
Endocrine Tumor Syndromes and Their Genetics
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Content
- Cover
- Front Matter
- Contents
- Foreword
- Preface
- References
- Multiple Endocrine Neoplasia Type 1
- Abstract
- Clinical Characteristics of MEN1
- Genetics of MEN1
- Mouse Models of MEN1
- Menin-Null Cell Lines
- Menin Expression and Function
- Menin Interaction with JUND
- Menin Interaction with the MLL Complex
- 3D Crystal Structure of Menin
- Conclusions
- Acknowledgments
- References
- Multiple Endocrine Neoplasia Type 2
- Abstract
- Overview
- History
- Structure and Function of RET
- RET Gene and Practice Recommendations
- Summary of Current Optimal Therapeutic Practices for MTC
- Treatment of MTC with Tyrosine Kinase Inhibitors
- Pheochromocytomas in MEN2 Syndromes
- Evaluation and Treatment of Pheochromocytoma
- Screening for Pheochromocytoma
- Primary Hyperparathyroidism
- Conclusion
- References
- von Hippel-Lindau Syndrome
- Abstract
- Historical Perspectives
- Molecular Genetics
- VHL Protein
- Clinical Features
- Retinal and CNS Hemangioblastoma
- Clear Cell Renal Cell Carcinoma and Renal Cysts
- Pheochromocytoma/Paraganglioma
- Pancreatic Neuroendocrine Tumor and Pancreatic Cyst
- Endolymphatic SAC Tumors
- Papillary Cystadenoma
- Other Tumors
- Screening/Prognosis
- Future Directions
- Conclusion
- References
- Carney Complex
- Abstract
- Diagnosis and Clinical Manifestations
- Molecular Genetics
- Pathogenesis
- Conclusion
- References
- Multiple Endocrine Neoplasia Type 4
- Abstract
- Phenotypic Features of Patients Carrying CDKN1B Germline Mutations
- The CDKN1B Tumor Susceptibility Gene
- CDKN1B Germline Mutations in Patients with a MEN1-Like Phenotype (MEN4)
- CDKN1B Germline Mutations in Endocrine Disease
- Function of the p27 Protein
- p27 and Tumorigenesis
- Functional Effects of p27 Mutations
- Conclusions
- Acknowledgments
- References
- Novel Hereditary Forms ofPheochromocytomas and Paragangliomas
- Abstract
- SDH -Related Mutations and Familial Paraganglioma Syndromes
- TMEM127
- MAX
- Overlapping Signals in Pheochromocytoma/Paraganglioma
- Sporadic Pheochromocytoma/Paraganglioma
- Challenges and Future Perspectives
- Acknowledgments
- References
- Note Added in Proof
- Carney Triad
- Abstract
- Definition
- Background
- Historical
- Cases 1-4
- Cases 5-7
- The Next Case Reported in 1981
- Nomenclature of the Gastric and Pulmonary Tumors
- Gastric Stromal Sarcoma
- Pulmonary Chondroma
- Extra-Adrenal Paraganglioma
- Follow-Up
- Treatment of the Tumors
- Unusual Features of the Carney Triad
- Differential Diagnosis
- Genetics
- References
- Genetics of Pituitary Adenomas
- Abstract
- Familial Isolated Pituitary Adenomas
- AIP Function, Mutations and Animal Models
- GNAS Mutations and McCune-Albright Syndrome
- Somatic Alterations in Pituitary Adenomas
- MicroRNAs in Pituitary Adenomas
- Conclusion
- References
- Clinical Behavior and Genetics of Nonsyndromic, Familial Nonmedullary Thyroid Cancer
- Abstract
- Clinical Behavior and Definition of FNMTC
- Genetics
- Conclusion
- References
- Genetic Defects Associated with Familialand Sporadic Hyperparathyroidism
- Abstract
- Primary Hyperparathyroidism
- Multiple Endocrine Neoplasia Type 1
- Menin
- Multiple Endocrine Neoplasia Type 2A
- Multiple Endocrine Neoplasia Type 4
- Hyperparathyroidism-Jaw Tumor Syndrome
- Parafibromin/CDC73
- Parafibromin/CDC73 in Parathyroid Carcinoma
- Familial Hypocalciuric Hypercalcemia
- Neonatal Severe Hyperparathyroidism
- Calcium-Sensing Receptor
- Familial Isolated Hyperparathyroidism
- Cyclin D1 Oncogene and Parathyroid Neoplasia
- Other Aspects of Parathyroid Tumorigenesis
- Conclusions
- References
- Endocrine Tumors Associated withNeurofibromatosis Type 1, Peutz-JeghersSyndrome and Other Familial NeoplasiaSyndromes
- Abstract
- Neurofibromatosis Type 1
- Peutz-Jeghers Syndrome
- Beckwith-Wiedemann Syndrome
- Tuberous Sclerosis Complex
- Li-Fraumeni Syndrome
- PTEN Hamartoma Tumor Syndrome
- APC -Associated Polyposis
- Conclusion
- Acknowledgement
- References
- Author Index
- Subject Index
- Cover
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The file format PDF always displays a book page identically on any hardware. This makes PDF suitable for complex layouts such as those used in textbooks and reference books (images, tables, columns, footnotes). Unfortunately, on the small screens of e-readers or smartphones, PDFs are rather annoying, requiring too much scrolling.
This eBook uses Adobe-DRM, a „hard” copy protection. If the necessary requirements are not met, unfortunately you will not be able to open the eBook. You will therefore need to prepare your reading hardware before downloading.
Please note: We strongly recommend that you authorise using your personal Adobe ID after installation of any reading software.
For more information, see our eBook Help page.