molecular biology.; Human genetics.; Molecular Medicine.; Human Genetics.

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a ge...

Πίνακας περιεχομένων:

• Part 1: Basics of Genetics
• Chapter 1. Basic concepts ofgenetics
• Chapter 2. Brief description of inheritance patterns
• Chapter 3. Family screening and genetic counseling
• Chapter 4. Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next generation sequencing etc.)
• Part 2: Endocrine diseases inherited as monogenic traits: Alterations of hormones and hormone receptors
• Chapter 5. Syndromes of resistance to thyroid hormone action
• Chapter 6. Glucocorticoid resistance.-Part 3: Endocrine diseases inherited as monogenic traits: Hereditary diseases predisposing to endocrine tumors
• Chapter 7. Overview of genetically determined diseases/multiple endocrine neoplasia syndromes predisposing to endocrine tumors
• Chapter 8. Hereditary diseases predisposing to pheochromocytoma (VHL, NF-1, paraganglioma syndromes and novel genes)
• Chapter 9. Diseases predisposing to adrenocortical malignancy (Li-Fraumeni syndrome, Beckwith-Wiedemann-syndrome, Carney-complex)
• Chapter 10. Genetics of pituitary tumors
• Chapter 11. Timeline of advances in genetics of primary aldosteronism
• Chapter 12. Congenital adrenal hyperplasia
• Part 4: Endocrine diseases inherited as monogenic traits: Monogenic diseases predisposing to hormone deficiency, infertility and diabetes mellitus
• Chapter 13. Pituitary transcription factor mutations leading to hypopituitarism
• Chapter 14. Hereditary neurohypophyseal diabetes insipidus
• Chapter 15. Nephrogenic diabetes insipidus
• Chapter 16. Monogenic forms of male infertility (including androgen resistance)
• Chapter 17. Genetic causes of female infertility
• Chapter 18. Monogenicforms of diabetes mellitus
• Part 5: Example of a multifactorial disease and chromosomal alterations in endocrine diseases
• Chapter 19. Genetics of obesity
• Chapter 20. Chromosomal aberrations with endocrine relevance (Turner-syndrome, Klinefelter-syndrome, Prader-Willi syndrome).